Congenital fiber type disproportion
- Congenital fiber-type disproportion myopathy
- Fiber-type disproportion myopathy, congenital
- Myopathy, congenital with fiber-type disproportion
Your QuestionMy child has congenital fiber type disproportion due to a mutation in SEPN1. Are there any new drugs or vitamins (even under trial) to treat this condition.
We have identified the following information that we hope you find helpful. If you still have questions, please contact us.
Questions on this page
- What is congenital fiber type disproportion?
- What is SEPN1 and how does it affect the growth and development of muscles?
- Are there any new therapies, medications, or supplements to cure or treat congenital fiber type disproportion?
- How can I learn more about research studies involving congenital fiber type disproprotion?
The Beggs laboratory at Children’s Hospital in Boston is conducting research studies involving congenital myopathies, including congenital fiber type disproportion. The primary goal of this research is to better understand the genes and proteins involved in muscle functioning and disease. These studies will lead to an improved understanding of the causes of congenital myopathy and allow for improved diagnosis and treatment.
You can find additional information on congenital fiber type disproportion as well as instructions on how to participate in the Beggs laboratory research trial at the following Web site.
The 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. While no studies involving congenital fiber type disproportion specifically are listed at this time, there are a few studies enrolling children with congenital myopathies in general. To find these trials, click on the link above and use "congenital myopathy" 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 your child is eligible for any clinical trials.
Patient Recruitment and Public Liaison Office (PRPL)
NIH Clinical Center
Bethesda, Maryland 20892-2655
Web site: http://clinicalcenter.nih.gov/
If you are interested in enrolling your child 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 Research (ORDR), part of the National Institutes of Health.
In addition, the Research Portfolio Online Reporting Tool (RePORT) provides access to reports, data, and analyses of research activities at the National Institutes of Health (NIH), including information on NIH expenditures and the results of NIH-supported research. Although these projects may not conduct studies on humans, you may want to contact the investigators to learn more. Currently no studies involving congenital fiber-type disproportion are listed, however there are a number of studies involving congenital myopathies in general. To search for studies, click on the link and enter "congenital myopathy” in the search box. Then click “Submit Query”. Review the study information to determine it relevance. You can contact the researchers for further details regarding a study.
In addition we searched RePORT using "selenoprotein" as our search term. By doing so we identified the following trials which are investigating further the role of selenoproteins in health and disease:
Title: An Unexpected Role for ELF4A3 in Regulating GPX1 Selenoprotein Expression
Priniciple Investigator: Michael Everest Budiman
Title: Selenoprotein synthesis: Redefinition of Selenocysteine-Encoding UGA Codons
Principle Investigator: Michael Howard
University of Utah
- Congenital fiber-type disproportion. Genetics Home Reference (GHR). 2010; http://ghr.nlm.nih.gov/condition/congenital-fiber-type-disproportion. Accessed 9/5/2012.
- NINDS Congenital Myopathy Information Page. National Institute of Neurological Disorders and Stroke (NINDS). 2011; http://www.ninds.nih.gov/disorders/myopathy_congenital/myopathy_congenital.htm. Accessed 9/5/2012.
- DeChene ET, Kang PB, Beggs AH. Congenital Fiber-Type Disproportion. GeneReviews. 2008; http://www.ncbi.nlm.nih.gov/books/NBK1259/. Accessed 9/5/2012.