Observing the natural history of GNE Myopathy and related diseases
A Natural History Study of Patients With GNE Myopathy and GNE-Related Diseases
This study is collecting health information from people with GNE Myopathy and related diseases to better understand how these conditions progress and to help find new treatments in the future.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 125 (estimated) |
| Ages | 4 Years to 80 Years |
| Sex | All |
| Sponsor | National Institutes of Health Clinical Center (CC) NIH |
| Locations | 1 site (Bethesda, Maryland) |
| Trial ID | NCT01417533 on ClinicalTrials.gov |
What this trial studies
This observational study aims to gather genetic and medical information from individuals diagnosed with GNE Myopathy and other GNE-related diseases. Participants will undergo a series of evaluations, including medical history, physical and neurological exams, and various tests to assess the impact of the disease on their daily lives. The study seeks to characterize the mechanisms of the disease, its progression, and identify potential biomarkers for future clinical trials. By understanding the natural history of these conditions, researchers hope to pave the way for developing effective therapies.
Who should consider this trial
Good fit: Ideal candidates are individuals aged 18 to 80 with a confirmed diagnosis of GNE Myopathy who are not wheelchair-bound.
Not a fit: Patients with significant psychiatric or other serious health conditions that interfere with study compliance may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to better understanding and management of GNE Myopathy, ultimately improving patient outcomes.
How similar studies have performed: While this study focuses on a rare condition, similar observational studies have successfully characterized other myopathies, suggesting potential for valuable insights.
Eligibility criteria
Show full inclusion / exclusion criteria
* INCLUSION CRITERIA: 1. Age 4-80 years, either gender, inclusive. 2. Diagnosis of GNE myopathy or GNE-related diseases based upon the identification of GNE gene mutations. Molecular confirmation of the diagnosis will be obtained for all subjects in the study. 3. Subjects that are a carrier family member of a patient on the study are eligible to participate. 4. Must be able to provide informed consent. EXCLUSION CRITERIA: 1. Psychiatric illness or other diseases that would interfere with the subject s ability to comply with the requirements of this protocol. 2. Hepatic laboratory parameters (aspartate aminotransferase \[AST\], alanine aminotransferase \[ALT\]) or renal laboratory parameters (creatinine, blood urea nitrogen \[BUN\]) greater than 3 times the upper limit of normal. 3. Presence of clinically significant cardiovascular, pulmonary, hepatic, renal, hematological, metabolic, or gastrointestinal disease not related to the primary disease process.
Where this trial is running
Bethesda, Maryland
- National Institutes of Health Clinical Center — Bethesda, Maryland, United States (Recruiting)
Study contacts
- Principal investigator: Francis Rossignol, M.D. — National Human Genome Research Institute (NHGRI)
- Study coordinator: Andrea I Bowling, C.R.N.P.
- Email: andrea.bowling@nih.gov
- Phone: (301) 451-3824
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.