Clinical Outcome Study for Dysferlinopathy (Jain COS)

This study is ongoing, but not recruiting participants.
Sponsor:
Collaborator:
Jain Foundation
Information provided by (Responsible Party):
Professor Kate Bushby, Newcastle University
ClinicalTrials.gov Identifier:
NCT01676077
First received: August 28, 2012
Last updated: April 3, 2014
Last verified: October 2012
  Purpose

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), 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
Dysferlinopathy
LGMD2B
Miyoshi Myopathy

Study Type: Observational
Study Design: Observational Model: Cohort
Time Perspective: Prospective
Official Title: International Clinical Outcome Study for Dysferlinopathy

Resource links provided by NLM:


Further study details as provided by Newcastle-upon-Tyne Hospitals NHS Trust:

Biospecimen Retention:   Samples With DNA

Serum, Plasma, DNA, RNA, Skin fibroblasts


Estimated Enrollment: 150
Study Start Date: September 2012
Estimated Study Completion Date: August 2016
Estimated Primary Completion Date: August 2016 (Final data collection date for primary outcome measure)
Groups/Cohorts
Patients with a genetically confirmed dysferlinopathy

  Show Detailed Description

  Eligibility

Ages Eligible for Study:   10 Years and older
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population

A diagnosis of Limb Girdle Muscular Dystrophy type 2B (LGMD2B), Miyoshi myopathy, or any other clinical diagnosis associated with dysferlinopathies

Criteria

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.
  Contacts and Locations
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, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT01676077

Locations
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
Sponsors and Collaborators
Newcastle-upon-Tyne Hospitals NHS Trust
Jain Foundation
Investigators
Principal Investigator: Kate Bushby, MB ChB MRCP Newcastle University
  More Information

Additional Information:
No publications provided

Responsible Party: Professor Kate Bushby, Action Research Professor in Neuromuscular Genetics, Newcastle University
ClinicalTrials.gov Identifier: NCT01676077     History of Changes
Other Study ID Numbers: 85750
Study First Received: August 28, 2012
Last Updated: April 3, 2014
Health Authority: United Kingdom: National Health Service

Keywords provided by Newcastle-upon-Tyne Hospitals NHS Trust:
LGMD2B
Miyoshi Myopathy
Dysferlin
Dysferlinopathy
Limb Girdle muscular dystrophy type 2b
Muscular Dystrophy

Additional relevant MeSH terms:
Muscular Dystrophies, Limb-Girdle
Muscular Diseases
Muscular Atrophy
Distal Myopathies
Musculoskeletal Diseases
Neuromuscular Diseases
Nervous System Diseases
Neuromuscular Manifestations
Neurologic Manifestations
Atrophy
Pathological Conditions, Anatomical
Signs and Symptoms
Muscular Dystrophies
Muscular Disorders, Atrophic
Genetic Diseases, Inborn

ClinicalTrials.gov processed this record on July 29, 2014