Clinical trial NCT03351270: Prospective Natural History Study of Patients With Myotubular Myopathy and Other CentroNuclear Myopathies
Official title: Prospective, Longitudinal Study of the Natural History and Functional Status of Patients With Myotubular Myopathy and Other CentroNuclear Myopathies
Study type: INTERVENTIONAL
Overall status: COMPLETED
Phase: NA
Conditions: Centronuclear Myopathy
Keywords: CNM
XLMTM
Myotubular myopathy
Lead sponsor: Institut de Myologie, France
Sponsor class: OTHER
Collaborators: name: Dynacure
First posted: 2017-11-22
Enrollment: 60
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Allocation: NA
Intervention model: SINGLE_GROUP
Primary purpose: OTHER

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.


Eligibility criteria: 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

Primary outcomes:
measure: MFM score change from baseline
timeFrame: Baseline, 6 months, 12 months and every year up to 60 months
measure: CHOP-INTEND score change from baseline
timeFrame: Baseline, 6 months, 12 months and every year up to 60 months
measure: Modified Hammersmith score change from baseline
timeFrame: Baseline, 6 months, 12 months and every year up to 60 months
measure: Moviplate score change from baseline
timeFrame: Baseline, 6 months, 12 months and every year up to 60 months
measure: 6MWD change from baseline
timeFrame: Baseline, 6 months, 12 months and every year up to 60 months
measure: Grip strength change from baseline
timeFrame: Baseline, 6 months, 12 months and every year up to 60 months
measure: Pinch strength change from baseline
timeFrame: Baseline, 6 months, 12 months and every year up to 60 months
measure: Forced Vital Capacity change from baseline
timeFrame: Baseline, 6 months, 12 months and every year up to 60 months
measure: Peak Cough Flow change from baseline
timeFrame: Baseline, 6 months, 12 months and every year up to 60 months
measure: Maximum Inspiratory Pressure change from baseline
timeFrame: Baseline, 6 months, 12 months and every year up to 60 months
measure: Maximum Expiratory Pressure change from baseline
timeFrame: Baseline, 6 months, 12 months and every year up to 60 months
Secondary outcomes:
Other outcomes:
Locations:
city: Liège
country: Belgium
facility: Centre de référence neuromusculaire, CHR La Citadelle
city: Bron
country: France
facility: Hôpital Femme Mère Enfant, CHU Lyon L'Escale
city: Lille
country: France
facility: Hôpital Roger Salengro, CHU Lille
city: Lyon
country: France
facility: Hôpital de la Croix Rousse
city: Paris
country: France
facility: Hôpital Armand Trousseau
city: Paris
country: France
facility: I-Motion Institute - Trousseau Hospital
city: Paris
country: France
facility: Institute of Myology
city: Toulon
country: France
facility: Hôpital Sainte Musse
city: Essen
country: Germany
facility: Universitätsklinikum Essen (AöR)
city: Roma
country: Italy
facility: Bambino Gesu Children's Hospital
city: Cadiz
country: Spain
facility: Hospital Puerta del Mar
Study officials:
affiliation: Centre de référence neuromusculaire, CHR La Citadelle; 4000 Liege Belgium
name: Laurent Servais, MD
role: PRINCIPAL_INVESTIGATOR
References: