ROHHAD

Genetic and Rare Diseases Information Center (GARD)

Rapid-onset obesity with hypothalamic dysfunction, hypoventilation and autonomic dysregulation

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ROHHAD
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Rapid-onset obesity with hypothalamic dysregulation, hypoventilation, and autonomic dysregulation (ROHHAD) is a newly described syndrome that can cause cardiorespiratory arrests and death.^[1] As the name suggests, the most characteristic features include rapid-onset obesity in the first 10 years of life, followed by hypothalamic dysfunction, and then onset of symptoms of autonomic dysregulation (impairment of the autonomic nervous system) with later onset of alveolar hypoventilation (reduced lung function). The cause of this syndrome, once known as late-onset central hypoventilation syndrome with hypothalamic dysfunction (LO-CHS/HD), is unknown. Although there is no cure for this condition at this time, early diagnosis and proper management may help to avoid catastrophic consequences.^[2]

More about ROHHAD

References

Bougneres P, Pantalone L, Linglart A, Rothenbuhler A, Le Stunff C. Endocrine manifestations of the rapid-onset obesity with hypoventilation, hypothalamic, autonomic dysregulation and neural tumor (ROHHADNET) syndrome in early childhood. J Clin Endocrinol Metab. October 2008;:. Available at: http://jcem.endojournals.org/cgi/rapidpdf/jc.2008-0238v1.pdf. November 28, 2011.
Ize-Ludlow D, Gray JA, Sperling MA, Berry-Kravis EM, Milunsky JM, Farooqi IS, Rand CM, Weese-Mayer DE. Rapid-Onset Obesity With Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation Presenting in Childhood. Pediatrics. July 2007;:. Available at: http://pediatrics.aappublications.org/cgi/content/full/120/1/e179. November 28, 2011.

Questions & Answers (Found 1 Question)

A list of questions from the public on rare and/or genetic diseases that have been answered by the Genetic and Rare Disease Information Center. Click on each question to find the answer.

My child has been diagnosed with rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD). What can you tell me about this conditon? All the information I have located is written by parents of children who have ROHHAD. ( Click here for answer)

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For more information about ROHHAD click on the boxes below:

More Detailed Information	Organizations	Medical Products	Services	Scientific Conferences	Clinical Trials & Research

General \| Selected Full-Text Journal Articles
More Detailed Information (Found 5 resources) Links where you can find more general information, comprehensive resources, selected full text journal articles, and news updates. General The Children's Memorial Hospital has developed an information page on ROHHAD. Click on the link to access the information. The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic. PubMed is a searchable database of medical literature and lists journal articles that discuss ROHHAD. Click on the link to view a sample search on this topic. Selected Full-Text Journal Articles Ize-Ludlow D, Gray JA, Sperling MA, Berry-Kravis EM, Milunsky JM, Farooqi IS, Rand CM, Weese-Mayer DE. Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation Presenting in Childhood. Pediatrics 2007;120;e179-e188. Bougneres P, Pantalone L, Linglart A, Rothenbuhler A, Le Stunff C. Endocrine Manifestations of the Rapid-Onset Obesity with Hypoventilation, Hypothalamic, Autonomic Dysregulation, and Neural Tumor Syndrome in Childhood. J Endocrinol Metab. 2008 Oct;93(10):3971-80. Epub 2008 Jul 15.

General | Selected Full-Text Journal Articles

More Detailed Information (Found 5 resources)
Links where you can find more general information, comprehensive resources, selected full text journal articles, and news updates.

General
- The Children's Memorial Hospital has developed an information page on ROHHAD. Click on the link to access the information.
- The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
- PubMed is a searchable database of medical literature and lists journal articles that discuss ROHHAD. Click on the link to view a sample search on this topic.
Selected Full-Text Journal Articles
- Ize-Ludlow D, Gray JA, Sperling MA, Berry-Kravis EM, Milunsky JM, Farooqi IS, Rand CM, Weese-Mayer DE. Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation Presenting in Childhood. Pediatrics 2007;120;e179-e188.
- Bougneres P, Pantalone L, Linglart A, Rothenbuhler A, Le Stunff C. Endocrine Manifestations of the Rapid-Onset Obesity with Hypoventilation, Hypothalamic, Autonomic Dysregulation, and Neural Tumor Syndrome in Childhood. J Endocrinol Metab. 2008 Oct;93(10):3971-80. Epub 2008 Jul 15.

