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Prospective Natural History Study of Patients With Myotubular Myopathy and Other CentroNuclear Myopathies (NatHis-CNM)

Primary Purpose

Centronuclear Myopathy

Status

Completed

Phase

Not Applicable

Locations

International

Study Type

Interventional

Intervention

Standardized strength, respiratory and motor function assessments

About this trial

This is an interventional other trial for Centronuclear Myopathy focused on measuring CNM, XLMTM, Myotubular myopathy

Eligibility Criteria

undefined - undefined (Child, Adult, Older Adult)All SexesDoes not accept healthy volunteers

Inclusion Criteria:

Patients of any age (newborns included) may participate
Patients over 18 years of age and parent(s)/legal guardian(s) of patients < 18 years of age must be provide written informed consent prior to participating in the study and informed assent will be obtained from minors at least 7 years of age when required by regulation.
Myotubular Centronuclear myopathy (MTMCNM) resulting from a mutation in the MTM1, DNM2 or BIN1 gene
Male or symptomatic female. A symptomatic female will be defined by the motor function assessment by Motor Function Measure (MFM) or North Star Ambulatory Assessment (NSAA) below 80% of the total score.
Willing and able to comply with all protocol requirements and procedures.
In France only: Affiliated to or a beneficiary of a social security category

Exclusion Criteria:

Other disease which may significantly interfere with the assessment of the MTM CNM and is clearly not related to the disease
Currently enrolled in a treatment study; or treatment with an experimental therapy other than pyridostigmine
For women: pregnancy or current breastfeeding

Outcomes

Primary Outcome Measures

MFM score change from baseline

Motor Function Measure scale. The total test score can range from 0 if the subject cannot perform any of the items to 100 if all the items are fully achieved.

CHOP-INTEND score change from baseline

Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders

Modified Hammersmith score change from baseline

Modified Hammersmith Functional Motor Scale. The total test score can range from 0 if the subject cannot perform any of the items to 40 if all the items are fully achieved

Moviplate score change from baseline

Moviplate score

6MWD change from baseline

6 Minute Walking Distance

Grip strength change from baseline

MyoGrip

Pinch strength change from baseline

MyoPinch

Forced Vital Capacity change from baseline

Peak Cough Flow change from baseline

Maximum Inspiratory Pressure change from baseline

Maximum Expiratory Pressure change from baseline

Secondary Outcome Measures

Full Information

NCT ID

NCT03351270

First Posted

November 14, 2017

Last Updated

March 1, 2023

Sponsor

Institut de Myologie, France

Collaborators

Dynacure

1. Study Identification

Unique Protocol Identification Number

NCT03351270

Brief Title

Prospective Natural History Study of Patients With Myotubular Myopathy and Other CentroNuclear Myopathies

Acronym

NatHis-CNM

Official Title

Prospective, Longitudinal Study of the Natural History and Functional Status of Patients With Myotubular Myopathy and Other CentroNuclear Myopathies

Study Type

Interventional

2. Study Status

Record Verification Date

March 2023

Overall Recruitment Status

Completed

Study Start Date

May 28, 2017 (Actual)

Primary Completion Date

September 30, 2021 (Actual)

Study Completion Date

September 30, 2021 (Actual)

3. Sponsor/Collaborators

Responsible Party, by Official Title

Sponsor

Name of the Sponsor

Institut de Myologie, France

Collaborators

Dynacure

4. Oversight

Studies a U.S. FDA-regulated Drug Product

Studies a U.S. FDA-regulated Device Product

Data Monitoring Committee

5. Study Description

Brief Summary

This is the 2 years extension of the prospective and longitudinal study of the natural history and functional status of patients with myotubular myopathy and other centronuclear (CNM) sponsored by Dynacure including ten additional pediatric patients with mutation in MTM1 or DNM2 genes). the patients are planned to be enrolled in one year leading to an expected total number of 70 patients followed at least over 1 year period. Data from the study will be used to characterize the disease course of CNM and determine which outcome measures will be the best to assess the efficacy of potential therapies.

6. Conditions and Keywords

Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study

Centronuclear Myopathy

Keywords

CNM, XLMTM, Myotubular myopathy

7. Study Design

Primary Purpose

Other

Study Phase

Not Applicable

Interventional Study Model

Single Group Assignment

Masking

None (Open Label)

Allocation

N/A

Enrollment

60 (Actual)

8. Arms, Groups, and Interventions

Intervention Type

Other

Intervention Name(s)

Standardized strength, respiratory and motor function assessments

Intervention Description

Standardized assessments will be adjusted by the age, the ambulant status and the respiratory status of the patient. The visit frequency will also be adjusted according to the age and to the time spent in the study varying between quarterly to yearly.

Primary Outcome Measure Information:

Title

MFM score change from baseline

Description

Motor Function Measure scale. The total test score can range from 0 if the subject cannot perform any of the items to 100 if all the items are fully achieved.

Time Frame