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Researchers track rare nerve disease to unlock future treatments

NCT ID NCT06151600

Knowledge-focused Sponsor: Elpida Therapeutics SPC 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 Results may not be published yet.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This status has not been confirmed recently, so it may be out of date.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 Jul 09, 2026 · Updated 2 times

Summary

This study follows 20 people with a rare nerve disease called CMT4J for up to 2 years. Researchers will track symptoms and health changes to better understand how the disease progresses. The goal is to find better ways to measure the disease, which could help design future 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 20 people

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

Started

Jul 2024

Expected to finish

Mar 2032

An estimate. End dates often move.

Lead sponsor

A company

The lead sponsor is a pharmaceutical, biotech, or medical-device company.

Who can take part

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

Who is studied

Subjects with a genetically confirmed diagnosis of CMT4J will be included.

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: 1. Male or female, all ages 2. A molecularly-confirmed diagnosis of CMT4J (confirmed by a CLIA certified, CE-marked, or equivalent lab): Genomic DNA mutation analysis demonstrating 1) bi-allelic pathogenic and/or likely pathogenic variants (by ACMG criteria) in the FIG4 gene, or 2) bi-allelic variants with one pathogenic and/or likely pathogenic variant in trans with a variant of uncertain significance if laboratory evidence and expert consensus exits in support of loss of FIG4 function exists. 3. Informed consent from patients 18 years or older who are able to provide consent and from caregivers; parent(s)/guardian(s) providing consent for subjects younger than 18 years at Screening and patients older than 18 years unable to provide informed consent 4. Informed assent of patients younger than 18 years at Screening who are able to provide assent 5. Able and willing to comply with the study protocol, including travel to Study Center, procedures, measurements and visits Exclusion Criteria: 1. Any known genetic abnormality, including chromosomal aberrations that confound the clinical phenotype 2. Current participation in an interventional or therapeutic study 3. Receiving an investigational drug within 90 days of the Baseline Visit 4. Prior or current treatment with gene or stem cell therapy 5. Any other diseases which may significantly interfere with the assessment of CMT4J 6. Have any other conditions, which, in the opinion of the Investigator or Sponsor would make the subject unsuitable for inclusion or could interfere with the subject participating in or completing the study

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Conditions

The condition(s) this trial relates to.

Charcot-Marie-Tooth disease type 4J neurodegenerative disease neuromuscular disease peripheral nervous system disorder peripheral neuropathy

As listed by the trial registrant

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

Neuro-degenerative disease Neuromuscular diseases Peripheral neuropathy

Contacts and locations

Locations

  • Stanford University

    San Francisco, California, 94305, United States

  • University of Iowa

    Iowa City, Iowa, 52242, United States

  • University of Texas Southwestern

    Dallas, Texas, 75390, United States

More trials for these conditions

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