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Researchers hunt for muscle clues in rare dystrophy

NCT ID NCT01851447

Knowledge-focused Sponsor: Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) Source: ClinicalTrials.gov ↗

What the study statuses mean

This study's is highlighted.

Recruitment status, easiest to join first

Recruiting now
This trial is taking on new participants right now.
Not yet recruiting
Registered, but not yet taking participants.
By invitation only
Not open to general applications. Only people the study team invites can take part.
Paused
Paused for now. It may or may not start again.
Ongoing This study
Running, but no longer taking on new participants.
Completed
The trial has finished. Results may not be published yet.
Stopped early
Stopped early, before it reached the end. That can be for many reasons, including safety.
Cancelled
Cancelled before anyone took part.

Expanded access (not trials)

Expanded access
Not a trial. This treatment can be requested outside a study, case by case, for people who qualify.
Expanded access (paused)
Not a trial. The treatment can normally be requested outside a study, but is unavailable right now.
Expanded access (ended)
Not a trial. The treatment could once be requested outside a study, but no longer can.
Approved
The treatment has been approved, so it is available normally rather than through this programme.

When the status isn't known

Details not published
The full record has not been published yet, so there is little to show here.
Status unknown
This status has not been confirmed recently, so it may be out of date.

First seen Jun 27, 2026 · Last updated Sep 17, 2026 · Updated 18 times

Summary

This pilot study looks at biomarkers in the blood of people with fragile sarcolemmal muscular dystrophy, a condition that makes muscle membranes weak. Researchers will collect blood samples at rest and after exercise during four 5-day hospital stays. The goal is to better understand how the disease affects muscles, which could guide future treatments. No treatment is given in this study.

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

11 people

The number who actually took part.

Started

Nov 2014

Lead sponsor

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

11 patients, 18 years or older with early adulthood or later onset of a genetically diagnosed FSMD will be enrolled in this study. We estimate no more than 50 patients to be eligible for enrollment. This pilot study will accept a maximum of 11 patients.

Ages

18 to 99 years

Sex

Anyone

Healthy volunteers

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

Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.

* INCLUSION CRITERIA: * Aged 18 or older * Have a confirmed genetic diagnosis of one of the FSMDs or have a clinical phenotype consistent with one of the FSMDs * Be able to travel to the NIH Clinical Center at the NIH for studies * Able to commit to multiple 5 day stays at the NIH Clinical Center * Established primary care physician * Ambulant: able to walk 10 meters or 33 feet without walking aids or orthotics EXCLUSION CRITERIA: * Fail to meet the above inclusion criteria * Are unable or unwilling to be examined * Adults unable to provide their own consent * Have active, on-going medical problems such as (e.g. diabetes, hypothyroidism, pancreatitis, anemia, cancer, renal, hepatic, pulmonary or cardiac disease) or who have undergone recent surgery (i.e. less than 8 days post-surgery) * Pregnant females * Currently taking any or a combination of anti-inflammatory drugs, statins or other drugs with known myotoxicity, narcotics

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Conditions

The condition(s) this trial relates to.

autosomal recessive limb-girdle muscular dystrophy type 2B autosomal recessive limb-girdle muscular dystrophy type 2F autosomal recessive limb-girdle muscular dystrophy type 2I autosomal recessive limb-girdle muscular dystrophy type 2L Becker muscular dystrophy hereditary disease Miyoshi myopathy Motor Activity

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

Genetic disorder

Contacts and locations

Locations

  • National Institutes of Health Clinical Center

    Bethesda, Maryland, 20892, United States

More trials for these conditions

Other studies related to the condition(s) this trial covers.