Eligibility Module
The Eligibility Module contains detailed information about who can participate in the clinical trial. This includes eligibility criteria, age restrictions, gender requirements, healthy volunteer status, and study population descriptions, helping researchers understand who is eligible to participate in the study.
Eligibility Module path is as follows:
Study -> Protocol Section -> Eligibility Module
Eligibility Module
Ignite Creation Date:
2025-12-25 @ 1:38 AM
Ignite Modification Date:
2025-12-25 @ 1:38 AM
NCT ID:
NCT03056794
Eligibility Criteria:
Inclusion Criteria:
1. Low PDC activity in skin fibroblasts, blood lymphocytes or a muscle biopsy, below the reference range, and with valid internal controls to establish sample and assay integrity, and have had PDHA1 testing, and/or
2. A known pathogenic mutation of a gene associated with PDC deficiency.
Relative Subjects Inclusion Criteria:
1\. First or second degree relative of a primary subject for whom genetic testing indicates the presence of variants of unknown significance (VUS).
Exclusion Criteria:
1. Another chronic neurological disease (mitochondrial or non-mitochondrial) which is not considered likely to be related to PDC deficiency.
2. Inadequacy of needed blood or tissue sample and unwillingness or inability to submit such a sample.
3. Unwillingness to participate in the NAMDC Patient Data Registry and Biorepository protocol.
Relative Subjects Exclusion Criteria:
1\. Inadequacy of needed blood sample and unwillingness or inability to submit such a sample.
Healthy Volunteers:
False
Sex:
ALL
Study:
NCT03056794
Study Brief:
Protocol Section:
NCT03056794