Prospective Natural History Study of Patients With Myotubular Myopathy and Other CentroNuclear Myopathies (NatHis-CNM)
|
The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. |
| ClinicalTrials.gov Identifier: NCT03351270 |
|
Recruitment Status :
Completed
First Posted : November 22, 2017
Last Update Posted : March 2, 2023
|
Sponsor:
Institut de Myologie, France
Collaborator:
Dynacure
Information provided by (Responsible Party):
Institut de Myologie, France
- Study Details
- Tabular View
- No Results Posted
- Disclaimer
- How to Read a Study Record
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 Type : | Interventional (Clinical Trial) |
| Actual Enrollment : | 60 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 |
| Actual Primary Completion Date : | September 30, 2021 |
| Actual Study Completion Date : | September 30, 2021 |
Resource links provided by the National Library of Medicine
MedlinePlus Genetics related topics:
Cap myopathy
Actin-accumulation myopathy
Central core disease
Centronuclear myopathy
Intranuclear rod myopathy
MedlinePlus related topics:
Muscle Disorders
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.
Primary Outcome Measures :
- 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 ]
Information from the National Library of Medicine
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.
| 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
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
Locations
| Belgium | |
| Centre de référence neuromusculaire, CHR La Citadelle | |
| Liège, Belgium, 4000 | |
| France | |
| Hôpital Femme Mère Enfant, CHU Lyon L'Escale | |
| Bron, France, 69500 | |
| Hôpital Roger Salengro, CHU Lille | |
| Lille, France, 59000 | |
| Hôpital de la Croix Rousse | |
| Lyon, France, 69004 | |
| Hôpital Armand Trousseau | |
| Paris, France, 75012 | |
| I-Motion Institute - Trousseau Hospital | |
| Paris, France, 75012 | |
| Institute of Myology | |
| Paris, France, 75013 | |
| Hôpital Sainte Musse | |
| Toulon, France, 83056 | |
| Germany | |
| Universitätsklinikum Essen (AöR) | |
| Essen, Germany, D-45147 | |
| Italy | |
| Bambino Gesu Children's Hospital | |
| Roma, Italy, 00146 | |
| Spain | |
| Hospital Puerta del Mar | |
| Cadiz, Spain, 21-11009 | |
Sponsors and Collaborators
Institut de Myologie, France
Dynacure
Investigators
| 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: | March 2, 2023 |
| Last Verified: | March 2023 |
| 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:
|
Muscular Diseases Myopathies, Structural, Congenital Musculoskeletal Diseases Neuromuscular Diseases Nervous System Diseases |