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Cure My Disease

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Can a global patient registry unlock the secrets of a rare muscle disease?

NCT ID NCT04009226

Knowledge-focused Sponsor: Newcastle University 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
Running, but no longer taking on new participants.
Completed This study
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 Results may not be published yet.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This status has not been confirmed recently, so it may be out of date.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 Aug 17, 2026 · Last updated Aug 18, 2026 · Updated 1 time

Summary

This study is building an international registry of people with GNE myopathy, an ultra-rare muscle disease that causes progressive weakness and often leads to wheelchair use. Participants will complete online questionnaires about their symptoms, medical history, quality of life, and physical activity. The goal is to better understand how the disease progresses over time and to support future research and clinical trials.

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
This registry could help researchers understand how GNE myopathy progresses over time, which may support future clinical trials and care.
What could go wrong
As a registry, it does not test a treatment. Data relies on patient self-reports, which may be incomplete or biased.

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 430 people

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

Started

Mar 2014

Finished

Dec 2021

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

Must have a diagnosis of GNE myopathy (also known as HIBM, Quadriceps Sparing Myopathy (QSM), Inclusion Body Myopathy Type 2, distal myopathy with rimmed vacuoles (DMRV), or Nonaka disease)

Ages

18 years and older

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 years or older at the time of informed consent * Clinical and/or genetic diagnosis of GNE myopathy (also known as HIBM, QSM, Inclusion Body Myopathy Type 2, DMRV, or Nonaka disease) * Willing and able to provided electronic (or written) consent and comply with all study requirements. Exclusion Criteria: * Under 18 years of age

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Conditions

The condition(s) this trial relates to.

Distal Myopathies Distal myopathy, Nonaka type GNE myopathy hereditary inclusion-body myopathy muscular dystrophy neuromuscular disease

As listed by the trial registrant

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

Gne myopathy Hereditary inclusion body myopathy

Contacts and locations

Locations

  • John Walton Muscular Dystrophy Research Centre

    Newcastle upon Tyne, NE1 3BZ, United Kingdom

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