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Gene hunt for rare muscle diseases could unlock future treatments

NCT ID NCT00272883

Knowledge-focused Sponsor: Boston Children's Hospital 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 Results may not be published yet.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This status has not been confirmed recently, so it may be out of date.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 25, 2026 · Last updated Jun 27, 2026 · Updated 2 times

Summary

This research study at Boston Children's Hospital is looking at the genes and proteins involved in congenital myopathies—rare muscle diseases that are present from birth. Researchers will analyze DNA from up to 4,000 participants, including patients and their family members, to find new disease-causing genes. The goal is to improve diagnosis and, eventually, develop better treatments for these conditions.

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 research could lead to better genetic tests and pave the way for future treatments for congenital myopathies.
What could go wrong
This is an observational study, not a treatment trial. It may take many years before findings translate into therapies, and not all genetic discoveries will lead to effective treatments.

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 4,000 people

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

Start date

Aug 2003

Expected to finish

Jan 2050

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

Individuals with a clinical or suspected diagnosis of a congenital myopathy and their family members.

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: * Individuals with a clinical or suspected diagnosis of a congenital myopathy and their family members Exclusion Criteria: * No specific exclusion criteria. Our studies do not include myotonia congenita or related conditions.

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Conditions

The condition(s) this trial relates to.

central core myopathy centronuclear myopathy congenital fiber-type disproportion myopathy congenital myopathy congenital structural myopathy Minicore Myopathy with External Ophthalmoplegia multiminicore myopathy nemaline myopathy rigid spine muscular dystrophy 1 RYR1-related myopathy SELENON-related myopathy Thomsen and Becker disease X-linked myotubular myopathy

As listed by the trial registrant

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

Central core disease Centronuclear myopathy Congenital fiber type disproportion Multiminicore disease Myotubular myopathy Nemaline myopathy Rigid spine muscular dystrophy Undefined congenital 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

  • Genetics Division, Boston Children's Hospital

    RECRUITING

    Boston, Massachusetts, 02115, United States

More trials for these conditions

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