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An International Clinical Outcome Study of Dysferlinopathy

UCI Specialty Areas: Genetics, Neurology
Principal Investigator: Tahseen Mozaffar
Official Title: An International Clinical Outcome Study of Dysferlinopathy
A Study On:
Brain - Neurologic/ Psychologic
Dysferlinopathy
Myopathy

Study Description

The current protocol builds on existing national and international networks to bring together a critical mass to address the following specific aims:

  1. Define the natural history of dysferlinopathy in a large unselected patient group with respect to age and nature of onset, progression and presence of complications via existing and expanded registries and databases.
  2. Study a selection of possible outcome measures for dysferlinopathy trials over a three year period in a multicentre evaluation of 150 patients based in centres of excellence for muscular dystrophy diagnosis and management.
  3. Extend the existing registry activities coordinated by the Jain Foundation to ensure a comprehensive patient registry for dysferlinopathy, within the TREAT-NMD international registry framework.

Eligibility

  1. 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 less than or equal to 20% of normal level determined by blood monocyte testing. Mutations will be checked for pathogenicity via the UMD bioinformatics tools.
  1. 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 greater than or equal to 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 centers for the participant and a helper (if needed).

  1. Known current or planned medical or other interventions that might interfere with the possibility to undertake the planned tests.
  2. Other concomitant pathology that in the view of the investigator would jeopardize the ability to take part in the protocol.
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University of California, Irvine - Study Information Sheet

UCI Center for Clinical Research Potential Participant Database

Lead Researcher
Eric Vilain, MD, PhD
UCI Center for Clinical Research

In the instance of parental permission, “You” refers to “Your child.”

  • Please read the information below and ask questions about anything that you do not understand. A
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  • You are eligible to participate in this study if you may be interested in participating in a research trial at UCI Health
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  • Future Research Use
    Researchers will use your information to conduct this study. Once the study is done using your information, we may share them with other researchers so they can use them for other studies in the future. We will not share your name or any other private identifiable information that would let the researchers know who you are. We will not ask you for additional permission to share this de-identified information
  • Data Retention - In accordance with UC Office of the President policy, information will be retained for 10 years after the end of the calendar year in which the research is completed.
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What is an IRB? An Institutional Review Board (IRB) is a committee made up of scientists and nonscientists. The IRB’s role is to protect the rights and welfare of human subjects involved in research. The IRB also assures that the research complies with applicable regulations, laws, and institutional policies. UCI