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Trial record 4 of 329 for:    CMT

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

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ClinicalTrials.gov Identifier: NCT03810508
Recruitment Status : Not yet recruiting
First Posted : January 18, 2019
Last Update Posted : July 11, 2019
Sponsor:
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 : 20 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: A Natural History Study of Charcot-Marie-Tooth 4J (CMT4J)
Estimated Study Start Date : July 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 3-20 years 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 ]
    An MRI scan of the calf muscle will be performed to characterize the pattern of muscle involvement and evaluate the muscle fat fraction.

  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:   None Retained
Patients will also have the opportunity to have serum samples stored for up to 10 years for future exploratory analyses.


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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).
Criteria

Inclusion Criteria:

  • Participants must have a diagnosis of CMT4J based on clinical presentation and genetic testing (known or suspected pathogenic mutation in FIG4 gene).

Exclusion Criteria:

  • Patients unable to travel to UT Southwestern Medical Center and Children's Health Dallas will not be enrolled in the prospective natural history study collecting standardized clinical data; however, with participant consent, medical records will be obtained, reviewed, and recorded in the natural history database over time.

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 ClinicalTrials.gov identifier (NCT number): NCT03810508


Contacts
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Contact: Call Center 877-237-5020 medicalinfo@neurogene.com

Sponsors and Collaborators
Neurogene, Inc.
Investigators
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Principal Investigator: Diana Castro, MD UT- Southwestern

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Responsible Party: Neurogene, Inc.
ClinicalTrials.gov Identifier: NCT03810508     History of Changes
Other Study ID Numbers: STU-2018-0018
First Posted: January 18, 2019    Key Record Dates
Last Update Posted: July 11, 2019
Last Verified: July 2019
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.:
CMT4J

Additional relevant MeSH terms:
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Charcot-Marie-Tooth Disease
Nerve Compression Syndromes
Hereditary Sensory and Motor Neuropathy
Tooth Diseases
Refsum Disease
Stomatognathic Diseases
Nervous System Malformations
Nervous System Diseases
Heredodegenerative Disorders, Nervous System
Neurodegenerative Diseases
Polyneuropathies
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