Clinical Outcome Study for Dysferlinopathy
Public ClinicalTrials.gov record NCT01676077. Field values are reproduced from the official study page; the official ClinicalTrials.gov record remains the source of truth for eligibility, enrollment, and contact information.
Data is sourced from official ClinicalTrials.gov public API records. Always review the official ClinicalTrials.gov record for the latest information.
Official title
International Clinical Outcome Study for Dysferlinopathy
Brief summary
Reproduced verbatim from the official ClinicalTrials.gov record. Not medical advice.
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.
Study identification
- NCT ID
- NCT01676077
- Recruitment status
- Not listed
- Study type
- Observational
- Phase
- Not listed
- Enrollment
- 200 participants
Conditions and interventions
Interventions
Not listed
Eligibility (public fields only)
- Age range
- 10 Years and older
- Sex
- All
- Healthy volunteers
- Healthy volunteers not accepted
This page does not interpret eligibility. Detailed inclusion and exclusion criteria are on the official ClinicalTrials.gov record.
Study timeline
- Start date
- Aug 31, 2012
- Primary completion
- Feb 29, 2024
- Completion
- Feb 29, 2024
- Last update posted
- Jul 25, 2022
2012 – 2024
United States locations
- U.S. sites
- 6
- U.S. states
- 5
- U.S. cities
- 6
| Facility | City | State | ZIP | Site status |
|---|---|---|---|---|
| UC Irvine | Orange | California | — | — |
| Stanford University Medical Center | Palo Alto | California | 944305 | — |
| Neurology & Pathology, Washington University, School of Medicine in St Louis | St Louis | Missouri | 63110 | — |
| Columbia University Medical Centre | New York | New York | — | — |
| Carolinas Medical Center, Neuroscience & Spine Institute, Dept of Neurology | Charlotte | North Carolina | 28207 | — |
| Neuromuscular Center at the Research Institute of Nationwide Children's Hospital | Columbus | Ohio | 43230 | — |
Site contact phone numbers, emails, and investigator names are intentionally not displayed here. Open the official ClinicalTrials.gov record for site contact information.
Non-U.S. locations
This page focuses on the U.S. directory. The official record also lists 10 non-U.S. sites.
About this trial record page
- What this page shows
- Public field values for ClinicalTrials.gov record NCT01676077, including study identification, conditions, interventions, eligibility (age, sex, healthy volunteer), timeline, and U.S. site list.
- What this page does not do
- No medical advice, eligibility judgments, treatment recommendations, study quality scoring, or AI-generated medical summaries. No site contact phone numbers, emails, or investigator names.
- Where the data comes from
- Sourced from the official ClinicalTrials.gov public API. The official record is the source of truth.
- Last refresh
- Last update posted Jul 25, 2022 · Synced Sep 10, 2026
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Open the official record
The complete protocol, eligibility criteria, and contact information for NCT01676077 live on ClinicalTrials.gov.