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

NCT03351270 | Completed

• 1 other identifier: NatHis-CNM
• Study Type: interventional
• Target: 60
• Locations: 5 countries
• Sites: 11

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.

Conditions

Centronuclear Myopathy

Keywords

CNM; XLMTM; Myotubular myopathy

Outcome Measures

Primary Outcomes (11)

• 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

• 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

• 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

• Moviplate score change from baseline

  Moviplate score

  Baseline, 6 months, 12 months and every year up to 60 months

• 6MWD change from baseline

  6 Minute Walking Distance

  Baseline, 6 months, 12 months and every year up to 60 months

• Grip strength change from baseline

  MyoGrip

  Baseline, 6 months, 12 months and every year up to 60 months

• Pinch strength change from baseline

  MyoPinch

  Baseline, 6 months, 12 months and every year up to 60 months

• Forced Vital Capacity change from baseline

  Baseline, 6 months, 12 months and every year up to 60 months

• Peak Cough Flow change from baseline

  Baseline, 6 months, 12 months and every year up to 60 months

• Maximum Inspiratory Pressure change from baseline

  Baseline, 6 months, 12 months and every year up to 60 months

• Maximum Expiratory Pressure change from baseline

  Baseline, 6 months, 12 months and every year up to 60 months

Interventions

Standardized strength, respiratory and motor function assessments OTHER

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.

Eligibility Criteria

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

You may qualify if:

• 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

You may not qualify if:

• 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

Sponsors & Collaborators

• Institut de Myologie, France: lead
• Dynacure: collaborator

Study Sites (11)

Centre de référence neuromusculaire, CHR La Citadelle

Liège, 4000, Belgium

Location

Hôpital Femme Mère Enfant, CHU Lyon L'Escale

Bron, 69500, France

Location

Hôpital Roger Salengro, CHU Lille

Lille, 59000, France

Location

Hôpital de la Croix Rousse

Lyon, 69004, France

Location

Hôpital Armand Trousseau

Paris, 75012, France

Location

I-Motion Institute - Trousseau Hospital

Paris, 75012, France

Location

Institute of Myology

Paris, 75013, France

Location

Hôpital Sainte Musse

Toulon, 83056, France

Location

Universitätsklinikum Essen (AöR)

Essen, D-45147, Germany

Location

Bambino Gesu Children's Hospital

Roma, 00146, Italy

Location

Hospital Puerta del Mar

Cadiz, 21-11009, Spain

Location

MeSH Terms

Conditions

Myopathies, Structural, Congenital

Interventions

Respiratory Rate

Condition Hierarchy (Ancestors)

Muscular Diseases; Musculoskeletal Diseases; Neuromuscular Diseases; Nervous System Diseases

Intervention Hierarchy (Ancestors)

Vital Signs; Physical Examination; Diagnostic Techniques and Procedures; Diagnosis; Respiration; Respiratory Physiological Phenomena; Circulatory and Respiratory Physiological Phenomena

Study Officials

• Laurent Servais, MD

  Centre de référence neuromusculaire, CHR La Citadelle; 4000 Liege Belgium

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Purpose: OTHER
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: November 14, 2017
• First Posted: November 22, 2017
• Study Start: May 28, 2017
• Primary Completion: September 30, 2021
• Study Completion: September 30, 2021
• Last Updated: March 2, 2023

Record last verified: 2023-03

Locations

BE (1); FR (7); IT (1); DE (1); ES (1)