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Myotubular MyopathyMTMNCT02057705

Prospective, Longitudinal Study of the Natural History and Functional Status of Patients With Myotubular Myopathy (MTM)

An observational study of Myotubular Myopathy, run by Valerion Therapeutics, LLC at 13 sites in 7 countries.

Completed

Finished. The study has ended and is not enrolling. Results may be posted on the official record.

Official record
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Trial summary

This is a prospective, non-interventional, longitudinal study of the natural history and function of approximately 60 patients with MTM from the United States, Canada and Europe. The duration of the study, including the enrollment period, will be 36 months. Read more about this study

Who is it for?
Any age
Conditions the study is for
Myotubular Myopathy
How many people
48 participants
Where
13 sitesin 7 countries
Study dates
Feb 2014to 26 Jun 2017
Phase
Observational
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

Study population: Investigative Research Centers

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 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.
  • MTM resulting from a mutation in the MTM1 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.

Who cannot join

  • Other disease which may significantly interfere with the assessment of MTM and is clearly not related to the disease.
  • Currently enrolled in a treatment study; or treatment with an experimental therapy other than pyridostigmine.

Trial locations and contacts

13 sites in 7 countries.

13 sites in 7 countries

France7 sites

  • Hôpital Femme Mère Enfant, CHU Lyon Escale

    Bron, 69500

  • Roger Salengro Hospital, CHU, Lille

    Lille, 59000

  • Croix Rousse Hospital

    Lyon, 69004

  • Hôpital Armand Trousseau

    Paris, 75012

  • Institut I-Motion, Hôpital A. Trousseau

    Paris, 75012

  • Institut de Myologie, GH Pitié Salpêtrière, Bâtiment Babinski

    Paris, 75651

  • Hôpital Sainte Musse

    Toulon, 83056

Other trials in France

United States1 site

  • Boston Children's Hospital, 300 Longwood Avenue

    Boston, Massachusetts, 02115

Other trials in United States

Belgium1 site

  • Centre Hospitalier Regional de la Citadelle

    Liège, 4000

Other trials in Belgium

Canada1 site

  • Hospital for Sick Children, 555 University Avenue

    Toronto, Ontario, M5G 1X8

Other trials in Canada

Germany1 site

  • University Hospital of Essen

    Essen, D-45147

Other trials in Germany

Italy1 site

  • Bambino Gesù Children's Hospital

    Rome, 4-00165

Other trials in Italy

Spain1 site

  • Hôpital Puertas de Mar

    Cadiz, 21-11009

Other trials in Spain

About this study

This is a prospective, non-interventional, longitudinal study of the natural history and function of approximately 60 patients with MTM from the United States, Canada and Europe. The duration of the study, including the enrollment period, will be 36 months. Data from the study will be used to characterize the disease course of MTM and determine which outcome measures will be the best to assess the efficacy of potential therapies.

Read the detailed description

This is a prospective, non-interventional, longitudinal study of the natural history and function of patients with MTM. The study duration is 36 months. The enrollment period will be 12 months and each patient will be assessed over 24 months. Data will be analyzed at baseline and annually thereafter and reports will be prepared based on these analyses. A final report will summarize findings after all patients have completed 24 months of follow-up. Assessments performed in this study will be based on the age and ambulatory status of the patient. The assessments will also be adjusted to account for the variability in both phenotypes and age of the patients who may participate in this study. Patients will be evaluated at Baseline, Month 6, Month 12 and Month 24. It is anticipated that approximately 60 patients from the United States, Canada and Europe will be included in this study.

Keywords
MTM, myotubular myopathy, X-linked centronuclear myopathy, inherited myopathies, neuromuscular diseases, hypotonia, genetic mutation
Medical subject headings
Myopathies, Structural, Congenital, Neuromuscular Diseases, Muscle Hypotonia

What is being measured

The primary outcome is the main question the study is designed to answer.

