Natural History and Advanced Genetic Study of Pyruvate Dehydrogenase Complex Deficiencies

Description

Children and adults with pyruvate dehydrogenase complex deficiency (PDCD) are participating in a research study seeking to better understand the genetic causes, symptoms, usefulness of current treatments, and outcomes for these disorders. The research project involves completing a questionnaire about the individual or family's medical history and experiences with PDCD, review of medical records by the researchers, and in some cases, advanced genetic testing.

Conditions

Pyruvate Dehydrogenase Complex Deficiency Disease

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Study Overview

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Study Details

Study overview

Children and adults with pyruvate dehydrogenase complex deficiency (PDCD) are participating in a research study seeking to better understand the genetic causes, symptoms, usefulness of current treatments, and outcomes for these disorders. The research project involves completing a questionnaire about the individual or family's medical history and experiences with PDCD, review of medical records by the researchers, and in some cases, advanced genetic testing.

Natural History and Advanced Genetic Study of Pyruvate Dehydrogenase Complex Deficiencies (North American Mitochondrial Disease Consortium, Rare Diseases Clinical Research Network, Project 7413)

Natural History and Advanced Genetic Study of Pyruvate Dehydrogenase Complex Deficiencies

Condition
Pyruvate Dehydrogenase Complex Deficiency Disease
Intervention / Treatment

-

Contacts and Locations

Pittsburgh

University of Pittsburgh, Pittsburgh, Pennsylvania, United States, 15260

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

For general information about clinical research, read Learn About Studies.

Eligibility 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.
  • 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.

Ages Eligible for Study

to

Sexes Eligible for Study

ALL

Accepts Healthy Volunteers

No

Collaborators and Investigators

University of Pittsburgh,

Jirair K. Bedoyan, MD, PhD, PRINCIPAL_INVESTIGATOR, University of Pittsburgh

Study Record Dates

2025-08