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Trial record 1 of 1 for:    NCT02704273
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A Clinical Assessment Study in X-Linked Myotubular Myopathy (XLMTM) Subjects (INCEPTUS)

This study is ongoing, but not recruiting participants.
Information provided by (Responsible Party):
Audentes Therapeutics Identifier:
First received: March 1, 2016
Last updated: June 22, 2017
Last verified: June 2017
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.

X-linked Myotubular Myopathy

Study Type: Observational
Study Design: 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

Resource links provided by NLM:

Further study details as provided by Audentes Therapeutics:

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

Estimated Enrollment: 16
Study Start Date: July 2016
Estimated Study Completion Date: January 2019
Estimated Primary Completion Date: January 2019 (Final data collection date for primary outcome measure)

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.

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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Please refer to this study by its identifier: NCT02704273

United States, California
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
Hopital Armand Trousseau
Paris, France, 75012
Ludwig-Maximilians Universität München
Munich, Germany, 803337
United Kingdom
Great Ormond Street Hospital
London, United Kingdom
Sponsors and Collaborators
Audentes Therapeutics
Study Director: Salvador Rico, MD, PhD Audentes Therapeutics
  More Information

Responsible Party: Audentes Therapeutics Identifier: NCT02704273     History of Changes
Other Study ID Numbers: ATX-MTM-009 INCEPTUS
Study First Received: March 1, 2016
Last Updated: June 22, 2017

Keywords provided by Audentes Therapeutics:

Additional relevant MeSH terms:
Muscular Diseases
Myopathies, Structural, Congenital
Musculoskeletal Diseases
Neuromuscular Diseases
Nervous System Diseases processed this record on September 25, 2017