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Office of Rare Diseases

Scientific Workshops and Symposia Supported by the Office of Rare Diseases
November 1997


Executive Summary

Introduction

Background

Accomplishments

Planned Activities

Conclusion

 
Harold Varmus, M.D.
Director, NIH

Scientific Workshops and Symposia
Supported by the Office of Rare Diseases


EXECUTIVE SUMMARY


In Senate Report No. 104-368, the Committee on Appropriations requested that the National Institutes of Health (NIH) support and monitor scientific workshops and symposia supported by the Office of Rare Diseases (ORD) and submit a report that indicates whether this is an effective mechanism to stimulate research on rare diseases and conditions.

The ORD supports scientific workshops and symposia in their effort to identify research opportunities and to stimulate research on rare diseases and conditions. Primary consideration for support is given to those scientific workshops and symposia where diseases or groups of diseases for which current research activity is lacking or lagging or when there is a likelihood that the outcome may stimulate research. Rare diseases often are viewed as models for more common diseases. For many disorders, the workshops offer both basic and applied research investigators the opportunity to determine whether clinical care is available, the current state of research, or direction for future research. Voluntary patient support groups, other Federal agencies interested in research, and the pharmaceutical, biotechnology, and medical device industries are strongly encouraged to participate in the workshops.

The ORD has cosponsored with 17 NIH research Institutes and Centers (ICs) 69 workshops and symposia related to rare diseases. In fiscal year 1995, the ORD cosponsored 15 workshops and symposia; in fiscal year 1996, 30; and in fiscal year 1997, 24. Frequently, ICs that are cosponsoring workshops provide additional financial support as a method to emphasize trans-NIH partnerships.

NIH research ICs are asked to solicit cosponsors from other ICs for workshops in areas of mutual research concern. The intent is that if ICs can coordinate as cosponsors of workshops and symposia, they will also coordinate the planning and support of research. In many instances, four or five cosponsors planned and developed the agenda and participant list for the meeting.

The ORD also participates during the planning stages for these workshops. Prior to the meeting, the agenda and background material for the workshop are provided to the ORD so that the information may be made available to the public upon request.

After the workshop is held, the ICs provide to the ORD a summary of the resulting outcomes and initiatives that were planned during the workshop. The ORD used these summaries to help it determine whether sponsoring workshops is an effective mechanism to stimulate research on rare diseases. Some of the outcomes of the workshops are listed below:

  • Establish research priorities,
  • Develop program announcements (PAs) to solicit research grant applications,
  • Establish collaborative research arrangements,
  • Establish criteria for diagnosing and monitoring rare diseases,
  • Develop animal models for specific or related disorders,
  • Support patient and tissue registries,
  • Develop research protocols,
  • Initiate clinical trials,
  • Develop plans to disseminate information about specific rare disorders, and
  • Inform targeted professional and voluntary organizations of outcomes of the workshop.
The ORD will develop in 1998 a mechanism to monitor research activity for those diseases and conditions that have been the subject of the scientific workshops and symposia.

The workshops that are held to stimulate research on rare disorders do affect patient voluntary support groups. The following paragraph has been extracted from a letter one voluntary patient support group recently sent to the ORD:

"My thanks ... for making one of our dreams come true ... Our Scientific Advisory Board met on Saturday following the workshop and gave the event their "two thumbs up" award. The ... Board has decided to develop a plan for our future research endeavors which may well include workshops directed toward specific issues, i.e. sweat glands, tooth development or hair follicles. Our thinking is that small workshops on targeted topics could not only impact current understanding of specific topics related to [our disorder] but could act as a springboard towards future research."
Summaries of sponsored workshops are available on the ORD's World Wide Web (Web) home page and web site. (URL - http://rarediseases.info.nih.gov/ord). This report will also be made available on the web Site.

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INTRODUCTION

In the report on the fiscal year 1997 budget for the Department of Health and Human Services, the Senate Committee on Appropriations stated:

"The Committee is pleased with the breadth and scope of scientific workshops and symposia supported by the Office to stimulate rare disease research by identifying research opportunities across a broad spectrum of rare diseases and conditions. The Committee recommends the Office monitor the impact of these meetings and provide a report on the outcomes before the end of fiscal year 1997." (Senate Report 104-368, page 117)
In response to the Committee's request, NIH, of the Department of Health and Human Services, has prepared this report.

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BACKGROUND

The Orphan Drug Act of 1983 defined a rare disease as one affecting fewer that 200,000 Americans. The ORD provides information on rare diseases and conditions and assists in linking research investigators with research subjects and patients who are willing to participate in clinical research investigations.

