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

Centronuclear Myopathy Clinical Trial

— NatHis-CNM  

Official title:

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

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT03351270
• Other study ID #: NatHis-CNM
• Status: Completed
• Phase: N/A
• Start date: May 28, 2017
• Est. completion date: September 30, 2021

Study information

• Verified date: March 2023
• Source: Institut de Myologie, France
• Contact: n/a
• Is FDA regulated: No
• Study type: Interventional

Clinical Trial 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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 60
• Est. completion date: September 30, 2021
• Est. primary completion date: September 30, 2021
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A and older

Eligibility

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

Related Conditions & MeSH terms

• Centronuclear Myopathy
• Muscular Diseases

Intervention

Other:
• Standardized strength, respiratory and motor function assessments
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.

Locations

Country	Name	City	State
Belgium	Centre de référence neuromusculaire, CHR La Citadelle	Liège
France	Hôpital Femme Mère Enfant, CHU Lyon L'Escale	Bron
France	Hôpital Roger Salengro, CHU Lille	Lille
France	Hôpital de la Croix Rousse	Lyon
France	Hôpital Armand Trousseau	Paris
France	I-Motion Institute - Trousseau Hospital	Paris
France	Institute of Myology	Paris
France	Hôpital Sainte Musse	Toulon
Germany	Universitätsklinikum Essen (AöR)	Essen
Italy	Bambino Gesu Children's Hospital	Roma
Spain	Hospital Puerta del Mar	Cadiz

Sponsors (2)

Lead Sponsor	Collaborator
Institut de Myologie, France	Dynacure

Countries where clinical trial is conducted

Belgium,  France,  Germany,  Italy,  Spain, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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.	Baseline, 6 months, 12 months and every year up to 60 months
Primary	CHOP-INTEND score change from baseline	Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders	Baseline, 6 months, 12 months and every year up to 60 months
Primary	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	Baseline, 6 months, 12 months and every year up to 60 months
Primary	Moviplate score change from baseline	Moviplate score	Baseline, 6 months, 12 months and every year up to 60 months
Primary	6MWD change from baseline	6 Minute Walking Distance	Baseline, 6 months, 12 months and every year up to 60 months
Primary	Grip strength change from baseline	MyoGrip	Baseline, 6 months, 12 months and every year up to 60 months
Primary	Pinch strength change from baseline	MyoPinch	Baseline, 6 months, 12 months and every year up to 60 months
Primary	Forced Vital Capacity change from baseline		Baseline, 6 months, 12 months and every year up to 60 months
Primary	Peak Cough Flow change from baseline		Baseline, 6 months, 12 months and every year up to 60 months
Primary	Maximum Inspiratory Pressure change from baseline		Baseline, 6 months, 12 months and every year up to 60 months
Primary	Maximum Expiratory Pressure change from baseline		Baseline, 6 months, 12 months and every year up to 60 months