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Global study tracks rare muscle disease to pave way for future treatments

NCT ID NCT06374719

Knowledge-focused Sponsor: Clinic for Special Children Source: ClinicalTrials.gov ↗

What the study statuses mean

This study's is highlighted.

Recruitment status, easiest to join first

Recruiting now This study
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
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 Results may not be published yet.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This status has not been confirmed recently, so it may be out of date.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 Jun 27, 2026

Summary

This study follows children and adults worldwide who have a rare genetic muscle disease called TNNT1 myopathy. Researchers aim to document how the disease progresses over time, including survival and motor milestones. The goal is to identify reliable measures that can be used in future clinical trials for potential therapies.

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 identify key measures for future trials, potentially speeding up development of treatments for this rare muscle disease.
What could go wrong
This is an observational study, not a treatment trial. It will not directly test any therapy, and results may not lead to immediate clinical changes.

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

About 40 people

The number the study aims to enrol. It can still change while the study runs.

Started

Sep 2018

Expected to finish

Jun 2027

An estimate. End dates often move.

Lead sponsor

Other sponsor

The registry's catch-all category, for sponsors it does not file as a company, a government agency, or a research network.

Who can take part

This study's own entry requirements. Only the study team can say for certain whether you qualify.

Who is studied

The study population includes anyone diagnosed with biallelic pathogenic variants of TNNT1

Ages

Children (under 18), adults (18 to 64) and older adults (65 and over)

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: * Diagnosed with biallelic pathogenic variants of TNNT1 * Infantile-onset or childhood-onset proximal weakness without confounding medical conditions that could effect muscle health. Exclusion Criteria: * Another known or suspected medical condition (genetic or acquired) that could potentially alter the natural disease course or otherwise interfere with completion of study procedures.

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Conditions

The condition(s) this trial relates to.

autosomal recessive disease childhood-onset nemaline myopathy hereditary skeletal muscle disorder muscle tissue disorder myopathy nemaline myopathy nemaline myopathy 5

As listed by the trial registrant

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

Amish nemaline myopathy ANM Genetic muscle disease Infantile-onset nemaline rod myopathy Myopathies, nemaline Myopathy Myopathy, rod Myopathy; hereditary NEM5 Nemaline myopathy 5 Recessive hereditary disorder (autosomal) TNNT1-associated myopathy

How to take part

Only the study team decides who joins. These are the ways to reach them.

  1. The places running it

    1 site. The list below names each one and where it is.

  2. The official record

    ClinicalTrials.gov lists the study team's own contact details, including names and phone numbers. We don't republish those.

    Open the record ↗

  3. A doctor treating you

    A doctor who knows your case can contact a study site on your behalf, and can tell you whether this study is worth pursuing at all.

Contacts and locations

Locations

  • Clinic for Special Children

    RECRUITING

    Gordonville, Pennsylvania, 17529, United States

More trials for these conditions

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