Trial Review

The ANZCTR website is back online for trial registration and updates. We apologise for any inconvenience caused while the site was inactive.


With activity expected to increase on the ANZCTR again, there may be extended wait times while we process pending studies, with priority being given to those trials submitted in February. Thank you for your patience.


Reset your password and enable multi-factor authentication (MFA)


For ANZCTR account holders: to help ensure the cyber safety of your account, you’ll need to reset your password and set-up multi-factor authentication (MFA) as per the instructions below.


  1. Go to the Login page, click ‘reset password’ and follow the instructions.
  2. Check your email for the link to set a new password.
  3. Create a new password that meets requirements.
  4. Return to the Login page and enter your new password. A verification code will be sent to your email.
  5. Check your email for the code and enter it on the Login page. If the code is entered incorrectly, you can re-enter the correct one or request a new one.

Learn more about MFA and its importance on the Australian Signals Directorate website.

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been endorsed by the ANZCTR. Before participating in a study, talk to your health care provider and refer to this information for consumers
Trial details imported from ClinicalTrials.gov

For full trial details, please see the original record at https://clinicaltrials.gov/study/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
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 Now Classified as LGMDR2 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
Primary outcome [1] 0 0
North Star assessment for limb girdle-type muscular dystrophies (NSAD)
Timepoint [1] 0 0
24 months

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).
Minimum age
10 Years
Maximum age
No limit
Sex
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
Data analysis
Reason for early stopping/withdrawal
Other reasons
Date of first participant enrolment
Anticipated
Actual
1/09/2012
Date of last participant enrolment
Anticipated
Actual
Date of last data collection
Anticipated
1/03/2024
Actual
Sample size
Target
200
Accrual to date
Final
Recruitment in Australia
Recruitment state(s)
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
Missouri
Country [3] 0 0
United States of America
State/province [3] 0 0
New York
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
Chile
State/province [6] 0 0
Santiago
Country [7] 0 0
Denmark
State/province [7] 0 0
Copenhagen
Country [8] 0 0
France
State/province [8] 0 0
Paris
Country [9] 0 0
Italy
State/province [9] 0 0
Padova
Country [10] 0 0
Japan
State/province [10] 0 0
Tokyo
Country [11] 0 0
Korea, Republic of
State/province [11] 0 0
Busan
Country [12] 0 0
Spain
State/province [12] 0 0
Barcelona
Country [13] 0 0
Spain
State/province [13] 0 0
San Sebastián
Country [14] 0 0
Spain
State/province [14] 0 0
Sevilla
Country [15] 0 0
United Kingdom
State/province [15] 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
Trial website
Trial related presentations / publications
Public notes

Contacts
Principal investigator
Name 0 0
Volker Straub
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

No information has been provided regarding IPD availability


What supporting documents are/will be available?

No Supporting Document Provided



Results publications and other study-related documents

No documents have been uploaded by study researchers.

Results not provided in https://clinicaltrials.gov/study/NCT01676077