  1. Time to characterize the disease course in MTM patients

    Study-specific functional assessments and patient questionnaires will be used and will be based on the age and ambulatory status of the participant

    Measured: Up to 24 Months

Secondary outcomes (1)

  1. Change in disease severity and disease progression

    Study-specific functional assessments and patient questionnaires will be used and will be based on the age and ambulatory status of the participant

    Measured: Baseline, Month 3 (EU only), Month 6, Month 12 and Month 24

Timeline

From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.

  1. First posted7 Feb 2014 (estimated)
  2. Study startFeb 2014
  3. Primary completion26 Jun 2017
  4. Study completion26 Jun 2017

Resources

More details

For doctors and researchers: how the study is designed, who runs it, and its registry IDs.

Study design
Study type
Observational
Observational model
Cohort
Time perspective
Prospective
Enrolment
48 participants (actual)
IDs, dates and publications
ClinicalTrials.gov ID
NCT02057705
Sponsor's protocol ID
VAL-101-13
Acronym
MTM
Status last verified
Jun 2018
First submitted
4 Feb 2014
Last updated
7 Jun 2018
Results posted
No
Data monitoring committee
No
Individual data sharing
No

Publications

  • Herman GE, Finegold M, Zhao W, de Gouyon B, Metzenberg A. Medical complications in long-term survivors with X-linked myotubular myopathy. J Pediatr. 1999 Feb;134(2):206-14. doi: 10.1016/s0022-3476(99)70417-8.

    PubMed 9931531

  • Jungbluth H, Sewry CA, Buj-Bello A, Kristiansen M, Orstavik KH, Kelsey A, Manzur AY, Mercuri E, Wallgren-Pettersson C, Muntoni F. Early and severe presentation of X-linked myotubular myopathy in a girl with skewed X-inactivation. Neuromuscul Disord. 2003 Jan;13(1):55-9. doi: 10.1016/s0960-8966(02)00194-3.

    PubMed 12467733

  • McEntagart M, Parsons G, Buj-Bello A, Biancalana V, Fenton I, Little M, Krawczak M, Thomas N, Herman G, Clarke A, Wallgren-Pettersson C. Genotype-phenotype correlations in X-linked myotubular myopathy. Neuromuscul Disord. 2002 Dec;12(10):939-46. doi: 10.1016/s0960-8966(02)00153-0.

    PubMed 12467749

  • Jungbluth H, Wallgren-Pettersson C, Laporte J. Centronuclear (myotubular) myopathy. Orphanet J Rare Dis. 2008 Sep 25;3:26. doi: 10.1186/1750-1172-3-26.

    PubMed 18817572

  • Annoussamy M, Lilien C, Gidaro T, Gargaun E, Che V, Schara U, Gangfuss A, D'Amico A, Dowling JJ, Darras BT, Daron A, Hernandez A, de Lattre C, Arnal JM, Mayer M, Cuisset JM, Vuillerot C, Fontaine S, Bellance R, Biancalana V, Buj-Bello A, Hogrel JY, Landy H, Servais L. X-linked myotubular myopathy: A prospective international natural history study. Neurology. 2019 Apr 16;92(16):e1852-e1867. doi: 10.1212/WNL.0000000000007319. Epub 2019 Mar 22.

    PubMed 30902907

Questions about this trial

What is this clinical trial studying?

An observational study of Myotubular Myopathy, run by Valerion Therapeutics, LLC at 13 sites in 7 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 5 inclusion and 2 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 7 Jun 2018. Status can change between updates, so confirm with the study contact before making plans.

Where is the study taking place?

The record lists 13 sites in France, United States, Belgium, Canada, Germany and 2 more countries. 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?

Time to characterize the disease course in MTM patients (time frame: Up to 24 Months). It is what the study was designed to measure, not a finding.

Where can I read the original study information?

On the ClinicalTrials.gov record for NCT02057705, which also lists 5 linked publications.

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 7 Jun 2018.

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