The ORD attempts to identify areas of research opportunities in rare diseases or conditions. The ORD is committed not only at the request of Congress, but to satisfy its own concerns, to stimulating research on rare diseases and conditions by supporting the research Institutes and Centers (ICs) of NIH scientific workshops and symposia. Therefore, the ORD tries to make funds available for the ICs to conduct scientific workshops that are about diseases or groups of diseases for which current research activity is lacking or lagging or when there is a likelihood that the outcome of a workshop may stimulate research of a particular rare disease.

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ACCOMPLISHMENTS

The ORD has cosponsored with 17 NIH research ICs 69 workshops and symposia related to rare diseases. The table below indicates the number and approximate cost of the meetings for each of the three years the ORD has cosponsored workshops and symposia. A list of workshops and symposia for these three years has been attached. (See Appendix A)

FISCAL YEAR NUMBER OF WORKSHOPS & SYMPOSIA APPROXIMATE TOTAL COST



1995 15 $200,000
1996 30 $490,000
1997 24 $427,000

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Outcomes of Workshops and Symposia

The varied outcomes of the cosponsored workshops and symposia have had a profound effect on stimulating interest in rare diseases. Some of the outcomes from the various meetings are provided as highlights:

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  • ESTABLISH RESEARCH PRIORITIES BETWEEN THE IC'S, RESEARCH INVESTIGATORS, AND PATIENT SUPPORT GROUPS

    When the research ICs establish research priorities, they send a significant message to the research investigators, the voluntary health organizations, and the general public about the need for research on rare disorders. Each of these individuals and organizations provide information to the public and health providers. The following paragraphs describe some of the outcomes of workshops, which were held to establish research priorities, identify research directions, and support selected research projects.

    At a National Institute of Neurological Disorders and Stroke (NINDS)-sponsored international meeting, Hereditary Ataxias, plans were made to form a laboratory and clinical collaboration. The intent of the collaboration was to pursue new research findings in clinical research based on strong research rationales and to develop and initiate the most efficient, informative, and productive clinical trials/studies. Also, new information was presented regarding insights in the dominantly inherited ataxias and the recessively inherited ataxias. New information on Friedreich ataxia, a presentation of a new yeast gene homologue involved in mitochondrial iron transport, resulted in a prolonged discussion about how this finding will affect future basic and clinical research.

    At the National Institute of Dental Research (NIDR)-sponsored workshop on Ectodermal Dysplasias (EDs), it was noted that the ultimate aim of research on ED was to provide further understanding of the etiology, molecular basis, epidemiology, and therapy of ED. The group suggested that justification of funding for rare diseases could be strengthened by linking multiple research efforts on rare diseases; linking research supported by different NIH components would also help stimulate NIH-wide "ownership" of this research.

    During this workshop, three priorities were identified: develop clinical protocols and clinical standards for treating individuals with ED, support basic science and clinical/applied research on ED, and develop novel therapies. If these priorities were established and goals met, it was suggested that these efforts could be expected to result in the acceptance of standards of care, insurance coverage for ED, a database linking genetic diseases, a repository of human tissue samples, dissemination of information about ED, and increased public awareness of ED.

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  • DEVELOP PROGRAM ANNOUNCEMENTS TO SOLICIT RESEARCH GRANT APPLICATIONS

    Most funding for health-related research and development comes from the Federal government, private industry, voluntary agencies, and private foundations. Through its extramural-supported programs at medical centers, universities and other nonprofit organizations and its intramural programs, the NIH remains the dominant source of government funding for biomedical research. Most health-related research and development is performed by academic investigators with funds from government sources. Results from research investigations often take several years to be observed or to move understanding of a disease to a higher level. Several different mechanisms can be used to solicit and support disease-specific research.

    The development of Program Announcements (PAs) is a very effective, although often nonspecific, way to solicit grant applications from researchers. The PA directs the attention of the research community to a particular area(s) of interest for which NIH would like to receive applications. No specific set-aside funds are allocated for these PAs for biomedical or behavioral research.

    The Request for Applications (RFAs) or Request for Contracts (RFCs) describes a well-defined initiative on a specific area of research that invites applications. A designated amount of funds is set aside and all applications compete with one another. Many times ad hoc review committees with expertise in the specific area of interest are convened and review the applications.

    NIH publishes PAs, RFAs, and RFCs in the "NIH Guide for Grants and Contracts." This information is now available electronically from the Office of Extramural Research at the NIH web site. (URL-http://www.nih.gov/grants/guide/index.html)

    Each of these mechanisms and the unsolicited investigator-initiated grants--for example the R01 grant applications--provide opportunities for NIH and the individual investigator to stimulate research on rare diseases and conditions.

