- Autism, dementia, ataxia, and loss of purposeful hand use
Your QuestionMy friend's 3-year-old daughter was just diagnosed with Rett Syndrome. A boy sibling was born last week, and he does not have Rett syndrome. Where can we find more information? How do you become part of a clinical trial?
We have identified the following information that we hope you find helpful. If you still have questions, please contact us.
Questions on this page
Several conditions caused by changes in other genes (such as FOXG1 syndrome) have overlapping signs and/or symptoms of Rett syndrome. These conditions were once thought to be variant forms of Rett syndrome, but are now usually considered to be separate disorders.
Additional information and supportive resources for Rett syndrome are available from the following organizations.
International Rett Syndrome Association
4600 Devitt Drive
Cincinnati, OH 45246
Online email: http://www.rettsyndrome.org/index.php?option=com_contact&Itemid=509
Web site: http://www.rettsyndrome.org/
Click here for general information about Rett syndrome.
The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. You can order a printed report on Rett syndrome through NORD’s Web site, or by calling or writing the NORD offices.
The link to the page on Rett syndrome is as follows. You can also access this page by visiting the NORD Web site, clicking on Rare Disease Database, and typing 'Rett syndrome' in the search box.
Please note that the first disease report requested by phone or mail is free; there is a charge for subsequent reports. Online, there is no charge to search the database of 2,000 organizations or to read abstracts about the diseases; there is a charge for the full-text disease reports ordered online.
National Organization for Rare Disorders (NORD)
55 Kenosia Avenue
PO Box 1968
Danbury, CT 06813-1968
Toll free: 800-999-6673 (voicemail only)
Web site: http://www.rarediseases.org/
The Angelman, Rett, and Prader-Willi Syndrome Consortium (ARPWSC) is an integrated group of academic medical centers, patient support organizations, and clinical research resources dedicated to conducting clinical research in genetic and neurodevelopmental disorders, with the goal of improving the care of patients with Angelman Syndrome, Prader-Willi Syndrome, and Rett Syndrome. Contact the ARPWSC to learn more about joining the Rett syndrome registry and participating in research studies.
Angelman, Rett & Prader-Willi Syndromes Consortium Registry
Department of Molecular and Human Genetics
Baylor College of Medicine
One Baylor Plaza Rm. T619
Houston TX 77030
Web site: http://rarediseasesnetwork.epi.usf.edu/arpwsc/index.htm
The U.S. National Institutes of Health, through the National Library of Medicine, developed ClinicalTrials.gov to provide patients, family members, and members of the public with current information on clinical research studies. Currently, 5 clinical trials are identified as enrolling individuals with Rett syndrome. To find these trials, click on the link above and use "Rett syndrome" as your search term. After you click on a study, review its "eligibility" criteria to determine its appropriateness. Use the study’s contact information to learn more. Check this site often for regular updates.
You can also contact the Patient Recruitment and Public Liaison (PRPL) Office at the National Institutes of Health (NIH). We recommend calling the toll-free number listed below to speak with a specialist, who can help you determine if there are any other relevent clinical trials.
Patient Recruitment and Public Liaison Office
NIH Clinical Center
Bethesda, Maryland 20892-2655
Web site: http://clinicalcenter.nih.gov/
If someone you know is interested in enrolling in a clinical trial, you can find helpful general information on clinical trials at the following ClinicalTrials.gov Web page.
A tutorial about clinical trials that can also help answer your questions can be found at the following link from the National Library of Medicine:
Resources on many charitable or special-fare flights to research and treatment sites and low-cost hospitality accommodations for outpatients and family members, as well as ambulance services, are listed on the Web site of the Office of Rare Diseases (ORD), part of the National Institutes of Health.
- John Christodoulou and Gladys Ho. MECP2-Related Disorders. GeneReviews. http://www.ncbi.nlm.nih.gov/books/NBK1497/. Accessed 8/4/2014.
- Rett syndrome. Genetics Home Reference. December, 2013; http://ghr.nlm.nih.gov/condition/rett-syndrome. Accessed 8/6/2014.
- Rett syndrome. Genetics Home Reference Web site. 2011; http://ghr.nlm.nih.gov/condition=rettsyndrome. Accessed 12/8/2011.