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

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

Status

Completed

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT02231697

Enrollment

161

Registered

2014-09-04

Start date

2014-09-30

Completion date

2019-12-31

Last updated

2022-07-29

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Males With X-linked Myotubular Myopathy (XLMTM)

Keywords

XLMTM

Brief summary

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.

Interventions

OTHERNon-interventional, retrospective medical chart review

Non-interventional, retrospective medical chart review

Study design

Observational model

OTHER

Time perspective

RETROSPECTIVE

Eligibility

Sex/Gender

MALE

Healthy volunteers

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)

Design outcomes

Primary

Measure	Time frame	Description
Survival	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

Measure	Time frame	Description
Age at diagnosis	Lifetime, up to 50 years	Descriptive statistics: mean, median, range for age of definitive diagnosis
Age at tracheostomy (if applicable)	Lifetime, up to 50 years	Descriptive statistics: mean, median, range for number of patients requiring tracheostomy (if applicable) and average age at tracheostomy
Age at need for/type of ventilation (if applicable)	Lifetime, up to 50 years	Descriptive statistics: mean, median, range for number of patients requiring ventilation (if applicable) and type of ventilation

Countries

United Kingdom, United States

Outcome results

None listed

Source: ClinicalTrials.gov · Data processed: Feb 20, 2026