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

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details. Identifier: NCT03810508
Recruitment Status : Recruiting
First Posted : January 18, 2019
Last Update Posted : December 11, 2020
Information provided by (Responsible Party):
Neurogene Inc.

Brief 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.

Condition or disease
Charcot-Marie-Tooth Disease Hereditary Motor and Sensory Neuropathy IV

Detailed Description:

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.

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Study Type : Observational
Estimated Enrollment : 30 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: A Natural History Study of Charcot-Marie-Tooth 4J (CMT4J)
Actual Study Start Date : July 18, 2019
Estimated Primary Completion Date : February 2024
Estimated Study Completion Date : August 2024

Primary Outcome Measures :
  1. Charcot Marie-Tooth Pediatric Scale (CMTPedS) [ Time Frame: Change is being assessed from baseline measures every 6 months for up to five years ]
    This an 11 item scale is used in patients younger than 18 yrs of age and generates a linear score of disability.

  2. Charcot-Marie-Tooth Neuropathy Score second version (CMTNSv2) [ Time Frame: Change is being assessed from baseline measures every 6 months for up to five years ]
    This is a 36 point scale that monitors disease impairment and progression with a higher score signifies increased disability.

  3. Charcot Marie-Tooth Functional Outcome Measure (CMT-FOM) [ Time Frame: Change is being assessed from baseline measures every 6 months for up to five years ]
    This is a performance-based outcome assessment which measures limitations in functional abilities in adults.

  4. CMT Health Index (CMTHI) [ Time Frame: Change is being assessed from baseline measures every 6 months for up to five years ]
    The CMTHI is a disease-specific, adult patient reported outcome measure designed to capture the disease burden of inherited neuropathies in the context of a clinical trial.

  5. Magnetic Resonance Imaging (MRI) of the calf muscles without contrast [ Time Frame: Change is being assessed from baseline measures every 6 months for up to five years ]
    MRI of bilateral thigh and calf muscles will be performed to characterize the pattern of muscle involvement and evaluate the muscle fat fraction (MFF).

  6. Nerve Conduction Study (NCS) [ Time Frame: Change is being assessed from baseline measures every 6 months for up to five years ]
    NCS is an electrophysiological test to evaluate the sensory and motor responses in the upper and lower extremities.

  7. Pulmonary Function Test, sitting and lying (PFT) [ Time Frame: Change is being assessed from baseline measures every 12 months for up to five years ]
    The purpose of the PFT is to identify the severity and progression of pulmonary impairment, and will be performed every 12 months.

Biospecimen Retention:   Samples With DNA
Patients will also have the opportunity to have biospecimens stored for up to 10 years for future exploratory analyses.

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Patients with a diagnosis of CMT4J based on clinical presentation and genetic testing (known or suspected pathogenic mutation in FIG4).
Subjects must have a prior confirmed molecular (genetic) diagnosis of CMT4J by clinical presentation and genetic testing.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT03810508

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Contact: Contact Center 877-237-5020

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United States, Iowa
University of Iowa Recruiting
Iowa City, Iowa, United States, 52242
Contact: Nicole Kressin    319-678-8596   
Principal Investigator: Michael Shy, MD         
United States, Texas
University of Texas Southwestern Recruiting
Dallas, Texas, United States, 75390
Contact: Holly Lawrence    214-456-2463   
Principal Investigator: Diana Castro, MD         
Sponsors and Collaborators
Neurogene Inc.
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Study Director: Elise Beausoleil Neurogene Inc.
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Responsible Party: Neurogene Inc. Identifier: NCT03810508    
Other Study ID Numbers: STU-2018-0018
First Posted: January 18, 2019    Key Record Dates
Last Update Posted: December 11, 2020
Last Verified: December 2020
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by Neurogene Inc.:
Additional relevant MeSH terms:
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Tooth Diseases
Charcot-Marie-Tooth Disease
Nerve Compression Syndromes
Hereditary Sensory and Motor Neuropathy
Refsum Disease
Stomatognathic Diseases
Nervous System Malformations
Nervous System Diseases
Heredodegenerative Disorders, Nervous System
Neurodegenerative Diseases
Peripheral Nervous System Diseases
Neuromuscular Diseases
Congenital Abnormalities
Genetic Diseases, Inborn
Brain Diseases, Metabolic, Inborn
Brain Diseases, Metabolic
Brain Diseases
Central Nervous System Diseases
Metabolism, Inborn Errors
Peroxisomal Disorders
Metabolic Diseases