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Clinical Outcome Study for Dysferlinopathy (Jain COS)

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 evaluated by the U.S. Federal Government. Read our disclaimer for details.
ClinicalTrials.gov Identifier: NCT01676077
Recruitment Status : Active, not recruiting
First Posted : August 30, 2012
Last Update Posted : July 26, 2022
Jain Foundation
Information provided by (Responsible Party):
Newcastle-upon-Tyne Hospitals NHS Trust

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.

Condition or disease
Dysferlinopathy LGMD2B Now Classified as LGMDR2 Miyoshi Myopathy

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Study Type : Observational
Estimated Enrollment : 200 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: International Clinical Outcome Study for Dysferlinopathy
Actual Study Start Date : September 2012
Estimated Primary Completion Date : March 2024
Estimated Study Completion Date : March 2024

Patients with a genetically confirmed dysferlinopathy

Primary Outcome Measures :
  1. North Star assessment for limb girdle-type muscular dystrophies (NSAD) [ Time Frame: 24 months ]
    A functional scale that will be used to measure motor performance in individuals with LGMD

Biospecimen Retention:   Samples With DNA
Serum, Plasma, DNA, RNA, Skin fibroblasts, Urine

Information from the National Library of Medicine

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.

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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
Study Population
A diagnosis of Limb Girdle Muscular Dystrophy type 2B (LGMD2B/ LGMDR2), Miyoshi myopathy, or any other clinical diagnosis associated with dysferlinopathies

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).

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.

Information from the National Library of Medicine

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

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United States, California
UC Irvine
Orange, California, United States
Stanford University Medical Center
Palo Alto, California, United States, 944305
United States, Missouri
Neurology & Pathology, Washington University, School of Medicine in St Louis
Saint Louis, Missouri, United States, 63110
United States, New York
Columbia University Medical Centre
New York, New York, United States
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
Clinica Davila
Santiago, Chile
Rigshospitalet Neuromusculaer Klinik
Copenhagen, Denmark
Institut de Myologie
Paris, France, 75013
Department of Neurosciences, University of Padova
Padova, Italy, 35128
National Center of Neurology and Psychiatry
Kodaira, Tokyo, Japan, 187-8551
Korea, Republic of
Pusan National University Hospital
Busan, Korea, Republic of
Hospital Sant Pau, Neurology Department
Barcelona, Spain, 08041
Hospital Universitario Donostia
San Sebastián, Spain
Hospital Universitario Virgen del Rocio, IBiS, Neurology Department
Sevilla, Spain, 41013
United Kingdom
Institute of Translational and Clinical Research, Newcastle University, International Centre for Life
Newcastle upon Tyne, United Kingdom, NE1 3BZ
Sponsors and Collaborators
Newcastle-upon-Tyne Hospitals NHS Trust
Jain Foundation
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Principal Investigator: Volker Straub Newcastle University
Principal Investigator: Meredith K James Newcastle University
Additional Information:
Publications automatically indexed to this study by ClinicalTrials.gov Identifier (NCT Number):
Moore U, Jacobs M, James MK, Mayhew AG, Fernandez-Torron R, Feng J, Cnaan A, Eagle M, Bettinson K, Rufibach LE, Lofra RM, Blamire AM, Carlier PG, Mittal P, Lowes LP, Alfano L, Rose K, Duong T, Berry KM, Montiel-Morillo E, Pedrosa-Hernández I, Holsten S, Sanjak M, Ashida A, Sakamoto C, Tateishi T, Yajima H, Canal A, Ollivier G, Decostre V, Mendez JB, Sánchez-Aguilera Praxedes N, Thiele S, Siener C, Shierbecker J, Florence JM, Vandevelde B, DeWolf B, Hutchence M, Gee R, Prügel J, Maron E, Hilsden H, Lochmüller H, Grieben U, Spuler S, Tesi Rocha C, Day JW, Jones KJ, Bharucha-Goebel DX, Salort-Campana E, Harms M, Pestronk A, Krause S, Schreiber-Katz O, Walter MC, Paradas C, Hogrel JY, Stojkovic T, Takeda S, Mori-Yoshimura M, Bravver E, Sparks S, Díaz-Manera J, Bello L, Semplicini C, Pegoraro E, Mendell JR, Bushby K, Straub V; Jain COS Consortium. Assessment of disease progression in dysferlinopathy: A 1-year cohort study. Neurology. 2019 Jan 9. pii: 10.1212/WNL.0000000000006858. doi: 10.1212/WNL.0000000000006858. [Epub ahead of print]
Diaz-Manera J, Fernandez-Torron R, LLauger J, James MK, Mayhew A, Smith FE, Moore UR, Blamire AM, Carlier PG, Rufibach L, Mittal P, Eagle M, Jacobs M, Hodgson T, Wallace D, Ward L, Smith M, Stramare R, Rampado A, Sato N, Tamaru T, Harwick B, Rico Gala S, Turk S, Coppenrath EM, Foster G, Bendahan D, Le Fur Y, Fricke ST, Otero H, Foster SL, Peduto A, Sawyer AM, Hilsden H, Lochmuller H, Grieben U, Spuler S, Tesi Rocha C, Day JW, Jones KJ, Bharucha-Goebel DX, Salort-Campana E, Harms M, Pestronk A, Krause S, Schreiber-Katz O, Walter MC, Paradas C, Hogrel JY, Stojkovic T, Takeda S, Mori-Yoshimura M, Bravver E, Sparks S, Bello L, Semplicini C, Pegoraro E, Mendell JR, Bushby K, Straub V; Jain COS Consortium. Muscle MRI in patients with dysferlinopathy: pattern recognition and implications for clinical trials. J Neurol Neurosurg Psychiatry. 2018 Oct;89(10):1071-1081. doi: 10.1136/jnnp-2017-317488. Epub 2018 May 7.

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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: July 26, 2022
Last Verified: July 2022
Keywords provided by Newcastle-upon-Tyne Hospitals NHS Trust:
Miyoshi Myopathy
Limb Girdle muscular dystrophy type 2b
Muscular Dystrophy
Additional relevant MeSH terms:
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Muscular Diseases
Muscular Dystrophies, Limb-Girdle
Musculoskeletal Diseases
Neuromuscular Diseases
Nervous System Diseases
Muscular Dystrophies
Muscular Disorders, Atrophic
Genetic Diseases, Inborn