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NCT Number: NCT02704273

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

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.

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Key information

Conditions

X-linked Myotubular Myopathy Muscular Diseases Musculoskeletal Diseases Myopathies, Structural, Congenital Nervous System Diseases Neuromuscular Diseases

Age range

Up to 3 year

Sex eligibility

Male

Study type

Observational

Primary location

Hospital for Sick Children, Toronto, Ontario, Canada

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Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Primary outcomes

  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 outcomes

  1. Characterize quality of life as measured by PedsQL

    Time frame: 3 months to 2 years

Sponsors and collaborators

Lead sponsor

Astellas Gene Therapies

Industry

Registry information

Official study title

INCEPTUS: A Prospective, Non-Interventional Clinical Assessment Study in X Linked Myotubular Myopathy (XLMTM) Subjects Aged 3 Years and Younger

Acronym: INCEPTUS

Important dates

Study start
2016
Primary completion
2019
Study completion
2019
First posted
Mar 10, 2016
Registry last updated
Jul 29, 2022

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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