Clinical trial NCT02231697: A Medical Chart Review of Patients With X-Linked Myotubular Myopathy (XLMTM)
Official title: The RECENSUS Study: A Medical Chart Review of Patients With X-Linked Myotubular Myopathy (XLMTM)
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Males With X-linked Myotubular Myopathy (XLMTM)
Keywords: XLMTM
Lead sponsor: Astellas Pharma Inc
Sponsor class: INDUSTRY
First posted: 2014-09-04
Enrollment: 161
Sex: MALE
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: OTHER
Time perspective: RETROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Males with X-linked myotubular myopathy

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.


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)

Primary outcomes:
measure: Survival
timeFrame: Lifetime, up to 50 years
Secondary outcomes:
measure: Age at diagnosis
timeFrame: Lifetime, up to 50 years
measure: Age at tracheostomy (if applicable)
timeFrame: Lifetime, up to 50 years
measure: Age at need for/type of ventilation (if applicable)
timeFrame: Lifetime, up to 50 years
Other outcomes:
Locations:
city: San Pedro
country: United States
facility: Cure CMD
state: California
city: Aurora
country: United States
facility: Children's Hospital Colorado
state: Colorado
city: Gainesville
country: United States
facility: University of Florida - Gainesville, Children's Research Institute
state: Florida
city: Chicago
country: United States
facility: Lurie Children's Hospital
state: Illinois
city: Boston
country: United States
facility: Boston Children's Hospital
state: Massachusetts
city: Philadelphia
country: United States
facility: The Children's Hospital of Philadelphia
state: Pennsylvania
city: London
country: United Kingdom
facility: Great Ormond Street Hospital
city: Manchester
country: United Kingdom
facility: Royal Manchester Children's Hospital
Study officials:
References:
citation: Graham RJ, Muntoni F, Hughes I, Yum SW, Kuntz NL, Yang ML, Byrne BJ, Prasad S, Alvarez R, Genetti CA, Haselkorn T, James ES, LaRusso LB, Noursalehi M, Rico S, Beggs AH. Mortality and respiratory support in X-linked myotubular myopathy: a RECENSUS retrospective analysis. Arch Dis Child. 2020 Apr;105(4):332-338. doi: 10.1136/archdischild-2019-317910. Epub 2019 Sep 4.