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Trial details imported from ClinicalTrials.gov

For full trial details, please see the original record at https://clinicaltrials.gov/show/NCT01676077




Registration number
NCT01676077
Ethics application status
Date submitted
28/08/2012
Date registered
30/08/2012
Date last updated
30/03/2017

Titles & IDs
Public title
Clinical Outcome Study for Dysferlinopathy
Scientific title
International Clinical Outcome Study for Dysferlinopathy
Secondary ID [1] 0 0
85750
Universal Trial Number (UTN)
Trial acronym
Jain COS
Linked study record

Health condition
Health condition(s) or problem(s) studied:
Dysferlinopathy 0 0
LGMD2B 0 0
Miyoshi Myopathy 0 0
Condition category
Condition code
Musculoskeletal 0 0 0 0
Other muscular and skeletal disorders
Human Genetics and Inherited Disorders 0 0 0 0
Other human genetics and inherited disorders

Intervention/exposure
Study type
Observational
Patient registry
Target follow-up duration
Target follow-up type
Description of intervention(s) / exposure
Patients with a genetically confirmed dysferlinopathy -

Comparator / control treatment
Control group

Outcomes

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.

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).
Minimum age
10 Years
Maximum age
No limit
Gender
Both males and females
Can healthy volunteers participate?
No
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.

Study design
Purpose
Duration
Selection
Timing
Prospective
Statistical methods / analysis

Recruitment
Recruitment status
Unknown status
Data analysis
Reason for early stopping/withdrawal
Other reasons
Date of first participant enrolment
Anticipated
Actual
Date of last participant enrolment
Anticipated
Actual
Date of last data collection
Anticipated
Actual
Sample size
Target
Accrual to date
Final
Recruitment in Australia
Recruitment state(s)
NSW
Recruitment hospital [1] 0 0
The Children's Hospital at Westmead, Institute for Neuroscience and Muscle Research - Westmead, Sydney
Recruitment postcode(s) [1] 0 0
2145 - Westmead, Sydney
Recruitment outside Australia
Country [1] 0 0
United States of America
State/province [1] 0 0
California
Country [2] 0 0
United States of America
State/province [2] 0 0
District of Columbia
Country [3] 0 0
United States of America
State/province [3] 0 0
Missouri
Country [4] 0 0
United States of America
State/province [4] 0 0
North Carolina
Country [5] 0 0
United States of America
State/province [5] 0 0
Ohio
Country [6] 0 0
France
State/province [6] 0 0
Marseille
Country [7] 0 0
France
State/province [7] 0 0
Paris
Country [8] 0 0
Germany
State/province [8] 0 0
Berlin
Country [9] 0 0
Germany
State/province [9] 0 0
Munich
Country [10] 0 0
Italy
State/province [10] 0 0
Padova
Country [11] 0 0
Japan
State/province [11] 0 0
Tokyo
Country [12] 0 0
Spain
State/province [12] 0 0
Barcelona
Country [13] 0 0
Spain
State/province [13] 0 0
Sevilla
Country [14] 0 0
United Kingdom
State/province [14] 0 0
Newcastle upon Tyne

Funding & Sponsors
Primary sponsor type
Other
Name
Newcastle-upon-Tyne Hospitals NHS Trust
Address
Country
Other collaborator category [1] 0 0
Other
Name [1] 0 0
Jain Foundation
Address [1] 0 0
Country [1] 0 0

Ethics approval
Ethics application status

Summary
Brief summary
The "Clinical Outcome Study for Dysferlinopathy" is being performed in centres in Europe (UK-
Newcastle; Spain- Barcelona, Sevilla; Germany- Berlin, Munich; Italy- Padova; France- Paris,
Marseille), USA (Charlotte, NC; Columbus, OH; Washington, DC; St.Louis, MO, Stanford CA),
Japan (Tokyo) and Australia (Sydney). Oversight and 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. Participants will be assessed at 6
visits over 3 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.
Trial website
https://clinicaltrials.gov/show/NCT01676077
Trial related presentations / publications
Public notes

Contacts
Principal investigator
Name 0 0
Kate Bushby, MB ChB MRCP
Address 0 0
Newcastle University
Country 0 0
Phone 0 0
Fax 0 0
Email 0 0
Contact person for public queries
Name 0 0
Address 0 0
Country 0 0
Phone 0 0
Fax 0 0
Email 0 0
Contact person for scientific queries

Summary results
For IPD and results data, please see https://clinicaltrials.gov/show/NCT01676077