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

Study Overview
=================
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.

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

Conditions
-----------------
Males With X-linked Myotubular Myopathy (XLMTM)

Intervention / Treatment
-----------------
* Other: Non-interventional, retrospective medical chart review


Participation Criteria
=================
Eligibility Criteria
-----------------
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)
Sexes Eligible for Study
-----------------
Male

Accepts Healthy Volunteers
-----------------
No

Study Plan
=================
How is the study designed?
-----------------

Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| XLMTM patients - deceased<br>Non-interventional, retrospective medical chart review | Other: Non-interventional, retrospective medical chart review<br>* Non-interventional, retrospective medical chart review<br>|
| XLMTM patients - living<br>Non-interventional, retrospective medical chart review | Other: Non-interventional, retrospective medical chart review<br>* Non-interventional, retrospective medical chart review<br>|

What is the study measuring?
-----------------
Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Survival | Descriptive statistics: mean, median, range for age at death for deceased patients, mean, median, range for current age for living patients | Lifetime, up to 50 years | 

Secondary Outcome Measures

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

 Terms related to the study
=================
Keywords Provided by Centre Hospitalier Valida
-----------------
XLMTM