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Trial details imported from ClinicalTrials.gov
For full trial details, please see the original record at
https://clinicaltrials.gov/ct2/show/NCT01676077
Registration number
NCT01676077
Ethics application status
Date submitted
28/08/2012
Date registered
30/08/2012
Date last updated
26/07/2022
Titles & IDs
Public title
Clinical Outcome Study for Dysferlinopathy
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Scientific title
International Clinical Outcome Study for Dysferlinopathy
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Secondary ID [1]
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85750
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Universal Trial Number (UTN)
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Trial acronym
Jain COS
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Linked study record
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Health condition
Health condition(s) or problem(s) studied:
Dysferlinopathy
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LGMD2B Now Classified as LGMDR2
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Miyoshi Myopathy
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Condition category
Condition code
Musculoskeletal
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Other muscular and skeletal disorders
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Human Genetics and Inherited Disorders
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Other human genetics and inherited disorders
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Intervention/exposure
Study type
Observational
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Patient registry
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Target follow-up duration
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Target follow-up type
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Description of intervention(s) / exposure
Patients with a genetically confirmed dysferlinopathy -
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Comparator / control treatment
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Control group
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Outcomes
Primary outcome [1]
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North Star assessment for limb girdle-type muscular dystrophies (NSAD)
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Assessment method [1]
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A functional scale that will be used to measure motor performance in individuals with LGMD
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Timepoint [1]
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24 months
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Eligibility
Key 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).
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Minimum age
10
Years
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Maximum age
No limit
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Sex
Both males and females
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Can healthy volunteers participate?
No
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Key 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.
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Study design
Purpose
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Duration
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Selection
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Timing
Prospective
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Statistical methods / analysis
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Recruitment
Recruitment status
Active, not recruiting
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Data analysis
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Reason for early stopping/withdrawal
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Other reasons
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Date of first participant enrolment
Anticipated
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Actual
1/09/2012
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Date of last participant enrolment
Anticipated
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Actual
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Date of last data collection
Anticipated
1/03/2024
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Actual
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Sample size
Target
200
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Accrual to date
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Final
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Recruitment in Australia
Recruitment state(s)
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Recruitment outside Australia
Country [1]
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United States of America
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State/province [1]
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California
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United States of America
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Missouri
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United States of America
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New York
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United States of America
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North Carolina
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United States of America
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Ohio
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Chile
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Santiago
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Country [7]
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Denmark
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State/province [7]
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Copenhagen
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Country [8]
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France
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State/province [8]
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Paris
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Country [9]
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Italy
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Padova
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Japan
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State/province [10]
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Tokyo
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Korea, Republic of
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State/province [11]
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Busan
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Spain
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State/province [12]
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Barcelona
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Country [13]
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Spain
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State/province [13]
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San Sebastián
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Spain
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State/province [14]
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Sevilla
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Country [15]
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United Kingdom
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State/province [15]
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Newcastle upon Tyne
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Funding & Sponsors
Primary sponsor type
Other
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Name
Newcastle-upon-Tyne Hospitals NHS Trust
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Address
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Other collaborator category [1]
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Other
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Name [1]
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Jain Foundation
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Address [1]
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Ethics approval
Ethics application status
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Summary
Brief 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.
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Trial website
https://clinicaltrials.gov/ct2/show/NCT01676077
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Trial related presentations / publications
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Public notes
This record is viewable in the ANZCTR as it had previously listed Australia and/or New Zealand as a recruitment site, however these sites have since been removed
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Contacts
Principal investigator
Name
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Volker Straub
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Address
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Newcastle University
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Contact person for public queries
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Contact person for scientific queries
Summary Results
For IPD and results data, please see
https://clinicaltrials.gov/ct2/show/NCT01676077
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