RECRUITING

Natural History and Advanced Genetic Study of Pyruvate Dehydrogenase Complex Deficiencies

Study Overview

This clinical trial focuses on testing the efficacy of different digital interventions to promote re-engagement in cancer-related long-term follow-up care for adolescent and young adult (AYA) survivors of childhood cancer.

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.

Official Title

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

Quick Facts

Study Start:2015-09
Study Completion:2025-08
Study Type:Not specified
Phase:Not Applicable
Enrollment:Not specified
Status:RECRUITING

Study ID

NCT03056794

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.

Ages Eligible for Study:Not specified
Sexes Eligible for Study:ALL
Accepts Healthy Volunteers:No
Standard Ages:CHILD, ADULT, OLDER_ADULT
Inclusion CriteriaExclusion Criteria
  1. 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. 2. A known pathogenic mutation of a gene associated with PDC deficiency.
  1. 1. Another chronic neurological disease (mitochondrial or non-mitochondrial) which is not considered likely to be related to PDC deficiency.
  2. 2. Inadequacy of needed blood or tissue sample and unwillingness or inability to submit such a sample.
  3. 3. Unwillingness to participate in the NAMDC Patient Data Registry and Biorepository protocol.

Contacts and Locations

Study Contact

Danielle Black, MPH
CONTACT
412-692-6893
danielle.black@chp.edu
Jirair K. Bedoyan, MD, PhD
CONTACT
412-692-6893
bedoyanjk@upmc.edu

Principal Investigator

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

Study Locations (Sites)

University of Pittsburgh
Pittsburgh, Pennsylvania, 15260
United States

Collaborators and Investigators

Sponsor: University of Pittsburgh

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

Study Record Dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Registration Dates

Study Start Date2015-09
Study Completion Date2025-08

Study Record Updates

Study Start Date2015-09
Study Completion Date2025-08

Terms related to this study

Keywords Provided by Researchers

  • pyruvate
  • pyruvate dehydrogenase
  • PDC
  • PDCD

Additional Relevant MeSH Terms

  • Pyruvate Dehydrogenase Complex Deficiency Disease