Rare Disease Trial, Recruiting (NCT03056794)

Rare Disease Trial, Recruiting NCT03056794 Sponsor: University of Pittsburgh Condition: Rare Disease

Printed from Voxsanity (voxsanity.com.au) — NCT03056794 — Data sourced from ClinicalTrials.gov. Verify directly with the trial site before attending. Not medical advice.

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Who may be able to join

AI generated eligibility summary. Written by an AI model from the official source data and checked on a sample basis. It can contain mistakes, so confirm anything important against the original source. How we use AI

Who might be able to join this trial:

Your doctor has found that a specific enzyme in your cells (called PDC) is working at a lower level than normal, confirmed through a skin, blood, or muscle sample with proper testing, including a specific gene test (PDHA1)
You have a known genetic change (mutation) in a gene linked to a condition called PDC deficiency
For family members: You are a parent, child, sibling, grandparent, grandchild, aunt, uncle, niece, or nephew of someone already in the study, and genetic testing has found a change in your genes that may or may not be significant (confirm with trial site)

Who may not be able to join:

You have another long-term neurological (brain or nervous system) condition that is not thought to be connected to PDC deficiency
The blood or tissue sample needed for the study cannot be collected, or you are unwilling or unable to provide one
You are unwilling to have your health information and samples stored in a national patient data registry and biorepository (a type of medical database and sample bank)
For family members: The blood sample needed cannot be collected, or you are unwilling or unable to provide one

Important: Always verify eligibility with the trial site directly before applying.

Based on publicly available eligibility criteria from ClinicalTrials.gov. Verify directly with the trial site before acting. This is not medical advice.

This is a simplified plain English summary of the eligibility criteria. Full criteria are set by the trial investigators and may include additional requirements not shown here. Never self-exclude from a trial based on this summary. Contact the trial site directly to confirm your eligibility.

Last synced 28 July 2026

This study is not part of the standard drug-approval phase pathway (for example an observational, device, behavioural, or registry study), so a phase success rate does not apply.

Contact this trial

Principal Investigator: Jirair K. Bedoyan, MD, PhD, University of Pittsburgh

Phone: 412-692-7594

Contact details sourced from ClinicalTrials.gov. Verify directly with the trial site before attending.

GP referral letter

Print a one-page summary to share with your doctor.

Voxsanity

Clinical trials and treatments, explained plainly · voxsanity.com.au

Date:

To: My Doctor

Re: Clinical trial enquiry

I am writing to enquire about the following clinical trial which may be relevant to my care:

Trial: NCT03056794

Sponsor: University of Pittsburgh

Phase: Not Applicable

Status: Recruiting

Condition: Rare Disease

Trial contact: 412-692-7594

More information: https://clinicaltrials.gov/study/NCT03056794

Eligibility summary (AI generated)

Written by an AI model from ClinicalTrials.gov eligibility criteria and checked on a sample basis. Please confirm against the original criteria.

Who might be able to join this trial:

Your doctor has found that a specific enzyme in your cells (called PDC) is working at a lower level than normal, confirmed through a skin, blood, or muscle sample with proper testing, including a specific gene test (PDHA1)
You have a known genetic change (mutation) in a gene linked to a condition called PDC deficiency
For family members: You are a parent, child, sibling, grandparent, grandchild, aunt, uncle, niece, or nephew of someone already in the study, and genetic testing has found a change in your genes that may or may not be significant (confirm with trial site)

Who may not be able to join:

You have another long-term neurological (brain or nervous system) condition that is not thought to be connected to PDC deficiency
The blood or tissue sample needed for the study cannot be collected, or you are unwilling or unable to provide one
You are unwilling to have your health information and samples stored in a national patient data registry and biorepository (a type of medical database and sample bank)
For family members: The blood sample needed cannot be collected, or you are unwilling or unable to provide one

Important: Always verify eligibility with the trial site directly before applying.

Access in Australia: A treatment being studied in a clinical trial is generally not yet listed on the PBS. Where a medicine is not approved or not available through a trial, the TGA Special Access Scheme may allow a doctor to access unapproved therapeutic goods for individual patients. See voxsanity.com.au/sas-navigator/ for a plain English explainer.

This information was sourced from ClinicalTrials.gov via Voxsanity (data last synced 28 July 2026). It is not medical advice. Please verify the trial's current status directly with the trial site before acting.

Trial details

Status

Recruiting

Phase

Not Applicable

Sponsor

University of Pittsburgh

Registry

ClinicalTrials.gov

Start date

1 September 2015

Est. completion

1 September 2026

Where this trial is recruiting

🇺🇸 United States

Primary endpoints

Survival outcomes in pyruvate dehydrogenase deficiency disease

Can't join this trial?

Expanded access pathways

If this trial is not available to you, other access pathways may exist. In Australia, the TGA Special Access Scheme allows access to unapproved therapeutic goods for individual patients.

TGA Special Access Scheme information

Find other recruiting trials on ClinicalTrials.gov

Data last synced from ClinicalTrials.gov: 28 July 2026. Trial status can change. Always verify current status directly with the trial site before making any decision.

Trial recruitment status can change without notice between our nightly data updates. Always contact the trial site directly to confirm current recruitment status before making any decisions or travel arrangements.

View original record on ClinicalTrials.gov