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

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ClinicalTrials.gov Identifier: NCT03810508
Recruitment Status : Recruiting
First Posted : January 18, 2019
Last Update Posted : July 30, 2019
Sponsor:
Information provided by (Responsible Party):
Neurogene, Inc.

Tracking Information
First Submitted Date January 17, 2019
First Posted Date January 18, 2019
Last Update Posted Date July 30, 2019
Actual Study Start Date July 18, 2019
Estimated Primary Completion Date February 2024   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures
 (submitted: January 29, 2019)
  • 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.
  • 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 ]
    An MRI scan of the calf muscle will be performed to characterize the pattern of muscle involvement and evaluate the muscle fat fraction.
  • 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.
Original Primary Outcome Measures
 (submitted: January 17, 2019)
  • Charcot Marie-Tooth Pediatric Scale (CMTPedS) [ Time Frame: Five years ]
    This 11 item scale, developed by the Inherited Neuropathies Consortium, underwent validation testing in patients aged 3-20 years with CMT and generates a linear score of disability
  • Charcot-Marie-Tooth Neuropathy Score second version (CMTNSv2) [ Time Frame: Five years ]
    This is a composite measure to monitor disease impairment and progression in affected CMT patients. It is based on a 36 point scale, with 9 items each worth up to 4 points. A higher score signifies increased disability.
  • Charcot Marie-Tooth Functional Outcome Measure (CMT-FOM) [ Time Frame: Five years ]
    This is a performance-based outcome assessment which measures limitations in functional abilities in adults with CMT1A. It was based on the validated CMTPedS and further developed using review of the literature, patient interviews and a survey of 407 adults with CMT, and expert opinion, all supporting the content validity This scale will be used for patients older than 18 years of age.
  • CMT Health Index (CMTHI) [ Time Frame: Five years ]
    The CMTHI is a disease-specific, patient reported outcome measure designed to capture the disease burden of inherited neuropathies, in the context of a clinical trial. This scale will be used for patients older than 18 years of age.
Change History Complete list of historical versions of study NCT03810508 on ClinicalTrials.gov Archive Site
Current Secondary Outcome Measures Not Provided
Original Secondary Outcome Measures Not Provided
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
 
Descriptive Information
Brief Title A Natural History Study of Charcot-Marie-Tooth 4J (CMT4J)
Official Title A Natural History Study of Charcot-Marie-Tooth 4J (CMT4J)
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.

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.

Study Type Observational
Study Design Observational Model: Cohort
Time Perspective: Prospective
Target Follow-Up Duration Not Provided
Biospecimen Retention:   None Retained
Description:
Patients will also have the opportunity to have serum samples stored for up to 10 years for future exploratory analyses.
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).
Condition
  • Charcot-Marie-Tooth Disease
  • Hereditary Motor and Sensory Neuropathy IV
Intervention Not Provided
Study Groups/Cohorts Not Provided
Publications * Not Provided

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruitment Information
Recruitment Status Recruiting
Estimated Enrollment
 (submitted: January 17, 2019)
20
Original Estimated Enrollment Same as current
Estimated Study Completion Date August 2024
Estimated Primary Completion Date February 2024   (Final data collection date for primary outcome measure)
Eligibility 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.
Sex/Gender
Sexes Eligible for Study: All
Ages Child, Adult, Older Adult
Accepts Healthy Volunteers No
Contacts
Contact: Call Center 877-237-5020 medicalinfo@neurogene.com
Listed Location Countries United States
Removed Location Countries  
 
Administrative Information
NCT Number NCT03810508
Other Study ID Numbers STU-2018-0018
Has Data Monitoring Committee No
U.S. FDA-regulated Product
Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
IPD Sharing Statement
Plan to Share IPD: No
Responsible Party Neurogene, Inc.
Study Sponsor Neurogene, Inc.
Collaborators Not Provided
Investigators
Principal Investigator: Diana Castro, MD UT- Southwestern
PRS Account Neurogene, Inc.
Verification Date July 2019