Disease-Specific Organizations \| Umbrella Organizations \| Social Networking Websites
Organizations (Found 9 resources) Groups providing a wide range of services, supportive resources, and information. Disease-Specific Organizations European Federation of Autonomic Nervous System Societies Web site: http://www.efns.org/European-Federation-of-Autonomic-Nervous-System-Societies.278.0.html American Autonomic Society Web site: http://www.mc.vanderbilt.edu/gcrc/aas/indx.htm American Cancer Society 1599 Clifton Road NE Atlanta GA 30329 Toll-free: 1-800-227-2345 E-mail: http://www.cancer.org/asp/contactUs/cus_global.asp Web site: http://www.cancer.org Umbrella Organizations Genetic Alliance 4301 Connecticut Avenue NW Suite 404 Washington, DC 20008-2369 Telephone: 202-966-5557 Fax: 202-966-8553 E-mail: info@geneticalliance.org Web site: http://www.geneticalliance.org National Organization for Rare Disorders (NORD) 55 Kenosia Avenue PO Box 1968 Danbury, CT 06813-1968 Toll-free: 1-800-999-6673 (voicemail only) Telephone: 203-744-0100 TTY: 203-797-9590 Fax: 203-798-2291 E-mail: orphan@rarediseases.org Web site: http://www.rarediseases.org/ Social Networking Websites DNAandU.org is a Web site and blog that collects firsthand stories from people facing issues, making tough decisions, and using genomic (DNA) information in their own healthcare. Click on the link to learn from their experiences and/or submit your own story. Madisons Foundation P.O. Box 241956 Los Angeles, CA 90024 Telephone: 310-264-0826 Fax: 310-264-4766 E-mail: getinfo@madisonsfoundation.org Web site: http://www.madisonsfoundation.org/ The National Organization of Rare Disorders (NORD) has partnered with Inspire.com to launch an online community for people with rare diseases called The NORD Rare Disease Community. This community connects medical patients, family members, caregivers, and professionals. Click on The NORD Rare Disease Community to learn more. RareShare is an online social hub dedicated to patients, families and healthcare professionals affected by rare medical disorders. Click on RareShare to learn more.

Disease-Specific Organizations | Umbrella Organizations | Social Networking Websites

Organizations (Found 9 resources)
Groups providing a wide range of services, supportive resources, and information.

Disease-Specific Organizations
- European Federation of Autonomic Nervous System Societies
  Web site: http://www.efns.org/European-Federation-of-Autonomic-Nervous-System-Societies.278.0.html
- American Autonomic Society
  Web site: http://www.mc.vanderbilt.edu/gcrc/aas/indx.htm
- American Cancer Society
  1599 Clifton Road NE
  Atlanta GA 30329
  Toll-free: 1-800-227-2345
  E-mail: http://www.cancer.org/asp/contactUs/cus_global.asp
  Web site: http://www.cancer.org
Umbrella Organizations
- Genetic Alliance
  4301 Connecticut Avenue NW
  Suite 404
  Washington, DC 20008-2369
  Telephone: 202-966-5557
  Fax: 202-966-8553
  E-mail: info@geneticalliance.org
  Web site: http://www.geneticalliance.org
- National Organization for Rare Disorders (NORD)
  55 Kenosia Avenue
  PO Box 1968
  Danbury, CT 06813-1968
  Toll-free: 1-800-999-6673 (voicemail only)
  Telephone: 203-744-0100
  TTY: 203-797-9590
  Fax: 203-798-2291
  E-mail: orphan@rarediseases.org
  Web site: http://www.rarediseases.org/
Social Networking Websites
- DNAandU.org is a Web site and blog that collects firsthand stories from people facing issues, making tough decisions, and using genomic (DNA) information in their own healthcare. Click on the link to learn from their experiences and/or submit your own story.
- Madisons Foundation
  P.O. Box 241956
  Los Angeles, CA 90024
  Telephone: 310-264-0826
  Fax: 310-264-4766
  E-mail: getinfo@madisonsfoundation.org
  Web site: http://www.madisonsfoundation.org/
- The National Organization of Rare Disorders (NORD) has partnered with Inspire.com to launch an online community for people with rare diseases called The NORD Rare Disease Community. This community connects medical patients, family members, caregivers, and professionals. Click on The NORD Rare Disease Community to learn more.
- RareShare is an online social hub dedicated to patients, families and healthcare professionals affected by rare medical disorders. Click on RareShare to learn more.

