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

Title:

Recruitment Status:

Completed

Status Last Updated:

January 21, 2020

Clinical Phenotype(s):

Myotubular Myopathy, X-linked - XLMTM/MTM1

Gene(s):

MTM1

Study Purpose:

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.

Intervention/Treatment:

Other: Non-interventional, retrospective medical chart review

Phase:

Unknown

Study Description:

None

Study Type:

Observational

Official Title:

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

Study Start Date:

September 2014

Study Completion Date:

December 2019

Primary Objective(s):

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 Objective(s):

Age at diagnosis [ Time Frame: Lifetime, up to 50 years ] Descriptive statistics: mean, median, range for age of definitive diagnosis
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
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

Eligibility:

Ages Eligible for Study: Child, Adult, Older Adult

Sexes Eligible for Study: Male

Accepts Healthy Volunteers: No

Sampling Method: Non-Probability Sample

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)

Study Site(s)/Location(s):

United States, California - Cure CMD - San Pedro, California, United States, 90732

United States, Colorado - Children's Hospital Colorado - Aurora, Colorado, United States, 80045

United States, Florida - University of Florida - Gainesville, Children's Research Institute - Gainesville, Florida, United States, 32610

United States, Illinois - Lurie Children's Hospital - Chicago, Illinois, United States, 60611

United States, Massachusetts - Boston Children's Hospital - Boston, Massachusetts, United States, 02115

United States, Pennsylvania - The Children's Hospital of Philadelphia - Philadelphia, Pennsylvania, United States, 19104

United Kingdom

Great Ormond Street Hospital - London, United Kingdom

Royal Manchester Children's Hospital - Manchester, United Kingdom

Sponsors & Collaborators:

Audentes Therapeutics

Principal Investigator(s):

None

For more information, please contact the Study Coordinator:

Contact:

Email:

Phone:

ClinicalTrials.gov ID:

NCT02231697