    As a result of a conference on AIDS-related Kaposi's Sarcoma, the National Cancer Institute (NCI) developed and issued several RFAs to foster extramural research on AIDS-related malignancies. Of particular note was the multi-institutional AIDS Malignancies Clinical Trials Consortium and reissuance of the RFA for studies of viral etiology of AIDS-associated malignancies.

    Recommendations from the workshop, Molecular Biology and Genetic Approaches to Sleep Control, sponsored by the National Heart, Lung, and Blood Institute and the Trans-NIH Sleep Research Coordination Committee led to the development of a Request for Proposals in the molecular and genetic approaches to sleep.

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  • ESTABLISH COLLABORATIVE RESEARCH ARRANGEMENTS

    Collaborative research agreements have been established between different individuals or institutions. Some agreements have been developed between investigators in the intramural research program with the non-NIH extramural research community at biomedical research facilities in the United States. Other collaborative research efforts have been observed between academic research centers in multi-site research efforts. Collaboration also exists between the ICs within the NIH.

    Increases in research costs will require even more collaborative efforts in the future. The ORD's support of workshops on rare diseases enables the ORD to make all interested parties more aware of ongoing research and opportunities to collaborate on research efforts.

    Several of the workshops conducted by the National Institute of Allergy and Infectious Diseases (NIAID) related to emerging and reemerging zoonoses and vector-borne infectious diseases required a coordinated effort with representatives from Mexico, Canada, and the United States.

    At the workshop, Adult Soft Tissue Sarcomas, sponsored by the NCI, the Connective Tissue Oncology Society was established. This multi-disciplinary society composed of pathologists, radiation oncologists, surgeons, and medical and pediatric oncologists, developed plans with the NCI staff to establish a tumor bank for soft tissue sarcomas. A follow-up meeting is planned with investigators from Europe, Canada, and the United States to promote research in this area and to coordinate Phase II and Phase III clinical trials in soft tissue sarcomas.

    The workshop on Smith-Lemli-Opitz syndrome conducted by the National Institute of Child Health and Human Development established collaborative arrangements in pursuing their research interests

    At the National Institute on Deafness and Other Communication Disorders sponsored conference, Molecular Biology of Hearing and Deafness, scientists and clinicians who had related interests in the molecular biology of deafness and the auditory system, interacted and established collaborations.

    The NINDS jointly sponsored the international meeting, Hereditary Ataxias, with the corporate cosponsor, Hoechst-Marion-Russel; the Medical Research Council of Canada; the Canadian Muscular Dystrophy Association; the National Ataxia Foundation, U.S.A.; the Muscular Dystrophy Association, U.S.A.; and the ORD, NIH. This workshop offered new information regarding insights in the dominantly inherited ataxias and the recessively inherited ataxias. In particular, new information on Friedreich ataxia, a presentation of a new yeast gene homologue involved in mitochondrial iron transport, resulted in a prolonged discussion about how this finding will affect future basic and clinical research directions. As a result of this meeting, plans were made to form a laboratory and clinical collaboration to pursue new research findings. The intent of the collaboration is to use strong research rationales to accomplish the most efficient, informative, and productive clinical trials/studies. The seeds for a large international collaboration were formulated at this meeting. New collaborations were formed among the scientist investigators presenting in their areas of expertise. The participants are hopeful that new research applications on the ataxias will be the fruit of these discussions and interactions.

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  • ESTABLISH CRITERIA FOR DIAGNOSING AND MONITORING RARE DISEASES

    Obtaining an accurate diagnosis is a critical stage for all patients with a rare disorder. Diagnosing rare diseases may be difficult. It has been reported by the National Commission on Orphan Diseases that about 50 percent of the patients reported receiving a diagnosis within a year of their first visit to a doctor. Nearly 30 percent of patients in the survey reported that as many as five years passed before their disease could be identified; and 15 percent reported that they were not diagnosed for six or more years. Patients feel isolated when physicians are unable to diagnose their illness correctly or promptly. Physicians, in turn, are often perplexed by the multitude of vague and contradictory symptoms and uncertainty about the characteristics of some diseases, which contributes to the lengthy process of arriving at a diagnosis.

    Establishing diagnostic criteria to aid clinicians is an essential activity for early recognition and differentiation of many of the rare disorders. This information will assist clinicians in evaluating and managing affected individuals. After obtaining a diagnosis, many patients research on their own to find information about their disease.

    The participants at the NINDS-sponsored workshop, Progressive Supranuclear Palsy, developed criteria for diagnosing and guidelines for monitoring this disorder.

