Clinical Outcome Study for Dysferlinopathy (Jain COS)
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ClinicalTrials.gov Identifier: NCT01676077 |
Recruitment Status : Unknown
Verified March 2017 by Newcastle-upon-Tyne Hospitals NHS Trust.
Recruitment status was: Active, not recruiting
First Posted : August 30, 2012
Last Update Posted : March 30, 2017
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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.
Condition or disease |
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Dysferlinopathy LGMD2B Miyoshi Myopathy |

Study Type : | Observational |
Estimated Enrollment : | 150 participants |
Observational Model: | Cohort |
Time Perspective: | Prospective |
Official Title: | International Clinical Outcome Study for Dysferlinopathy |
Study Start Date : | September 2012 |
Estimated Primary Completion Date : | March 2018 |
Estimated Study Completion Date : | March 2018 |

Group/Cohort |
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Patients with a genetically confirmed dysferlinopathy |

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.
Ages Eligible for Study: | 10 Years and older (Child, Adult, Older Adult) |
Sexes Eligible for Study: | All |
Accepts Healthy Volunteers: | No |
Sampling Method: | Non-Probability Sample |
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).
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.

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT01676077
United States, California | |
Stanford University Medical Center | |
Palo Alto, California, United States, 944305 | |
United States, District of Columbia | |
Children's National Medical Center, Neurology Dept | |
Washington, District of Columbia, United States, 20010 | |
United States, Missouri | |
Neurology & Pathology, Washington University, School of Medicine in St Louis | |
Saint Louis, Missouri, United States, 63110 | |
United States, North Carolina | |
Carolinas Medical Center, Neuroscience & Spine Institute, Dept of Neurology | |
Charlotte, North Carolina, United States, 28207 | |
United States, Ohio | |
Neuromuscular Center at the Research Institute of Nationwide Children's Hospital | |
Columbus, Ohio, United States, 43230 | |
Australia, New South Wales | |
The Children's Hospital at Westmead, Institute for Neuroscience and Muscle Research | |
Westmead, Sydney, New South Wales, Australia, 2145 | |
France | |
Centre de Reference des Maladies Neuromusculaires et de la SLA, CHU La Timone | |
Marseille, France, 13005 | |
Institut de Myologie | |
Paris, France, 75013 | |
Germany | |
Muscle Research Unit, ECRC Charite Campus Buch | |
Berlin, Germany, 13125 | |
Friedrich-Baur-Institut | |
Munich, Germany, 80336 | |
Italy | |
Department of Neurosciences, University of Padova | |
Padova, Italy, 35128 | |
Japan | |
National Center of Neurology and Psychiatry | |
Kodaira, Tokyo, Japan, 187-8551 | |
Spain | |
Hospital Sant Pau, Neurology Department | |
Barcelona, Spain, 08041 | |
Hospital Universitario Virgen del Rocio, IBiS, Neurology Department | |
Sevilla, Spain, 41013 | |
United Kingdom | |
Institute of Genetic Medicine, Newcastle University, International Centre for Life | |
Newcastle upon Tyne, United Kingdom, NE1 3BZ |
Principal Investigator: | Kate Bushby, MB ChB MRCP | Newcastle University |
Publications automatically indexed to this study by ClinicalTrials.gov Identifier (NCT Number):
Responsible Party: | Newcastle-upon-Tyne Hospitals NHS Trust |
ClinicalTrials.gov Identifier: | NCT01676077 |
Other Study ID Numbers: |
85750 |
First Posted: | August 30, 2012 Key Record Dates |
Last Update Posted: | March 30, 2017 |
Last Verified: | March 2017 |
LGMD2B Miyoshi Myopathy Dysferlin |
Dysferlinopathy Limb Girdle muscular dystrophy type 2b Muscular Dystrophy |
Muscular Diseases Muscular Dystrophies, Limb-Girdle Musculoskeletal Diseases Neuromuscular Diseases |
Nervous System Diseases Muscular Dystrophies Muscular Disorders, Atrophic Genetic Diseases, Inborn |