Males With X-linked Myotubular Myopathy (XLMTM) Clinical Trial
Official title:
The RECENSUS Study: A Medical Chart Review of Patients With X-Linked Myotubular Myopathy (XLMTM)
| Verified date | July 2022 |
| Source | Astellas Pharma Inc |
| Contact | n/a |
| Is FDA regulated | No |
| Health authority | |
| Study type | Observational |
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.
| Status | Completed |
| Enrollment | 161 |
| Est. completion date | December 2019 |
| Est. primary completion date | December 2019 |
| Accepts healthy volunteers | No |
| Gender | Male |
| Age group | N/A and older |
| Eligibility | 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) |
| Country | Name | City | State |
|---|---|---|---|
| United Kingdom | Great Ormond Street Hospital | London | |
| United Kingdom | Royal Manchester Children's Hospital | Manchester | |
| United States | Children's Hospital Colorado | Aurora | Colorado |
| United States | Boston Children's Hospital | Boston | Massachusetts |
| United States | Lurie Children's Hospital | Chicago | Illinois |
| United States | University of Florida - Gainesville, Children's Research Institute | Gainesville | Florida |
| United States | The Children's Hospital of Philadelphia | Philadelphia | Pennsylvania |
| United States | Cure CMD | San Pedro | California |
| Lead Sponsor | Collaborator |
|---|---|
| Astellas Gene Therapies |
United States, United Kingdom,
| Type | Measure | Description | Time frame | Safety issue |
|---|---|---|---|---|
| Primary | 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 | Age at diagnosis | Descriptive statistics: mean, median, range for age of definitive diagnosis | Lifetime, up to 50 years | |
| Secondary | 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 | |
| Secondary | 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 |