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

- 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.
- 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.
- 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
- 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
- Moviplate score change from baseline [ Time Frame: Baseline, 6 months, 12 months and every year up to 60 months ]Moviplate score
- 6MWD change from baseline [ Time Frame: Baseline, 6 months, 12 months and every year up to 60 months ]6 Minute Walking Distance
- Grip strength change from baseline [ Time Frame: Baseline, 6 months, 12 months and every year up to 60 months ]MyoGrip
- Pinch strength change from baseline [ Time Frame: Baseline, 6 months, 12 months and every year up to 60 months ]MyoPinch
- Forced Vital Capacity change from baseline [ Time Frame: Baseline, 6 months, 12 months and every year up to 60 months ]
- Peak Cough Flow change from baseline [ Time Frame: Baseline, 6 months, 12 months and every year up to 60 months ]
- Maximum Inspiratory Pressure change from baseline [ Time Frame: Baseline, 6 months, 12 months and every year up to 60 months ]
- Maximum Expiratory Pressure change from baseline [ Time Frame: Baseline, 6 months, 12 months and every year up to 60 months ]

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Ages Eligible for Study: | Child, Adult, Older Adult |
Sexes Eligible for Study: | All |
Accepts Healthy Volunteers: | No |
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

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
Contact: Emmanuelle Lagrue, MD | +33 1 44 73 65 44 | e.lagrue@institut-myologie.org |
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 |
Principal Investigator: | Laurent Servais, MD | Centre de référence neuromusculaire, CHR La Citadelle; 4000 Liege Belgium |
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 |
Studies a U.S. FDA-regulated Drug Product: | No |
Studies a U.S. FDA-regulated Device Product: | No |
CNM XLMTM Myotubular myopathy |
Muscular Diseases Myopathies, Structural, Congenital Musculoskeletal Diseases Neuromuscular Diseases Nervous System Diseases |