    At the National Human Genome Research Institute (NHGRI)-sponsored workshop on Pallister-Hall syndrome, interim diagnostic criteria for this disorder were developed to assist clinicians in evaluating and managing affected individuals.

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  • DEVELOP ANIMAL MODELS

    The development and availability of animal models for specific disorders frequently stimulates research on a rare disorder and increases the likelihood that a useful intervention will be obtained. The animal models can also provide a greater understanding of the disease process in humans. Possible treatments can be used on animal models that have the disease-specific defect(s) at a much earlier stage in the development of a compound than can be used in clinical tests. Animal models are used as a screening mechanism to determine whether the treatments will be effective or cause adverse effects.

    Access and usage of animal models prior to initiating clinical trials are often good predictors of eventual outcomes. Many animal models are used for research in neurological disorders (especially brain and spinal cord injury), cancer treatments, and in mental disorders in adults and children. The participants at the NICHD conference, Animal Models for Mental Retardation, recognized that an accurate and reproducible phenotype in an animal model must be established if the outcome of gene therapy or other types of intervention for conditions with a mental retardation component are to be assessed correctly.

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  • SUPPORT PATIENT AND TISSUE REGISTRIES AS A RESEARCH RESOURCE

    Registries have different purposes. Registries of physicians and principal investigators may provide information on possible treatments and serve as an aid to patients. These registries can provide a recruitment-referral source for patients and physicians who may not be aware that they can benefit from participating in a clinical research study. A database of ongoing clinical trials may also serve this purpose. A third type of registry contains information about patients who have expressed a willingness to participate in clinical trials. Many voluntary organizations maintain such registries, but the registries include self-reported diagnoses, which are not always accurate or complete. Screening of these inquiries or consultations with a patient's physician may be required. These registries may be limited to the organization's mailing list. Such registries enable the investigator to select patients at various stages of a disease and to follow the course of their disease. These registries are often coupled with tissue banks.

    Registries of scientific and technical data also include biological samples such as brain banks, tissue or cell registries, and genetic materials. These registries have been shown to stimulate research on rare diseases. They are quite expensive to maintain and must usually be funded by Federal institutes or agencies. Although many investigators maintain their own tissue banks through an informal arrangement they make with a local laboratory, a central repository for information about registries and databanks is greatly needed. Central repositories could readily provide researchers the biological samples they need for their research.

    Many research investigators have indicated that a lack of patients, tissue, or blood samples is a major impediment to research advances. The voluntary patient support groups are encouraged to establish registries to distribute information about the need for patients or biological samples for clinical research purposes. The registries are a link between patients and research investigators. Often a single research investigator is the world-wide source of information on a particular rare disorder. The ORD is planning a special workshop on improved use of research resources, including patient and tissue registries and shared research resources. If patients knew that patient and tissue registries existed, they could be more easily recruited into research protocols, and investigators would have ready access to patient samples.

    The participants at the workshop, Adult Soft Tissue Sarcomas, sponsored by the NCI, the Connective Tissue Oncology Society, and the NCI staff developed plans to establish a tumor bank for soft tissue sarcomas to promote research in this area.

    The participants at the NICHD workshop on Smith-Lemli-Opitz syndrome developed plans to establish a patient registry to facilitate better research-investigator access to patients with this disorder.

    At the National Institute of Arthritis and Musculoskeletal and Skin Diseases sponsored workshop, Heritable Disorders of Connective Tissue, the participants recognized the joint efforts of clinicians, scientists, and patients in maintaining tissue and patient registries. Tissue registries provide researchers with ready access to patient samples because they facilitate the recruitment of patients into research efforts.

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  • DEVELOP RESEARCH PROTOCOLS

    The development of the research protocol in support of basic, clinical, or applied research is one of the most important steps in fostering collaboration among investigators and research centers. Continued use of multicenter research efforts often dictates the development of a common research protocol accessible to all members of the research team located at multiple sites. The development of research protocols require advice from different sources who have focused on a common goal--the development of the research protocol. Workshops enable participants to initiate discussions, develop plans, and provide assignments for agreed upon activities.

    The development of a common research protocol has been particularly beneficial for rare diseases when no one individual research center has sufficient patients to conduct a more definitive study of a larger sample size. The center does not have to rely on smaller studies or anecdotal reports of one patient in a small number of patients.

