Trial record 5 of 7 for:    "central core disease" OR "Myopathies, Structural, Congenital" OR "Myopathy, Central Core"

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

This study is currently recruiting participants. (see Contacts and Locations)
Verified September 2014 by Valerion Therapeutics, LLC
Sponsor:
Collaborators:
Institut de Myologie, France
Genethon
Information provided by (Responsible Party):
Valerion Therapeutics, LLC
ClinicalTrials.gov Identifier:
NCT02057705
First received: February 4, 2014
Last updated: September 11, 2014
Last verified: September 2014
  Purpose

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.


Condition
Myotubular Myopathy

Study Type: Observational
Study Design: Observational Model: Cohort
Time Perspective: Prospective
Official Title: Prospective, Longitudinal Study of the Natural History and Functional Status of Patients With Myotubular Myopathy (MTM)

Resource links provided by NLM:


Further study details as provided by Valerion Therapeutics, LLC:

Primary Outcome Measures:
  • Time to characterize the disease course in MTM patients [ Time Frame: Up to 24 Months ] [ Designated as safety issue: No ]
    Study-specific functional assessments and patient questionnaires will be used and will be based on the age and ambulatory status of the participant


Secondary Outcome Measures:
  • Change in disease severity and disease progression [ Time Frame: Baseline, Month 3 (EU only), Month 6, Month 12 and Month 24 ] [ Designated as safety issue: No ]
    Study-specific functional assessments and patient questionnaires will be used and will be based on the age and ambulatory status of the participant


Other Outcome Measures:
  • Number of participants with an immune response against adeno-associated virus (AAV) [ Time Frame: Baseline Visit ] [ Designated as safety issue: No ]
    A 5 ml sample of whole blood will be collected during the study to assess the immunity against various AAV serotypes.


Biospecimen Retention:   Samples With DNA
  • 5 ml sample of whole blood will be collected during the study to assess the immunity against various AAV serotypes
  • 5 ml blood sample may be obtained for peripheral blood mononuclear cells (PBMC) to quantify X-linked myotubular myopathy gene 1 (MTM1) production
  • 24-hour urine collection will be performed every 6 months in order to measure urinary creatinine excretion
  • Slides and tissue from a previously performed muscle biopsy will be obtained for a central review and quantification of histo- and immunohistopathological features of MTM

Estimated Enrollment: 60
Study Start Date: February 2014
Estimated Study Completion Date: November 2016
Estimated Primary Completion Date: November 2016 (Final data collection date for primary outcome measure)
  Eligibility

Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population

Investigative Research Centers

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 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.

Exclusion criteria:

  • 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.
  Contacts and Locations
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, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT02057705

Contacts
Contact: Michelle Nelken 617-755-4149 michelle.nelken@alopexx.com

Locations
United States, Maryland
National Institute of Health, Neuroscience Research Center Building 35, Room 2A-116 MSC 3705 35 Convent Drive Not yet recruiting
Bethesda, Maryland, United States, 20892-3705
Contact: Mike Averion    301-594-2760    averion.gilberto@nih.gov   
Principal Investigator: Carsten Bonnemann, MD         
United States, Massachusetts
Boston Children's Hospital, 300 Longwood Avenue Recruiting
Boston, Massachusetts, United States, 02115
Contact: Heather Szelag    617-355-6388    heather.szelag@children's.harvard.edu   
Principal Investigator: Basil Darras, MD         
Canada, Ontario
Hospital for Sick Children, 555 University Avenue Recruiting
Toronto, Ontario, Canada, M5G 1X8
Contact: Kim Amburgey    (416) 813-7654 ext 301707    kim.amburgey@sickkids.ca   
Principal Investigator: James Dowling, MD         
France
Institut de Myologie, GH Pitié Salpêtrière, Bâtiment Babinski Recruiting
Paris Cedex 13, France, 75651
Contact: Mélanie Annoussamy    +33 1 42 16 66 49    m.annoussamy@institut-myologie.org   
Principal Investigator: Laurent Servais, MD         
Sponsors and Collaborators
Valerion Therapeutics, LLC
Institut de Myologie, France
Genethon
Investigators
Study Director: Hal Landy, MD Valerion Therapeutics, LLC
  More Information

Additional Information:
Publications:
Responsible Party: Valerion Therapeutics, LLC
ClinicalTrials.gov Identifier: NCT02057705     History of Changes
Other Study ID Numbers: VAL-101-13
Study First Received: February 4, 2014
Last Updated: September 11, 2014
Health Authority: United States: Institutional Review Board
Canada: Ethics Review Committee
France: Institutional Ethical Committee
France: Agence Nationale de Sécurité du Médicament et des produits de santé

Keywords provided by Valerion Therapeutics, LLC:
MTM
myotubular myopathy
X-linked centronuclear myopathy
inherited myopathies
neuromuscular diseases
hypotonia
genetic mutation

Additional relevant MeSH terms:
Muscular Diseases
Myopathies, Structural, Congenital
Musculoskeletal Diseases
Nervous System Diseases
Neuromuscular Diseases

ClinicalTrials.gov processed this record on October 21, 2014