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A Clinical Assessment Study in X-Linked Myotubular Myopathy (XLMTM) Subjects (INCEPTUS)

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: NCT02704273
Recruitment Status : Completed
First Posted : March 10, 2016
Last Update Posted : July 29, 2022
Sponsor:
Information provided by (Responsible Party):
Astellas Pharma Inc ( Astellas Gene Therapies )

Study Description
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Brief Summary:
This is a pre-Phase 1 prospective, non interventional clinical assessment study to evaluate XLMTM subjects aged 3 years and younger. Many of these clinically relevant measures have not yet been routinely assessed in this population and may provide important insight on the natural history of XLMTM and for future evaluation of potential therapies.

Condition or disease
X-linked Myotubular Myopathy

Study Design
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Study Type : Observational
Actual Enrollment : 34 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: INCEPTUS: A Prospective, Non-Interventional Clinical Assessment Study in X Linked Myotubular Myopathy (XLMTM) Subjects Aged 3 Years and Younger
Study Start Date : July 2016
Actual Primary Completion Date : September 2019
Actual Study Completion Date : September 2019

Resource links provided by the National Library of Medicine

MedlinePlus related topics: Muscle Disorders

Groups and Cohorts
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Outcome Measures
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Primary Outcome Measures :
  1. Characterize the disease course and natural history of XLMTM using respiratory assessment of strength as measured by PImax [ Time Frame: 3 months to 2 years ]
  2. Characterize the disease course and natural history of XLMTM using neuromuscular assessments, as measured by CHOP INTEND/MFM-20 [ Time Frame: 3 months to 2 years ]

Secondary Outcome Measures :
  1. Characterize quality of life as measured by PedsQL [ Time Frame: 3 months to 2 years ]

Eligibility Criteria
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Information from the National Library of Medicine

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Ages Eligible for Study:   up to 3 Years   (Child)
Sexes Eligible for Study:   Male
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
XLMTM subjects aged 3 years and younger.
Criteria

Inclusion Criteria:

  • Subject has a diagnosis of XLMTM resulting from a confirmed mutation in the MTM1 gene
  • Subject is male
  • Subject is aged less than 4 years
  • Subject requires some mechanical ventilatory support (eg, ranging from 24 hours per day full time mechanical ventilation, to noninvasive support such as continuous positive airway pressure [CPAP] or bilevel positive airway pressure [BiPAP] during sleeping hours)
  • Access to subject's medical records
  • Signed informed consent by the parent(s) or legally authorized representative(s) (LAR) (when applicable)
  • Subject and parent(s) or LAR are willing and able to comply with study visits and study procedures

Exclusion Criteria:

  • Subject is participating in an interventional study designed to treat XLMTM
  • Subject born <35 weeks gestation who is still not to term as per corrected age
  • Subject has a clinically important condition, or life-threatening disease other than XLMTM, in the opinion of the investigator
  • Subject has received pyridostigmine or any medication to treat XLMTM within 30 days of enrollment
Contacts and Locations
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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): NCT02704273


Locations
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United States, California
UCLA
Los Angeles, California, United States, 90095
United States, Florida
University of Florida
Gainesville, Florida, United States, 32610
United States, Illinois
Ann & Robert H. Lurie Children's Hospital of Chicago
Chicago, Illinois, United States, 60611
United States, Maryland
National Institute of Neurological Disorders and Stroke/NIH Porter
Bethesda, Maryland, United States, 20892
Canada, Ontario
Hospital for Sick Children
Toronto, Ontario, Canada, M5G0A4
France
Hopital Armand Trousseau
Paris, France, 75012
Germany
Ludwig-Maximilians Universität München
Munich, Germany, 803337
United Kingdom
Great Ormond Street Hospital
London, United Kingdom
Sponsors and Collaborators
Astellas Gene Therapies
Investigators
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Study Director: Salvador Rico, MD, PhD Audentes Therapeutics
More Information
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Responsible Party: Astellas Gene Therapies
ClinicalTrials.gov Identifier: NCT02704273    
Other Study ID Numbers: ATX-MTM-009 INCEPTUS
First Posted: March 10, 2016    Key Record Dates
Last Update Posted: July 29, 2022
Last Verified: July 2022
Keywords provided by Astellas Pharma Inc ( Astellas Gene Therapies ):
MTM
XLMTM
Additional relevant MeSH terms:
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Muscular Diseases
Myopathies, Structural, Congenital
Musculoskeletal Diseases
Neuromuscular Diseases
Nervous System Diseases