Scientists track rare muscle disease to unlock its secrets
NCT ID NCT01417533
First seen Jun 27, 2026 · Last updated Sep 17, 2026 · Updated 14 times
Summary
This study followed 78 people with GNE myopathy, a rare genetic disease that causes progressive muscle weakness starting in young adulthood. Researchers collected medical history, blood samples, and muscle function tests over up to two years to understand how the disease progresses. No treatment was given; the goal was to learn more about the condition and identify useful markers for future studies.
What this could mean
Our plain-language read of the trial. This is informational only, not medical advice or a prediction.
- What this could lead to
- If successful, this study could help identify key markers of disease progression, paving the way for future treatment trials.
- What could go wrong
- This is an observational study, not a treatment trial, so it offers no direct benefit to participants. Results may not lead to immediate therapies.
This is an AI summary of the original study and may miss details. Read our disclaimer.
Study facts
What this study's own registry entry says, in plain language.
- Participants
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78 people
The number who actually took part.
- Started
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Sep 2011
- Lead sponsor
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A government research agency
The lead sponsor is the US National Institutes of Health.
Who can take part
This study's own entry requirements. Only the study team can say for certain whether you qualify.
Who is studied
Patients with a diagnosis of GNE myopathy or GNE-related disease. Subjects that are a carrier family member or a caregiver of a patient on the study are eligible to participate.
- Ages
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4 to 80 years
- Sex
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Anyone
- Healthy volunteers
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Not accepted
This study is not open to healthy volunteers. The entry requirements below say who it is open to.
Show the full entry requirements Hide the full entry requirements
Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.
* 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.
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Conditions
The condition(s) this trial relates to.
As listed by the trial registrant
The condition terms exactly as the trial's registrant entered them.
Contacts and locations
Locations
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National Institutes of Health Clinical Center
Bethesda, Maryland, 20892, United States
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Other studies related to the condition(s) this trial covers.