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

NCT03810508 | Terminated

• 1 other identifier: CMT4J-100
• Study Type: observational
• Target: 21
• Locations: 1 country
• Sites: 2

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.

Conditions

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

Keywords

CMT4J

Outcome Measures

Primary Outcomes (7)

• Charcot Marie-Tooth Pediatric Scale (CMTPedS)

  This an 11 item scale is used in patients younger than 18 yrs of age and generates a linear score of disability.

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

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

  This is a 36 point scale that monitors disease impairment and progression with a higher score signifies increased disability.

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

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

  This is a performance-based outcome assessment which measures limitations in functional abilities in adults.

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

• CMT Health Index (CMTHI)

  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.

  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

  MRI of bilateral thigh and calf muscles will be performed to characterize the pattern of muscle involvement and evaluate the muscle fat fraction (MFF).

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

• Nerve Conduction Study (NCS)

  NCS is an electrophysiological test to evaluate the sensory and motor responses in the upper and lower extremities.

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

• Pulmonary Function Test, sitting and lying (PFT)

  The purpose of the PFT is to identify the severity and progression of pulmonary impairment, and will be performed every 12 months.

  Change is being assessed from baseline measures every 12 months for up to five years

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• 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.

Contact the study team to discuss eligibility requirements. They can help determine if this study is right for you.

Sponsors & Collaborators

• Neurogene Inc.: lead

Study Sites (2)

University of Iowa

Iowa City, Iowa, 52242, United States

Location

University of Texas Southwestern

Dallas, Texas, 75390, United States

Location

Biospecimen

Retention: SAMPLES WITH DNA

Patients will also have the opportunity to have biospecimens stored for up to 10 years for future exploratory analyses.

MeSH Terms

Conditions

Charcot-Marie-Tooth Disease; Refsum Disease

Condition Hierarchy (Ancestors)

Hereditary Sensory and Motor Neuropathy; Nervous System Malformations; Nervous System Diseases; Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Polyneuropathies; Peripheral Nervous System Diseases; Neuromuscular Diseases; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Genetic Diseases, Inborn; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Metabolism, Inborn Errors; Peroxisomal Disorders; Metabolic Diseases; Nutritional and Metabolic Diseases

Study Officials

• Elise Beausoleil

  Neurogene Inc.

  STUDY DIRECTOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: January 17, 2019
• First Posted: January 18, 2019
• Study Start: July 18, 2019
• Primary Completion: February 15, 2022
• Study Completion: February 15, 2022
• Last Updated: March 31, 2022

Record last verified: 2022-03

Data Sharing

• IPD Sharing: Will not share

Locations

US (2)