Biennial and Annual Report on the Rare Diseases Research Activities at the National Institutes of Health FY 2004

National Institute of Nursing Research (NINR)


NINR supports clinical and basic research to establish a scientific basis for the care of individuals across the life span: from management of patients during illness and recovery to the reduction of risks for disease and disability, the promotion of healthy lifestyles, promoting quality of life in those with chronic illness, and care for individuals at the end of life. NINR's rare diseases research investigators, using an interdisciplinary approach, examine strategies to control, manage, and prevent complications.

Recent Scientific Advances

Childhood Acute Lymphoblastic Leukemia

NINR-funded researchers are exploring mechanisms related to oxidative stress and chemotherapy-induced central nervous system insults. In a group of low-, medium-, and high-risk children diagnosed with acute lymphoblastic leukemia (ALL) (N = 7 in each group), support was found for the hypothesis that children in the high-risk group, observed during the most intensive ALL treatment phase, would exhibit the highest levels of oxidized phosphatidylcholine in the CNS cellular membrane (measured via cerebrospinal fluid). These findings, while only preliminary, strongly suggest a chemotherapy-induced oxidative stress association in the central nervous system and warrant further investigation.

NINR-funded investigators are also continuing to investigate math skills in ALL survivors. While previous studies have reported findings linking difficulties in math performance to children who have survived ALL, these studies have been limited by reliance on a single measure of math performance. Using multiple measures, NINR researchers reported that healthy children showed less difficulty overall in math performance compared to children who were acute ALL survivors (N = 15 in each group). Specifically, math performance in the ALL survivors was generally associated with memory function and speed in psycho-motor skills with dominant hand, while associations in healthy children were generally with basic reading and visual-motor integration skills. The researchers reported that these findings have implications for informing interventions since they elucidate the specific nature of math difficulties in ALL survivors.


NINR researchers assessed 163 epileptic children in an investigation of the relationship between neuropsychological functioning and academic achievement. In addition, the researchers also explored the relative contributions of demographic, seizure, and psychosocial variables to the aforementioned relationship. The results revealed that children with neuropsychological deficits, exposed to a nonoptimal home environment (disorganized and nonsupportive), are at the highest risk for poor academic outcomes.

Fibromyalgia Syndrome

NINR-funded researchers pilot tested the feasibility of adapting an intervention, originally developed for women with multiple sclerosis, for women with fibromyalgia syndrome (FMS). The researchers postulated that although two distinct diseases, FMS and MS share commonalities that increase the probability that an intervention efficacious for women with MS could be adapted for women with FMS. This wellness intervention employs a holistic approach and focuses on empowering women by providing access to knowledge and resources that impact health-promoting or life-style behavior change. Although more work is ongoing with a larger sample of women with FMS (N = 8 in current pilot study) to test the effectiveness of the intervention, the researchers have concluded that it is feasible to adapt the intervention developed for MS to individuals with FMS.

Irritable Bowel Syndrome

NINR researchers recruited 144 women with irritable bowel syndrome (IBS) for a three-arm randomized self-management intervention (eight-session multi-component; single session and usual care) trial. Results revealed that a multi-component self-management program was efficacious in reducing women’s gastrointestinal symptoms and improving their quality of life. Most significant is the finding that these improvements persisted up to a year post intervention.

Rare Diseases Research Initiatives

Program Activities (Completed)

End of Life: Although the field of palliative care has developed a substantial body of knowledge that addresses the needs of such patients and their families, there continues to be a dearth of persons with expertise in end of life and palliative care who are able to organize and conduct biomedical, clinical, and behavioral research in this field. A working group meeting (funded by the Office of Rare Disease) entitled Developing the Capacity for End of Life and Palliative Research was held on August 2–3, 2004, in Bethesda. The working group concluded the following: (1) there are some basic needs for end of life and palliative care research; the field needs individuals skilled at measurement and trained specifically in palliative care research design; (2) there is also a need for instruments appropriate to specific populations (e.g., children, cultural groups) and settings; (3) theoretical and conceptual frameworks are also needed to strengthen the research base. While some models exist, there was consensus among participants that more work is needed on conceptual models; and, (4) it was also concluded that there is currently much difficulty in standardizing interventions in addition to difficulties in defining outcomes. Finally, in keeping with the NIH Roadmap emphasis on multidisciplinary and interdisciplinary research, the group concluded that it is important to develop a common language across disciplines.