Medical Products (Found 2 resources)

U.S. Food and Drug Administration

The Office of Orphan Products Development (OOPD)

The medications listed in the table below have been approved by the Food and Drug Administration (FDA) for treatment of this condition. The FDA Office of Orphan Products Development designates "orphan products" for those that treat rare diseases affecting fewer than 200,000 Americans. The table below may not be an exhaustive list of drugs or products used to treat this condition. There may be other products available that are not considered orphan products. To search all FDA approved drugs, visit Drugs@FDA You can find orphan products used to treat other conditions by searching the Orphan Drug Product Designation database.

Generic Name	Trade Name (Manufacturer Name)	Indication	Resources
Follitropin alfa, recombinant	Gonal-f® (EMD Serono, Inc.)	For the induction of spermatogenesis in men with primary and secondary hypogonadotropic hypogonadism in whom the cause of infertility is not due to primary testicular failure.	Drug Information Portal
Gonadorelin acetate	Lutrepulse (Ferring Laboratories, Inc.)	For induction of ovulation in women with hypothalamic amenorrhea due to a deficiency or absence in the quantity or pulse pattern of endogenous GnRH secretion.

Specialty Clinics/Treatment Centers \| Parent Resources
Services (Found 3 resources) Links to Web sites that offer services, such as tools to locate specialists, specialty clinics, genetic services, and genetic testing laboratories. Many individuals want to know about healthcare professionals or researchers who have knowledge of their conditions. When a condition is rare, it can be difficult to find someone who has seen many cases. Although there is no list of experts in rare diseases, GARD's How to Find an Expert fact sheet provides several ways to identify healthcare professionals who have experience with a particular condition. Click on the link to access this resource and learn more. Specialty Clinics/Treatment Centers Center for Autonomic Medicine in Pediatrics Children's Memorial Hospital 2300 Children's Plaza Chicago, IL 60614 Phone: (773) 880-8188 Web: http://www.childrensmemorial.org/depts/autonomic-medicine/rohhad.aspx Parent Resources The Parent Technical Assistance Center Network provides a list of the Parent Training and Information Centers in each state. These centers are funded by the United States Department of Education to provide early intervention and special education information and training to parents of children with disabilities from birth to age 26. Click on the link to find the Parent Center in your state.

Specialty Clinics/Treatment Centers | Parent Resources

Services (Found 3 resources)
Links to Web sites that offer services, such as tools to locate specialists, specialty clinics, genetic services, and genetic testing laboratories.

- Many individuals want to know about healthcare professionals or researchers who have knowledge of their conditions. When a condition is rare, it can be difficult to find someone who has seen many cases. Although there is no list of experts in rare diseases, GARD's How to Find an Expert fact sheet provides several ways to identify healthcare professionals who have experience with a particular condition. Click on the link to access this resource and learn more.
Specialty Clinics/Treatment Centers
- Center for Autonomic Medicine in Pediatrics
  Children's Memorial Hospital
  2300 Children's Plaza
  Chicago, IL 60614
  Phone: (773) 880-8188
  Web: http://www.childrensmemorial.org/depts/autonomic-medicine/rohhad.aspx
Parent Resources
- The Parent Technical Assistance Center Network provides a list of the Parent Training and Information Centers in each state. These centers are funded by the United States Department of Education to provide early intervention and special education information and training to parents of children with disabilities from birth to age 26. Click on the link to find the Parent Center in your state.

Upcoming Conferences \| Past Conferences
Scientific Conferences (Found 3 resources) Resources where you can find information on completed and upcoming scientific conferences and programs. Upcoming Conferences RDCRN 3rd Conference on Clinical Research for Rare Diseases, October 2, 2012 Location: Hilton Washington DC/Rockville Hotel & Executive Meeting Center, Rockville, MD Description: Clinical research in rare diseases presents a number of challenges and unique issues that are not usually considered in the training of clinical investigators through existing training programs. Goals of the conference include: Direct instruction of trainees and new investigators in rare disease research methodology; Development of a reusable curriculum/syllabus on rare disease research methodology; Stimulation of ideas regarding the unique issues facing investigators engaged in the study of rare diseases Past Conferences Workshop on Rare Syndromic Body Fat Disorders: What Can They Teach Us?, March 1, 2012 - March 2, 2012 Location: Lister Hill Auditorium, NIH Campus, Bethesda, MD Description: We hope to get a good estimate of the individuals with obesity and lipodystrophic syndromes where the genetic causes are unknown, and to learn what hurdles are commonly encountered when trying to find causative mutations. Through presentations and discussions we hope to encourage further investigation of cells from families with rare single gene or syndromic obesity disorders, to learn about unknown biological pathways regulating energy balance, and to encourage further human research in order to shed light on why obesity occurs in some individuals with the “same” syndrome but not others. VI International Conference on Rare Diseases and Orphan Drugs (ICORD 2010): Global Approach to Accessibility in Rare Diseases, Orphan Drugs and Neglected Diseases , March 18, 2010 - March 20, 2010 Location: Palais Rouge Convention Center, Palermo, Buenos Aires Description: For the first time, the VI International Conference on Rare Diseases and Orphan Drugs (ICORD 2010) was convened in the southern hemisphere in agreement with its aim of globalization of rare diseases research and orphan products development activities.

