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Clinical Outcome Study for Dysferlinopathy
Not Recruiting
Trial ID: NCT01676077
Purpose
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.
Official Title
International Clinical Outcome Study for Dysferlinopathy
Eligibility
Inclusion Criteria:
- Confirmed diagnosis of dysferlinopathy proven by a) two (predicted) pathogenic dysferlin
mutations, b) one (predicted) pathogenic dysferlin mutation and absent dysferlin protein on
muscle immunoblot, or c) one (predicted) pathogenic dysferlin mutation and dysferlin
protein level ≤20% of normal level determined by blood monocyte testing. Mutations will be
checked for pathogenicity via the UMD bioinformatics tools and and by checking the
literature and mutation /variant databases.
NOTE: Contact Sarah Shira at the Jain Foundation for help with diagnosis at +1 425 882 1492
- Ambulant with or without aids; or full-time wheelchair user, i.e. non-ambulant; with
the ratio 2:1 between recruited ambulant and recruited non-ambulant patients.
- All ages ≥ 10 years of age.
- Ability to perform assessments (there will be different assessments for ambulant and
non-ambulant patients).
- Ability to attend scheduled investigations.
- Informed consent to participate in the clinical outcome study.
NOTE: Funds are available to cover necessary hotel stays and travel costs to the study
centres for the participant and a helper (if needed).
Exclusion Criteria:
- Known current or planned medical or other interventions that might interfere with the
possibility to undertake the planned tests.
- Other concomitant pathology that in the view of the investigator would jeopardise the
ability to take part in the protocol.
Not Recruiting
Contact Information
Stanford University
School of Medicine
300 Pasteur Drive
Stanford,
CA
94305