    NCI sponsored a strategy planning meeting on clinical staging and operative reporting for multi-institutional trials in head and neck squamous cancer. Head and neck cancer occurs relatively infrequently. When further subdivided by site, stage, and operability, it is estimated that only 500 cases per year qualify for multimodality treatment trials including surgery. To date, no multi-institutional study, which has included surgery as a form of treatment, has demonstrated a significant survival advantage to the experimental arm over the control arm. This meeting addressed three specific areas of concern, the clinical variables (co-morbid health status), which cause heterogeneity in the head and neck cancer population, the inadequacies of the tumor staging and classification system as it related to multi-institutional trials, and the variability in reporting surgical resection and pathologic analysis. Participants concluded that co-morbid health status should be categorized using the modified Kaplan-Feinstein Index, Karnofsky Performance Status, tobacco use and alcohol use, using the CAGE questionnaire. It was proposed that a detailed anatomic reporting scheme would replace tumor staging in multi-institutional trial settings. It was also recommended that surgical reporting in multi-institutional trials use a format compatible with computer analysis and identifiable to the revised staging system.

    The NIDR-sponsored workshop on Ectodermal Dysplasias (EDs) identified the development of clinical protocols and clinical standards for treating individuals with ED, support of basic science and clinical/applied research on ED, and the development of novel therapies as outcomes of this workshop. It was also noted that clinical protocols should be developed across the spectrum of clinical activities, which includes examinations, diagnosis, treatment, epidemiology studies, sampling of tissues, availability of information, nutritional guidance, and education of patients, families, and health care providers.

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  • INITIATE CLINICAL TRIALS

    Most rare disorders have no treatment available for which a clinical trial could be initiated. The initiation of clinical trials is the culmination of many years of basic and applied research. Research investigators, who may know that voluntary patient support groups exist, frequently ask for patients to participate in clinical trials. Research investigators are encouraged to seek these organizations to identify those patients who are willing to become ready partners in the research. Patient support groups are encouraged to become more visible to research investigators, health care providers, and the public. The ORD will attempt to develop a database to monitor research activity for those diseases and conditions that have been the subject of scientific workshops and symposia. For most of the diseases, insufficient time has passed to observe the planning and initiation of specific clinical trials or other research efforts. If an intervention is under investigation, information about this trial may appear in several databases provided by NIH. The following databases should be searched regularly to determine whether any recent activity has been initiated.

    Rare Diseases Clinical Research Database

    The ORD's website at NIH was created to meet the need for up-to-date, accurate information frequently requested by patients, their family members or care givers, health care providers, and research investigators. Selected information is available on ongoing clinical studies, name of research investigator(s), location of study, and eligibility or participation requirements. References to the scientific and medical literature and abstracts from these research studies are also available. The information in this database is updated regularly. The Rare Diseases Clinical Research Database now contains approximately 450 protocols. Approximately 400 new protocols are expected to be added each year. This database provides critical information to link the research community to patients that have rare diseases. The database is now available through the ORD website. Links to other government and nongovernment websites and other voluntary health organizations that provide information and support services are also provided.

    PDQ (Physician Data Query) System

    The PDQ system provides a wide range of cancer-related information from peer-reviewed statements. This information includes state-of-the-art care, cancer fact sheets, and information from ongoing research investigations. All information has been reviewed by oncology experts and is based on the results of current research. PDQ contains information on treatment, detection, prevention, genetics, supportive care, clinical trials, prototype breast cancer resources, ethnic or racial groups, a general information page on cancer, and a home page directed to children.

    National Library of Medicine AIDS Clinical Trials

    This database contains information about clinical trials of substances being tested for use against AIDS, HIV infection, and AIDS-related opportunistic diseases. This service requires that users register; but there is no fee. The URL is http://www.sis.nlm.nih.gov/HIV/HIVClinical.html.

    NIH Warren Grant Magnuson Clinical Center Hospital

    The Warren Grant Magnuson Clinical Center Hospital is a federally funded biomedical research facility that supports clinical investigations by NIH. The website provides information about the Clinical Center, its current studies, its procedures and resources, and access to current publications, educational materials, and research reports. Patients are admitted to the Clinical Center only on referral by a physician or dentist and for research purposes only. A complete diagnosis and medical history are necessary for admission. The URL is http://www.cc.nih.gov/nihstudies/.

    Computer Retrieval of Information on Scientific Projects (CRISP)

    The Computer Retrieval of Information on Scientific Projects (CRISP), currently available on the Internet as a gopher-based system and CD-ROM, is a major biomedical database system containing information on research projects and programs supported by the Department of Health and Human Services. Most of the research falls within the broad category of extramural projects, grants, contracts, and cooperative agreements conducted primarily by universities, hospitals, and other research institutions; and funded by the NIH and other government agencies. A relatively small number of research grants are funded by the Centers for Disease Control and Prevention (CDC), the Food and Drug Administration (FDA), the Health Resources and Services Administration (HRSA), and the Agency for Health Care Policy and Research (AHCPR). CRISP also contains information on the intramural programs of the NIH and the FDA. The URL is http://crisp.cit.nih.gov/.

