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

Status:	Recruiting
Conditions:	Neurology
Therapuetic Areas:	Neurology
Healthy:	No
Age Range:	Any
Updated:	2/8/2019
Start Date:	September 2014
End Date:	December 2019
Contact:	Caroline Finlay, MPH
Email:	cfinlay@audentestx.com
Phone:	415-818-1089

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

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.

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)

We found this trial at

sites

Great Ormond Street Hospital

London,

Principal Investigator: Francesco Muntoni, MD, FRCPCH, FMed Sci

Phone: +44 20 7905 2639

from

London,