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

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ClinicalTrials.gov Identifier: NCT03351270
Recruitment Status : Recruiting
First Posted : November 22, 2017
Last Update Posted : November 25, 2020
Sponsor:
Collaborator:
Dynacure
Information provided by (Responsible Party):
Institut de Myologie, France

Study Description
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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.

Condition or disease Intervention/treatment Phase
Centronuclear Myopathy Other: Standardized strength, respiratory and motor function assessments Not Applicable

Study Design
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Study Type : Interventional  (Clinical Trial)
Estimated Enrollment : 70 participants
Allocation: N/A
Intervention Model: Single Group Assignment
Masking: None (Open Label)
Primary Purpose: Other
Official Title: Prospective, Longitudinal Study of the Natural History and Functional Status of Patients With Myotubular Myopathy and Other CentroNuclear Myopathies
Actual Study Start Date : May 28, 2017
Estimated Primary Completion Date : September 30, 2022
Estimated Study Completion Date : September 30, 2022

Resource links provided by the National Library of Medicine

MedlinePlus related topics: Muscle Disorders

Arms and Interventions
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Intervention Details:
  • 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.

Outcome Measures
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Primary Outcome Measures :
  1. MFM score change from baseline [ Time Frame: Baseline, 6 months, 12 months and every year up to 60 months ]
    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.

  2. CHOP-INTEND score change from baseline [ Time Frame: Baseline, 6 months, 12 months and every year up to 60 months ]
    Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders

  3. Modified Hammersmith score change from baseline [ Time Frame: Baseline, 6 months, 12 months and every year up to 60 months ]
    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

  4. Moviplate score change from baseline [ Time Frame: Baseline, 6 months, 12 months and every year up to 60 months ]
    Moviplate score

  5. 6MWD change from baseline [ Time Frame: Baseline, 6 months, 12 months and every year up to 60 months ]
    6 Minute Walking Distance

  6. Grip strength change from baseline [ Time Frame: Baseline, 6 months, 12 months and every year up to 60 months ]
    MyoGrip

  7. Pinch strength change from baseline [ Time Frame: Baseline, 6 months, 12 months and every year up to 60 months ]
    MyoPinch

  8. Forced Vital Capacity change from baseline [ Time Frame: Baseline, 6 months, 12 months and every year up to 60 months ]
  9. Peak Cough Flow change from baseline [ Time Frame: Baseline, 6 months, 12 months and every year up to 60 months ]
  10. Maximum Inspiratory Pressure change from baseline [ Time Frame: Baseline, 6 months, 12 months and every year up to 60 months ]
  11. Maximum Expiratory Pressure change from baseline [ Time Frame: Baseline, 6 months, 12 months and every year up to 60 months ]

Eligibility Criteria
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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
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
Contacts and Locations
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Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03351270


Contacts
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Contact: Emmanuelle Lagrue, MD +33 1 44 73 65 44 e.lagrue@institut-myologie.org

Locations
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Belgium
Centre de référence neuromusculaire, CHR La Citadelle Recruiting
Liège, Belgium, 4000
Contact: Laurent Servais, MD       Secretariat.crmn@chrcitadelle.belle.be   
France
Hôpital Femme Mère Enfant, CHU Lyon L'Escale Recruiting
Bron, France, 69500
Contact: Carole Vuillerot, MD       carole.vuillerot@chu-lyon.fr   
Hôpital Roger Salengro, CHU Lille Recruiting
Lille, France, 59000
Contact: Jean-Baptiste Davion, MD       Jeanbaptiste.DAVION@CHRU-LILLE.FR   
Hôpital de la Croix Rousse Recruiting
Lyon, France, 69004
Contact: Carole Vuillerot, MD       carole.vuillerot@chu-lyon.fr   
Hôpital Armand Trousseau Recruiting
Paris, France, 75012
Contact: Arnaud Isapof, MD       arnaud.isapof@aphp.fr   
I-Motion Institute - Trousseau Hospital Recruiting
Paris, France, 75012
Contact: Dominique Duchene       d.duchene@institut-myologie.org   
Contact: Virginie Chê       v.che@institut-myologie.org   
Principal Investigator: Andreea Seferian, MD         
Institute of Myology Recruiting
Paris, France, 75013
Contact: Dominique Duchene       d.duchene@institut-myologie.org   
Contact: Virginie Chê       v.che@institut-myologie.org   
Hôpital Sainte Musse Recruiting
Toulon, France, 83056
Contact: Jean-Michel Arnal, MD       Jean-Michel.Arnal@ch-toulon.fr   
Germany
Universitätsklinikum Essen (AöR) Recruiting
Essen, Germany, D-45147
Contact: Ulrike Schara, MD       ulrike.schara@uk-essen.de   
Italy
Bambino Gesu Children's Hospital Recruiting
Roma, Italy, 00146
Contact: Adele D'Amico, MD       adele2.damico@opbg.net   
Spain
Hospital Puerta del Mar Recruiting
Cadiz, Spain, 21-11009
Contact: Arturo Hernandez       artucadiz@ono.com   
Sponsors and Collaborators
Institut de Myologie, France
Dynacure
Investigators
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Principal Investigator: Laurent Servais, MD Centre de référence neuromusculaire, CHR La Citadelle; 4000 Liege Belgium
More Information
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Responsible Party: Institut de Myologie, France
ClinicalTrials.gov Identifier: NCT03351270    
Other Study ID Numbers: NatHis-CNM
First Posted: November 22, 2017    Key Record Dates
Last Update Posted: November 25, 2020
Last Verified: November 2020

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by Institut de Myologie, France:
CNM
XLMTM
Myotubular myopathy
Additional relevant MeSH terms:
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Muscular Diseases
Myopathies, Structural, Congenital
Musculoskeletal Diseases
Neuromuscular Diseases
Nervous System Diseases