    A follow-up meeting to the workshop, Adult Soft Tissue Sarcomas, sponsored by the NCI is planned. Investigators from Europe, Canada, and the United States will meet to promote research in this area and to coordinate Phase II and Phase III clinical trials in soft tissue sarcomas. Information on these clinical trials will be provided through the databases described above.

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  • DEVELOP PLANS TO DISSEMINATE INFORMATION ABOUT SPECIFIC RARE DISORDERS

    The development and distribution of information on a disease or treatment is critical to keep physicians, researchers, and the public, nationwide, informed. Also, information can be provided on the website to increase public awareness of information on research and treatments. All participants in clinical activities should know about the availability of clinical protocols. These protocols include diagnosis, treatment, epidemiology studies, sampling of tissues, availability of information, nutritional guidance, and education of patients, families, and health care providers. NIH provides considerable information on numerous disorders through existing databases, information centers, and information offices at each of the NIH ICs. Four popular databases on ongoing research were presented in the discussion under initiation of clinical trials. The recent decision to make information available free of charge from the National Library of Medicine, the Pub Med System, through its web-based home page provides information about both rare and common diseases.

    The workshop on Pallister-Hall syndrome sponsored by NHGRI will establish a website to provide information resources for families, clinicians and researchers.

    Following the publication of the summary statement from the technology assessment conference, Gaucher Disease: Current Issues in Diagnosis and Treatment, a pharmaceutical company involved in developing and distributing a product to treat Gaucher disease provided copies of this statement to physicians, nationwide.

    The participants of the NLAJD-sponsored workshop, Emerging Bacterial Zoonotic and Vector Borne Diseases, recommended the development and distribution of updated, understandable summary information about the nomenclature, definition, diagnostic criteria, clinical manifestations and course of the disease, and any available treatment.

    At the NIAID-sponsored workshop on Ectodermal Dysplasias (EDs), it was noted that a website could provide nutritional guidance and inform patients, families, and health care providers about protocols pertaining to ED.

    Following the NCI-sponsored strategy planning meeting on clinical staging and operative reporting for multi-institutional trials in head and neck squamous cancer, the American Society of Head and Neck Surgery, and the Society of Head and Neck Surgeons have approved the concept of a common database. In 1997, the software for this database is undergoing beta testing at 22 sites.

    Proceedings or final reports of the some of the workshops have been published in medical journals. Included in these are:

    • The report of the Workshop on Inherited Disorders of Connective Tissue was published in Matrix Biology, Vol. 15, pp. 211-229, 1996.

    • The Conference on AIDS-Related Kaposi's Sarcoma served as an integral portion of the President's Cancer Panel meeting and information generated by the Conference was published in the "Research News" section of Science, Vol. 268, pp. 1847-1848, 30 June 1997.

    • The proceedings of the Conference on Animal Models for Mental Retardation was the subject of a special issue of a peer-reviewed journal, Mental Retardation and Developmental Disabilities Research Reviews, Vol. 2, No. 4, 1996.

    • A statement was published in JAMA, Vol. 275, No. 7, pp. 548-553, 21 February 1996, on the Consensus Conference on Gaucher Disease: Current Issues in Diagnosis and Treatment.

    • A manuscript was published in Neurology, Vol. 47, pp. 1-9, July 1996, Clinical Research Criteria for the Diagnosis of Progressive Supranuclear Palsy.

    • The NCI-sponsored strategy planning meeting on clinical staging and operative reporting for multi-institutional trials in head and neck squamous cancer proceedings have been submitted for publication in the journal Head and Neck.

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  • PLAN FOR FUTURE OR EXPANDED WORKSHOPS

    There are approximately 6,000 rare diseases. For most of these diseases, there is no treatment or cure and there is little or no ongoing research. The individuals affected by these rare diseases often are very disheartened because it appears to them that federally funded institutions are not concerned. However, for most organizations, the development of a workshop provides hope that advances in research will be made in the not too distant future. Frequently, additional financial support is provided by ICs that are cosponsoring a workshop as a method to emphasize trans-NIH partnerships. It is hoped that the ORD will be able to cosponsor an additional 30 workshops in fiscal year 1998. The NIH ICs are now aware that resources are available from the ORD, and the Office has already received requests for support for workshops for fiscal years 1998 and 1999.

    Several of the workshops resulted in plans being developed for future workshops.

