Study
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Study basics
| NameHelpComplete study name. May correspond to name of protocol approved by research ethics committee (e.g. IRB), when applicable. | Beggs Laboratory Congenital Myopathy Research Program |
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| IdentifierHelpIf the study is registered at www.ClinicalTrials.gov, you can find more information by clicking the identifier or by searching the ClinicalTrials.gov database for the identifier. | NCT00272883 on ClinicalTrials.gov |
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| URLHelpURL to a website with more information about the study, where available. Clicking on this URL will open a new tab in your browser. | http://www.childrenshospital.org/research/beggs |
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| Study typeHelpStudies can be of 3 types: Interventional - participants are assigned to receive diagnostic, therapeutic, or other types interventions. Observational - participants are assessed for biomedical or health outcomes. Interventions may be received but are not assigned as part of the study. Expanded Access - investigational new drugs are provided to patients with serious conditions through an FDA-regulated process. See: http://www.clinicaltrials.gov/ct2/help/study_type. This categorization may not be applicable for laboratories that are generating data in order to make technical improvements to a test. | Observational study |
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Study of the congenital myopathies, including nemaline myopathy, centronuclear/myotubular myopathy, multiminicore myopathy/rigid spine muscular dystrophy, and undefined or nonspecific congenital myopathies. Focus on identifying the genes and proteins involved in these conditions, as well as in normal muscle functioning. Seek participation of families with congenital myopathies, including affected individuals and first degree relatives. Participation of affected individuals generally involves providing medical records/information, a blood or saliva sample, and a muscle tissue sample (if available). Participation of relatives involves providing a blood or saliva sample. Referral to a clinical molecular diagnostic laboratory can be arranged for confirmation and reporting of clinically relevant research results.
- Study protocol numberHelpProtocol identification number for studies that are approved by a research ethics committee (e.g., Institutional Review Board).: 03-08-128R
Researchers
| Person responsible for the studyHelpName of the principal investigator or lab director who is ultimately responsible for the conduct of the research. | Alan Beggs, PhD, Lab Director |
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| Study contactHelpThe person designated as the point of contact to answer questions about the study and coordinate enrollment. | Casie Genetti, MS, Certified Genetic counselor, CGC, Genetic Counselor, BeggsLabGC@childrens.harvard.edu, 6179192169 (phone), 617-730-0786 (fax) |
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Laboratory welcomes contact from clinicians as well as patients/families interested in participating in a research study for this condition.
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
