Pittsburgh, PANCT03056794Now EnrollingIRB Ready

Pyruvate Dehydrogenase Complex Deficiency Disease Clinical Trial in Pittsburgh, PA

Access cutting-edge pyruvate dehydrogenase complex deficiency disease treatment through this clinical trial at a research site in Pittsburgh. Study-provided care at no cost to qualified participants.

Sponsored by University of Pittsburgh

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Expert Care in Pittsburgh

Access pyruvate dehydrogenase complex deficiency disease specialists at no cost

IRB Approved

This study follows strict safety protocols and ethical guidelines

No-Cost Care

All study-related pyruvate dehydrogenase complex deficiency disease treatment provided free

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Check if you qualify for this pyruvate dehydrogenase complex deficiency disease clinical trial in Pittsburgh, PA

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Why Participate?

  • No-Cost Study Care

  • Local to Pittsburgh

    Convenient for PA residents

  • Cutting-Edge Treatment

    Access to innovative therapies

  • Expert Medical Care

    Close monitoring by specialists

  • Possible Compensation*

    For time and travel

*Compensation varies by study. Confirm details with coordinator.

Simple Process

  1. 1Submit this form
  2. 2Phone screening
  3. 3Visit Pittsburgh site if eligible
  4. 4Begin participation

About This Pyruvate Dehydrogenase Complex Deficiency Disease Study in Pittsburgh

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.

Sponsor: University of Pittsburgh

Who Can Participate

Inclusion Criteria

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
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

Another chronic neurological disease (mitochondrial or non-mitochondrial) which is not considered likely to be related to PDC deficiency.
Inadequacy of needed blood or tissue sample and unwillingness or inability to submit such a sample.
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.

Not sure if you qualify? Submit your interest and a study coordinator will help determine your eligibility.

Frequently Asked Questions

Q:Is this study available in Pittsburgh?

Yes, this clinical trial (NCT03056794) has an active research site in Pittsburgh, PA that is currently enrolling participants.

Q:Is it safe to participate?

Clinical trials follow strict safety guidelines and ethical standards. This study has been reviewed and approved, and participants are closely monitored by medical professionals. You can withdraw at any time.

Q:Will I be compensated?

Many clinical trials offer compensation for your time and travel expenses. Specific compensation details will be discussed during the screening process. All study-related medical care is provided at no cost.

Q:Can I leave the trial if I change my mind?

Absolutely. Participation is completely voluntary. You have the right to withdraw from the study at any time, for any reason, without penalty.

Still have questions? Our study coordinators are here to help.

Pyruvate Dehydrogenase Complex Deficiency Disease Treatment Options in Pittsburgh, PA

If you're searching for pyruvate dehydrogenase complex deficiency disease treatment options in Pittsburgh, PA, this clinical trial (NCT03056794) may be an excellent opportunity. Clinical trials provide access to cutting-edge treatments that aren't yet available to the general public, often at no cost to participants.

Our Pittsburgh research site is actively enrolling participants for this clinical trial. You'll receive care from experienced pyruvate dehydrogenase complex deficiency disease specialists who are at the forefront of medical research. All study-related care, including examinations, treatments, and monitoring, is provided at no cost to qualified participants.

Looking for more options? Browse all pyruvate dehydrogenase complex deficiency disease clinical trials near you to find additional studies recruiting in your area.

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