    An outcome of the National Institute of Mental Health (NIMH)-sponsored workshop, Rare Mental Disorders of Children and Adolescents, was an agreement that researchers in the field of genetics and autism would develop collaborative efforts by meeting twice a year to discuss various approaches to research problems in this area.

    The NIH convened a workshop, Emerging Diseases Facing Canada, Mexico and the United States: The Potential Influence of NAFTA on the Emergence of Rare Infectious Diseases. The threats posed by more than a dozen emerging or re-emerging infectious diseases were discussed to determine common areas of interest for which coordinated multinational actions might be beneficial. Future meetings have been scheduled to permit a coordinated response to emerging diseases.

    At the NINDS-sponsored international meeting, Hereditary Ataxias, participants agreed to try to hold annual research conferences for investigators in the ataxias to meet, share, and expand their research efforts.

    At the NIDR-sponsored workshop on Ectodermal Dysplasias (EDs), participants identified several activities for fostering the development of clinical protocols. It was suggested that follow-up workshops be held in conjunction with large scientific meetings. Topics for discussion include how to organize the developing research information. Identification of candidate genes and screening of these genes for specific diseases is one research initiative that will require multidiscipliary cooperation. Another activity might be to convene consensus conferences on examination, diagnosis, and treatment of ED.

    Other outcomes include planning additional workshops to delve further into research efforts required to solve problems, such as how to develop diagnostics, which are critical to surveillance efforts. Also discussed were the efforts required to develop vaccines, therapies, and other methods to control rare diseases. It has been suggested that follow-up meetings be scheduled to make sure recommendations from the workshops are implemented and research status is constantly monitored.

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    Stimulating International Research on Rare Diseases

    Rare diseases are not specific to the United States. Many of the workshops and symposia have been coordinated with other countries. Items of interest in these cooperative workshops include how the professional societies, worldwide, could advance the public and professional understanding of the complex research, issues and the scientific challenges and opportunities for research in rare diseases. These rare diseases are a worldwide public health problem and efforts are needed globally to address these problems and to ensure that there is a long-term commitment to support the needed research efforts. The Internet and the Web provide instantaneous global communications networks to improve the flow of information.

    Conference on Emerging Diseases: U.S.-Japan Cooperative Medical Science Program

    The NIAID and the U.S.-Japan Cooperative Medical Science Program cosponsored in July 1996 in Kyoto, Japan, a conference on emerging diseases. This conference was the first scientific meeting on this topic to be organized by the U.S.-Japan Cooperative Medical Science Program and was cosponsored by 22 institutions and agencies. The conference included scientific presentations designed to make the point that infectious diseases of all types are emerging. One session included a presentation on the complex network of host responses to infection. Presentations on selected bacterial, viral, and parasitic infections that have either emerged as problems in the U.S., Japan, or other regions or emerging was also discussed. Round table discussions focused the participants' attention on two important issues in responding to emerging infections. The first issue addressed was the possible contributions that professional societies in the region and worldwide could make to inform the public about the complex issues and concerns regarding emerging infections. The second issue addressed the scientific challenges and opportunities for research in the area of emerging and reemerging infectious diseases. The perspectives of numerous scientists, including many from the developing world, representing diverse institutions and expertise were heard.

    International Course on Vectors and Vector Borne Diseases in Africa

    The NIAID also cosponsored an International Workshop, Vectors and Vector Borne Diseases in Africa, which was held in Bamako, Mali, in July 1997. This course was part of the series of workshops sponsored annually. This is the second time the workshop was held outside the United States, and the first time it was held in Africa. This course differed from previous workshops in that discussions during the first week were devoted to malaria and its vectors. During the second week, the emphasis was on other major insect vector groups.

    The student body for the first international workshop, Vectors and Vector Borne Diseases in Africa, was carefully selected. The participants represented a cross section of the future leaders in the field of vectors and the diseases they transmit. The faculty was at a level of competence and relevance never before assembled.

    The workshop, which closely followed the meeting on malaria, held in Dakar in January 1997, presented the first opportunity for the participants to begin forging the links of cooperation and collaboration to strengthen African research capacities, seen as the cornerstone of the Dakar initiative. It is hoped that this workshop will prove to be part of the beginning of a major effort to improve and strengthen the capacity of African researchers to take the lead in addressing the problems of malaria and other vector borne diseases in their home countries.

