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

Description

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.

Study Start Date

September 2014

Estimated Completion Date

July 2016

Interventions

  • Other: Non-interventional, retrospective medical chart review

Specialties

  • Neurology: Basic Science/Genetics,Neuropathy/Myopathy
  • Physician Assistant: Neurology

MeSH Terms

  • Congenital
  • Muscular Diseases
  • retrospective medical chart review

Study ID

Audentes Therapeutics -- ATX-MTM-001 RECENSUS

Status

Unknown

Trial ID

NCT02231697

Study Type

Observational

Trial Phase

N/A

Enrollment Quota

100

Sponsor

Audentes Therapeutics

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)

Gender

Male

Ages

N/A

Accepts Healthy Volunteers

No

Study Locations and Contact Information (8)

Study Location Distance Name Phone Email
Boston Childrens Hospital - Boston, Massachusetts 2.6 miles Lindsay Swanson MS CGC 617-355-5111 lindsay.swanson@childrens.harvard.edu
The Childrens Hospital of Philadelphia - Philadelphia, Pennsylvania 270.8 miles None None None
Lurie Childrens Hospital - Chicago, Illinois 847.9 miles Lauren Webb 312-227-4483 lwebb@luriechildrens.org
University of Florida Gainesville Childrens Research Institute - Gainesville, Florida 1,081.3 miles Lee Ann Lawson MS 352-273-7762 llawson@peds.ufl.edu
Childrens Hospital Colorado - Aurora, Colorado 1,759.8 miles Alicia Camuto CCRP 720-777-5514 alicia.camuto@childrenscolorado.org
Seattle Childrens Hospital - Seattle, Washington 2,487.2 miles None None None
Cure CMD - San Pedro, California 2,607.7 miles Rachel Alavarez 323-250-2399 rachel.alvarez@cmdir.org
Stanford University Medical Center - Stanford, California 2,694.5 miles None None None

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