Biobehavioral Research: A 2-day working group meeting (funded by the Office of Rare Disease) with behavioral, biological, and immunological science experts was convened on July 15–16, 2004, in Bethesda. The workgroup titled Increasing Opportunities in Biobehavioral Research Utilizing Allergic Bronchopulmonary Aspergillosis (ABPA) as a Framework was convened to examine current knowledge and provide recommendations to further advance biobehavioral research. Discussions focused on areas for future science directions and on the need for educating researchers in biobehavioral methods of measurement and analysis. The use of interdisciplinary/biobehavioral approaches was emphasized. Specific recommendations included the following: (1) More communication is needed between scientists in biologic and behavioral fields. This working group is one step in fostering communication, sharing information, and addressing complex issues between disciplines. (2) Patients with complex diseases have both behavioral and biologic problems. New science initiatives should encourage investigator consideration of the interaction of psychosocial, behavioral, cultural, and biological issues. (3) Biobehavioral models and frameworks should be used to guide research related to biobehavioral problems. (4) The research skills of varied scientists to do biobehavioral research is limited. Many ideas on enhancing these skills were addressed. (5) A number of biobehavioral measures were discussed and the group recommended methodological studies to improve the robustness of findings.

Non-dementing Disorders: The prevalence of non-dementing brain disorders (ND-BD, e.g., multiple sclerosis, epilepsy, Parkinson’s disease, cerebral palsy) is undefined; however it is thought that as much as 5 percent of the American population may live with these “most common” brain diseases. In assessing the burden of these chronic primary diseases, little or no research has addressed the secondary effects, decreased cognitive and affective function, on physical health and quality of life. Even less is known of effective cognitive-behavioral and psychosocial interventions that may improve the health maintenance and QOL in this understudied population. A 1-day workshop (funded by Office of Rare Disease) entitled Promoting Research on Focal Cognitive Deficits in Non-dementing Disorder was convened October 12, 2004, in Bethesda, Maryland. The workgroup examined the cognitive and affective changes observed in some persons with ND-BD and identified intervention strategies to improve health behaviors, including health decision-making and QOL in these patients.

Rare Diseases Research Initiatives

Program Activities (New)

Pediatric and Adolescent AIDS in United States

Due to screening of the blood supply in the United States and treatment to prevent vertical transmission, HIV infection among young children in the United States is now extremely rare. However, HIV/AIDS among adolescents and young adults (13–24), while still rare among the population as a whole, is of great concern. CDC data point to several disturbing trends: There were 372 new AIDS diagnoses among adolescents 13 to 19 in 2001, and 1,461 among 20 to 24 year olds that year. This likely means that the youngsters were first infected at earlier ages. AIDS prevalence has been slowly rising in these age groups since 1998. Furthermore, minority youngsters are disproportionately involved in the epidemic. Issues related to primary prevention among young people are paramount. Also, issues related to maintaining treatment adherence among those who were infected early in life, in the face of the risk taking behaviors associated with adolescence, are critical areas for further research. A 2-day workgroup is being proposed for the summer of 2005. It is the premise of the proposed workshop that such research must be conducted in a manner that is culturally appropriate in order to develop meaningful results. Experts in HIV/AIDS research and cultural experts from nursing science, anthropology, sociology, psychology, and health communications will be invited to develop the paradigm of cultural competence as it relates to HIV/AIDS prevention, symptom management, and treatment adherence. The workgroup will be organized around general concepts of cultural competence in health promotion and health-related quality of life, with a focus on HIV/AIDS issues among younger Americans.

12 Futterman, DC. HIV and AIDS in adolescents. Adolescent Medicine. 15(2004): 370


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Last Reviewed: July 22, 2005