    International Meeting on Hereditary Ataxias

    The NINDS-sponsored international meeting, Hereditary Ataxias, offered new information regarding insights in both the dominantly inherited ataxias and the recessively inherited ataxias. In particular, new information on Friedreich ataxia, with presentation of a new yeast gene homologue involved in mitochondrial iron transport, resulted in a prolonged discussion about how this finding will affect future basic and clinical research. As a result of this meeting, plans were made to form a laboratory and clinical collaboration to pursue new research findings into the clinical arena based on strong research rationales to accomplish the most efficient, informative, and productive clinical trials/studies. The seeds for this large international collaboration were formulated at this meeting. New collaborations were formed among the scientists presenting in their areas and from my discussions with various investigators, new research applications on the ataxias will hopefully be the fruit of these discussions and interactions. A goal of attempting yearly research workshop conferences for investigators in the ataxias to meet, share, and expand their research efforts was pursued as a result of this international meeting.

    Emerging Diseases Facing Canada, Mexico and the United States: The Potential Influence of NAFTA on the Emergence of Rare Infectious Diseases

    In September 1995, at the University of Texas Medical Branch at Galveston, the NIH convened a workshop, Emerging Diseases Facing Canada, Mexico and the United States: The Potential Influence of NAFTA on the Emergence of Rare Infectious Diseases, cosponsored by the ORD, the NIAID, and the U.S. Department of State. The threats posed by more than a dozen emerging or reemerging infectious diseases were discussed to determine common areas of research interest for which coordinated multinational actions might be beneficial.

    The presentations and discussions at this conference documented the factors related to the emergence of infectious diseases and described how emerging infections are public health problems. The participants at the conference agreed that additional efforts are needed in the region, and worldwide to address the problem of emerging infections. The participants also recognized that the elements needed to respond effectively to the problem of emerging and reemerging infections included the development of improved surveillance networks for infectious diseases and research activities at all levels. The availability of instantaneous global communications networks was identified as one important opportunity to improve the flow of surveillance information about emerging infectious diseases and to expedite the deployment of teams of experts to assess a problem. However, a response must also include the long-term commitment to support the needed research efforts. Research efforts will be required to develop solutions to the problem, including the development of diagnostics that are critical to the surveillance effort as well as the development of new vaccines, therapies, and other methods to control the infection.

    Future meetings have been scheduled to permit a coordinated response to emerging diseases.

    U.S.-Canada-Mexico Health Sciences Workshop

    A U.S.-Canada-Mexico Health Sciences workshop was held in September 1997. This workshop cosponsored by the NIAID, NICHD, NIEHS, the Office of Research on Women's Health (ORWH), the Fogarty International Center (FIC), the ORD, the Office of Alternative Medicine, the Medical Research Council of Canada, Health Canada, National Council of Science and Technology, and the Mexican Secretariat of Health. The objectives of the workshop were to develop information networks among scientists in the three countries that are actively conducting research in emerging and reemerging diseases, environmental health, and reproductive health and to identify creative, flexible mechanisms for trilateral support in these areas. Working groups in the three focal areas will include active researchers from the three countries, including NIH intramural and extramural staff, and policy level representatives from health science research agencies in the three countries.

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    PLANNED ACTIVITIES

    In fiscal year 1998, the ORD will cosponsor 28 workshops on specific or related groups of rare diseases, each workshop receiving $15,000 to $20,000. The list of workshops receiving support from ORD is provided in Appendix B.

    A goal of the ORD is to inform the ICs of research opportunities of rare disorders. The ICs should also be aware of other ICs ongoing or planned research on the same disease or related diseases. It has been possible to coordinate multi-institute sponsored workshops. Many rare disorders involve multiple organ systems that cross the research lines of different ICs. To avoid duplication of efforts, ICs should coordinate their research efforts, which may stretch the resource dollars they need to accomplish their goals.

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    CONCLUSION

    The resources that the ORD provided to the ICs have made possible many workshops and symposia that would not have been held if these resources had not been available. These workshops have stimulated interest in research on rare diseases that otherwise would have been put aside. It has not only stimulated the interest of NIH researchers, but also of voluntary health organizations, support groups, members of Congress, and the public.

    Several obstacles to advances in rare disease research were identified at the NIDR-sponsored workshop, Molecular Genetics of Ectodermal Dysplasias. The first obstacle related to the lack of a clear, standardized definition or diagnostic criteria. The second obstacle is the dilemma of providing initial emphasis on clinical or basic research. The third obstacle is the number of rare diseases and inadequate funding for most of the rare disorders or distribution of support for this research across NIH components. Linking multiple research efforts on rare diseases supported by different NIH components would also help stimulate NIH-wide ownership of research. Scientific workshops help identify those barriers to research advances. Once identified, these barriers can be addressed individually and removed as plans for additional research or a coordinated effort are implemented.


Last Reviewed: July 11, 2006
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