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

NCT ID: NCT03810508

Last Updated: 2022-03-31

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

TERMINATED

Total Enrollment

21 participants

Study Classification

OBSERVATIONAL

Study Start Date

2019-07-18

Study Completion Date

2022-02-15

Brief Summary

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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.

Detailed Description

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Charcot-Marie-Tooth (CMT) diseases are the most common inherited motor and sensory neuropathies, composed of a group of pathologically and genetically distinct subtypes ranging from slowly to rapidly progressive disease.

CMT4J is a rare subtype of CMT caused by mutations in the FIG4 gene. Pediatric-onset disease can often be characterized by rapid progression of muscle weakness and atrophy, culminating in loss of ambulation and respiratory compromise and premature death. Adult-onset CMT4J can present with a more variable disease course.

No prospective natural history study for CMT4J has been reported. This study aims to prospectively investigate the natural history of CMT4J, and concurrently to identify potential outcome measures that could be used in future clinical trials. No investigational product will be provided in the study.

Conditions

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Charcot-Marie-Tooth Disease Hereditary Motor and Sensory Neuropathy IV

Study Design

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Observational Model Type

COHORT

Study Time Perspective

PROSPECTIVE

Eligibility Criteria

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Inclusion Criteria

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

ALL

Accepts Healthy Volunteers

No

Sponsors

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Neurogene Inc.

INDUSTRY

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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Elise Beausoleil

Role: STUDY_DIRECTOR

Neurogene Inc.

Locations

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University of Iowa

Iowa City, Iowa, United States

Site Status

University of Texas Southwestern

Dallas, Texas, United States

Site Status

Countries

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United States

Other Identifiers

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CMT4J-100

Identifier Type: -

Identifier Source: org_study_id

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