Centronuclear MyopathyNatHis-CNMNCT03351270
Prospective Natural History Study of Patients With Myotubular Myopathy and Other CentroNuclear Myopathies
A study testing Standardized strength, respiratory and motor function assessments in people with Centronuclear Myopathy, run by Institut de Myologie, France at 11 sites in 5 countries.
Trial 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). Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Centronuclear Myopathy
- What is being tested?
- Standardized strength, respiratory and motor function assessments
- How many people
- 60 participants
- Where
- 11 sitesin 5 countries
- Study dates
- 28 May 2017to 30 Sep 2021
- Phase
- Interventional
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Who may be able to join
- 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
Who cannot join
- 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
Trial locations and contacts
11 sites in 5 countries.
11 sites in 5 countries
France7 sites
Hôpital Femme Mère Enfant, CHU Lyon L'Escale
Bron, 69500
Hôpital Roger Salengro, CHU Lille
Lille, 59000
Hôpital de la Croix Rousse
Lyon, 69004
Hôpital Armand Trousseau
Paris, 75012
I-Motion Institute - Trousseau Hospital
Paris, 75012
Institute of Myology
Paris, 75013
Hôpital Sainte Musse
Toulon, 83056
Belgium1 site
Centre de référence neuromusculaire, CHR La Citadelle
Liège, 4000
About this study
Official title: Prospective, Longitudinal Study of the Natural History and Functional Status of Patients With Myotubular Myopathy and Other CentroNuclear Myopathies
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
- Being tested
- Standardized strength, respiratory and motor function assessments
- Keywords
- CNM, XLMTM, Myotubular myopathy
- Medical subject headings
- Myopathies, Structural, Congenital
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Standardized strength, respiratory and motor function assessmentsOther
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.
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: 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
Measured: 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
Measured: Baseline, 6 months, 12 months and every year up to 60 months
Moviplate score change from baseline
Moviplate score
Measured: Baseline, 6 months, 12 months and every year up to 60 months
6MWD change from baseline
6 Minute Walking Distance
Measured: Baseline, 6 months, 12 months and every year up to 60 months
Grip strength change from baseline
MyoGrip
Measured: Baseline, 6 months, 12 months and every year up to 60 months
Pinch strength change from baseline
MyoPinch
Measured: Baseline, 6 months, 12 months and every year up to 60 months
Forced Vital Capacity change from baseline
Measured: Baseline, 6 months, 12 months and every year up to 60 months
Peak Cough Flow change from baseline
Measured: Baseline, 6 months, 12 months and every year up to 60 months
Maximum Inspiratory Pressure change from baseline
Measured: Baseline, 6 months, 12 months and every year up to 60 months
Maximum Expiratory Pressure change from baseline
Measured: Baseline, 6 months, 12 months and every year up to 60 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted22 Nov 2017
- Study start28 May 2017
- Primary completion30 Sep 2021
- Study completion30 Sep 2021
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Centronuclear MyopathyStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Other
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 60 participants (actual)
Sponsor and investigators
- Lead sponsor
- Institut de Myologie, France
- Sponsor type
- University, hospital or other
- Collaborators
- Dynacure
- Responsible party
- Sponsor
- Investigators
- Laurent Servais, MD, Principal investigator, Centre de référence neuromusculaire, CHR La Citadelle; 4000 Liege Belgium
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03351270
- Sponsor's protocol ID
- NatHis-CNM
- Acronym
- NatHis-CNM
- Status last verified
- Mar 2023
- First submitted
- 14 Nov 2017
- Last updated
- 2 Mar 2023
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 2 Mar 2023. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Prospective, Longitudinal Study of the Natural History and Functional Status of Patients With Myotubular Myopathy and Other CentroNuclear Myopathies
- ClinicalTrials.gov ID
- NCT03351270
- Acronym / sponsor ID
- NatHis-CNM / NatHis-CNM
- Conditions
- Centronuclear Myopathy
- Keywords
- CNM, XLMTM, Myotubular myopathy
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 60 participants (actual)
- Lead sponsor
- Institut de Myologie, FranceUniversity, hospital or other
- Collaborators
- Dynacure
- Study start
- 28 May 2017 (actual)
- Primary completion
- 30 Sep 2021 (actual)
- Study completion
- 30 Sep 2021 (actual)
- First posted
- 22 Nov 2017 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Primary purpose
- Other
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (6 listed)
- 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.
Key exclusion criteria (3 listed)
- 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
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Standardized strength, respiratory and motor function assessmentsStandardized 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. | Other | – |
Primary outcome
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
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 2 Mar 2023.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Laurent Servais, MD principal investigator
Centre de référence neuromusculaire, CHR La Citadelle; 4000 Liege Belgium
11 sites in 5 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Standardized strength, respiratory and motor function assessments in people with Centronuclear Myopathy, run by Institut de Myologie, France at 11 sites in 5 countries.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 6 inclusion and 3 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 2 Mar 2023. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 11 sites in France, Belgium, Germany, Italy, Spain. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
MFM score change from baseline (time frame: Baseline, 6 months, 12 months and every year up to 60 months). The study lists 11 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 2 Mar 2023.