A Natural History Study of Charcot-Marie-Tooth 4J (CMT4J) (CMT4J)
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|ClinicalTrials.gov Identifier: NCT03810508|
Recruitment Status : Terminated (Discontinued CMT4J development program)
First Posted : January 18, 2019
Last Update Posted : March 31, 2022
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|
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.
|Study Type :||Observational|
|Actual Enrollment :||21 participants|
|Official Title:||A Natural History Study of Charcot-Marie-Tooth 4J (CMT4J)|
|Actual Study Start Date :||July 18, 2019|
|Actual Primary Completion Date :||February 15, 2022|
|Actual Study Completion Date :||February 15, 2022|
- 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.
- 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.
- 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.
- 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.
- 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).
- 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.
- 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
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
|United States, Iowa|
|University of Iowa|
|Iowa City, Iowa, United States, 52242|
|United States, Texas|
|University of Texas Southwestern|
|Dallas, Texas, United States, 75390|
|Study Director:||Elise Beausoleil||Neurogene Inc.|