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Clinical Outcome Study for Dysferlinopathy

NCT01676077 · Status: UNKNOWN · Type: OBSERVATIONAL · Enrollment: 200

Last updated 2022-07-26

No results posted yet for this study

Summary

The "Clinical Outcome Study for Dysferlinopathy" is being performed in centres in Europe (UK- Newcastle; Spain- Barcelona, Sevilla; San Sebastian;Denmark, Copenhagen, Italy- Padova; France- Paris,), USA (Charlotte, NC; Columbus, OH; St.Louis, MO, Stanford CA, Irvine CA and Columbia NY), Chile (Santiago) Japan (Tokyo) and South Korea (Pusan). Oversight is provided by Newcastle upon Tyne Hospitals Trust. Funding for this study is being provided by the Jain Foundation, a non-profit foundation dedicated to finding therapies for dysferlinopathies(LGMD2b/Miyoshi). The aim of this "Clinical Outcome Study" is to determine the clinical outcome measures required for future clinical trials, characterize the disease progression of dysferlinopathy and collect biological samples for the identification of disease markers that are needed to non-invasively monitor the disease during clinical trials. Without this information, effective clinical trials cannot be performed.

This study is recruiting a large number of genetically confirmed dysferlinopathy patients aged 10 years or older, who are ambulant or non-ambulant. The study has reopened for a further two years (COS2). Participants will be assessed at 4 further visits over 2 years via medical, physiotherapy, and MRI/MRS assessments, as well as standard blood tests. Optionally, the participants can donate blood samples and a skin sample for use in the identification of disease markers and other approved research. There is a sub-study running in MRI at selected sites.

Conditions

  • Dysferlinopathy
  • LGMD2B Now Classified as LGMDR2
  • Miyoshi Myopathy

Sponsors & Collaborators

  • Jain Foundation

    collaborator OTHER

  • Newcastle-upon-Tyne Hospitals NHS Trust

    lead OTHER

Principal Investigators

  • Volker Straub · Newcastle University

  • Meredith K James · Newcastle University

Eligibility

Min Age
10 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2012-09-30
Primary Completion
2024-03-31
Completion
2024-03-31

Countries

  • United States
  • Chile
  • Denmark
  • France
  • Italy
  • Japan
  • South Korea
  • Spain
  • United Kingdom

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT01676077 on ClinicalTrials.gov