Skip to main content
OpenTrials
Completed

NCT Number: NCT02231697

A Medical Chart Review of Patients With X-Linked Myotubular Myopathy (XLMTM)

This retrospective medical chart review (RECENSUS) of approximately 100 XLMTM patients (with a goal to obtain 50 deceased and 20 living records) will provide further knowledge about the clinical manifestations and recorded medical management of XLMTM and potentially inform the design of future therapeutic intervention studies.

Completed

Looking for future studies?

Notify Me

Key information

Conditions

Males With X-linked Myotubular Myopathy (XLMTM) Muscular Diseases Musculoskeletal Diseases Myopathies, Structural, Congenital Nervous System Diseases Neuromuscular Diseases

Sex eligibility

Male

Study type

Observational

Primary location

Great Ormond Street Hospital, London, United Kingdom

Loading trial locations.

Who can participate

Healthy volunteers accepted: No

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

Inclusion criteria

  • Patient diagnosed with XLMTM resulting from a confirmed mutation in the MTM1 gene, or a combination of XLMTM genetically confirmed family history and muscle biopsy
  • Patient is male
  • Access to available medical records for each patient
  • Signed informed consent by the parent(s) or legal guardians and/or assent by the patient (when applicable), unless the associated IRB provides an appropriate consent waiver

Exclusion criteria

  • Patient data after participation in an interventional study designed to treat XLMTM (patient data prior to participation in an interventional study may be included)

Treatment and study plan

Non-interventional, retrospective medical chart review

Other

Non-interventional, retrospective medical chart review

Primary outcomes

  1. Survival

    Time frame: Lifetime, up to 50 years

    Descriptive statistics: mean, median, range for age at death for deceased patients, mean, median, range for current age for living patients

Secondary outcomes

  1. Age at diagnosis

    Time frame: Lifetime, up to 50 years

    Descriptive statistics: mean, median, range for age of definitive diagnosis

  2. Age at tracheostomy (if applicable)

    Time frame: Lifetime, up to 50 years

    Descriptive statistics: mean, median, range for number of patients requiring tracheostomy (if applicable) and average age at tracheostomy

  3. Age at need for/type of ventilation (if applicable)

    Time frame: Lifetime, up to 50 years

    Descriptive statistics: mean, median, range for number of patients requiring ventilation (if applicable) and type of ventilation

Sponsors and collaborators

Lead sponsor

Astellas Gene Therapies

Industry

Registry information

Official study title

The RECENSUS Study: A Medical Chart Review of Patients With X-Linked Myotubular Myopathy (XLMTM)

Important dates

Study start
2014
Primary completion
2019
Study completion
2019
First posted
Sep 4, 2014
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.

Related clinical trials

Published trials that share one or more normalized conditions with this study.