Upcoming Conferences | Past Conferences

Scientific Conferences (Found 3 resources)
Resources where you can find information on completed and upcoming scientific conferences and programs.

Upcoming Conferences
- RDCRN 3rd Conference on Clinical Research for Rare Diseases, October 2, 2012
  Location: Hilton Washington DC/Rockville Hotel & Executive Meeting Center, Rockville, MD
  Description: Clinical research in rare diseases presents a number of challenges and unique issues that are not usually considered in the training of clinical investigators through existing training programs. Goals of the conference include: Direct instruction of trainees and new investigators in rare disease research methodology; Development of a reusable curriculum/syllabus on rare disease research methodology; Stimulation of ideas regarding the unique issues facing investigators engaged in the study of rare diseases
Past Conferences
- Workshop on Rare Syndromic Body Fat Disorders: What Can They Teach Us?, March 1, 2012 - March 2, 2012
  Location: Lister Hill Auditorium, NIH Campus, Bethesda, MD
  Description: We hope to get a good estimate of the individuals with obesity and lipodystrophic syndromes where the genetic causes are unknown, and to learn what hurdles are commonly encountered when trying to find causative mutations. Through presentations and discussions we hope to encourage further investigation of cells from families with rare single gene or syndromic obesity disorders, to learn about unknown biological pathways regulating energy balance, and to encourage further human research in order to shed light on why obesity occurs in some individuals with the “same” syndrome but not others.
- VI International Conference on Rare Diseases and Orphan Drugs (ICORD 2010): Global Approach to Accessibility in Rare Diseases, Orphan Drugs and Neglected Diseases , March 18, 2010 - March 20, 2010
  Location: Palais Rouge Convention Center, Palermo, Buenos Aires
  Description: For the first time, the VI International Conference on Rare Diseases and Orphan Drugs (ICORD 2010) was convened in the southern hemisphere in agreement with its aim of globalization of rare diseases research and orphan products development activities.


Clinical Trials & Research (Found 2 resources) Resources where you may find research studies and clinical trials. NIH Clinical Trials and You is a website developed by the National Institutes of Health (NIH) to help people learn more about clinical trials, why they matter, and how to participate. Patient Registry ResearchMatch is a free national research registry designed to bring together patients, healthy volunteers and researchers. Anyone from the United States can register with ResearchMatch, and a parent, legal guardian, or caretaker may register on behalf of a volunteer. Researchers from participating institutions use the ResearchMatch database to search for patients or healthy volunteers who meet the study criteria. Many studies are looking for healthy people of all ages, while some are looking for people with specific illnesses. ResearchMatch was developed by major academic institutions across the country and is funded by the National Center for Research Resources (NCRR), a center of the National Institutes of Health (NIH), the primary Federal agency for conducting and supporting medical research. Click on the link to learn more about ResearchMatch.

Clinical Trials & Research (Found 2 resources)
Resources where you may find research studies and clinical trials.

- NIH Clinical Trials and You is a website developed by the National Institutes of Health (NIH) to help people learn more about clinical trials, why they matter, and how to participate.
Patient Registry
- ResearchMatch is a free national research registry designed to bring together patients, healthy volunteers and researchers. Anyone from the United States can register with ResearchMatch, and a parent, legal guardian, or caretaker may register on behalf of a volunteer. Researchers from participating institutions use the ResearchMatch database to search for patients or healthy volunteers who meet the study criteria. Many studies are looking for healthy people of all ages, while some are looking for people with specific illnesses. ResearchMatch was developed by major academic institutions across the country and is funded by the National Center for Research Resources (NCRR), a center of the National Institutes of Health (NIH), the primary Federal agency for conducting and supporting medical research. Click on the link to learn more about ResearchMatch.