TerminatedNot Applicable

A Natural History Study of Charcot-Marie-Tooth 4J (CMT4J)

Stopped: Discontinued CMT4J development program

United States21 participantsStarted 2019-07-18

Plain-language summary

Charcot-Marie-Tooth 4J (CMT4J) is a rare inherited peripheral neuropathy often characterized by rapidly progressive, asymmetrical upper and lower extremity weakness, muscle atrophy leading to loss of ambulation, respiratory compromise and premature death with no available treatment. The purpose of this study is to investigate the clinical characteristics and natural clinical progression of symptoms in individuals with CMT4J. This natural history study is important to better understand disease course to be able to determine clinically meaningful outcome measures for use in future clinical trials.

Who can participate

Sex

ALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

Subjects must have a prior confirmed molecular (genetic) diagnosis of CMT4J by clinical presentation and genetic testing.

Questions worth asking your doctor

Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.

1Based on my diagnosis and history, is this trial worth exploring for me — or is there a standard treatment we should try first?
2What does this trial's phase tell us about how much is already known about its safety and benefit?
3What would taking part actually involve for me — visits, tests, time, and travel?
4What are the known and possible risks or side effects I should weigh, and how would they be monitored?
5If this trial isn't the right fit, what other options or trials would you suggest I look into?

Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.

Questions for the trial coordinator

The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.

1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?

A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.

What they're measuring

Charcot Marie-Tooth Pediatric Scale (CMTPedS)

Timeframe: Change is being assessed from baseline measures every 6 months for up to five years

Charcot-Marie-Tooth Neuropathy Score second version (CMTNSv2)

Timeframe: Change is being assessed from baseline measures every 6 months for up to five years

Charcot Marie-Tooth Functional Outcome Measure (CMT-FOM)

Timeframe: Change is being assessed from baseline measures every 6 months for up to five years

CMT Health Index (CMTHI)

Timeframe: Change is being assessed from baseline measures every 6 months for up to five years

Magnetic Resonance Imaging (MRI) of the calf muscles without contrast

Timeframe: Change is being assessed from baseline measures every 6 months for up to five years

Nerve Conduction Study (NCS)

Timeframe: Change is being assessed from baseline measures every 6 months for up to five years

Trial details

NCT IDNCT03810508

SponsorNeurogene Inc.

Sponsor typeINDUSTRY

Study typeOBSERVATIONAL

Primary completion2022-02-15

View on ClinicalTrials.gov More Charcot-Marie-Tooth Disease trials

Plain-language summary

What they're measuring

Charcot Marie-Tooth Pediatric Scale (CMTPedS)

Timeframe: Change is being assessed from baseline measures every 6 months for up to five years

Charcot-Marie-Tooth Neuropathy Score second version (CMTNSv2)

Timeframe: Change is being assessed from baseline measures every 6 months for up to five years

Charcot Marie-Tooth Functional Outcome Measure (CMT-FOM)

Timeframe: Change is being assessed from baseline measures every 6 months for up to five years

CMT Health Index (CMTHI)

Timeframe: Change is being assessed from baseline measures every 6 months for up to five years

Magnetic Resonance Imaging (MRI) of the calf muscles without contrast

Timeframe: Change is being assessed from baseline measures every 6 months for up to five years

Nerve Conduction Study (NCS)

Timeframe: Change is being assessed from baseline measures every 6 months for up to five years