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

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Trial Summary
Trial Overview
Inclusion Criteria

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
9
sites
Boston Children's Hospital
300 Longwood Ave
Boston, Massachusetts 02115
(617) 355-6000
Principal Investigator: Alan Beggs, PhD
Phone: 617-355-5111
Boston Children's Hospital Boston Children's Hospital is a 395-bed comprehensive center for pediatric health care....
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Boston, MA
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Children's Hospital of Philadelphia
South 34th Street
Philadelphia, Pennsylvania 19104
 215-590-1000
Principal Investigator: Sabrina Yum, MD
Phone: 215-590-1719
Children's Hospital of Philadelphia Since its start in 1855 as the nation's first hospital devoted...
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Philadelphia, PA
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Children's Hospital Colorado
13123 E 16th Ave
Aurora, Colorado 80045
(720) 777-1234
Principal Investigator: Michele Yang, MD
Phone: 720-777-5514
Children's Hospital Colorado At Children's Hospital Colorado, we see more, treat more and heal more...
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Aurora, CO
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Lurie Children's Hospital
Chicago, Illinois 60611
Principal Investigator: Nancy Kuntz, MD
Phone: 312-227-4483
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Chicago, IL
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University of Florida - Gainesville, Children's Research Institute
Gainesville, Florida 32610
Principal Investigator: Barry Byrne, MD
Phone: 352-273-7762
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Gainesville, FL
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Great Ormond Street Hospital
London,
Principal Investigator: Francesco Muntoni, MD, FRCPCH, FMed Sci
Phone: +44 20 7905 2639
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London,
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Cure CMD
San Pedro, California 90732
Principal Investigator: Anne Rutkowski, MD
Phone: 323-250-2399
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San Pedro, CA
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Seattle Children's Hospital
4800 Sand Point Way NE
Seattle, Washington 98105
(206) 987-2000
Seattle Children's Hospital Seattle Children’s Hospital specializes in meeting the unique physical, emotional and developmental...
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Seattle, WA
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Stanford Univ Med Ctr
300 Pasteur Dr
Stanford, California 94305
(650) 723-4000
Stanford Univ Med Ctr The Medical Center is uniquely advantaged by its location on the...
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Stanford, CA
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