NCT07643844

AAVrh10-PCCA Gene Therapy for Propionic Acidemia

Recruiting
PHASE1Ages 6–2InterventionalTreatment
Mayo Clinic
~9 participants
Updated 2026-06-23 on ClinicalTrials.gov
What's tested:AAVrh10-PCCA low doseAAVrh10-PCCA middle doseAAVrh10-PCCA high dose

At a glance

Recruiting sites
1 of 1 listed site is recruiting right now
RecruitingSuspended, closed, or not yet open
What they're measuring
Incidence of treatment-emergent adverse events
Measured over 7 years
Propionic Acidemia
1 sites across 1 states
Minnesota1
  • David R. Deyle, MD · PRINCIPAL_INVESTIGATOR · Mayo Clinic
Clinical Genomics Clinical Research Team
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Eligibility criteria

Inclusion

Age six months to 2 years of age at day of vector infusion. For those \<1 year of age they must have been ≥37 weeks gestational age at the time of birth and without other conditions/comorbidities that in the opinion of the Investigator may interfere with the interpretation of study results.
Confirmed diagnosis of propionic acidemia with biallelic PCCA gene mutations based on molecular genetic testing.
Study participants must have a diagnosis of neonatal-onset propionic acidemia with a documented episode of decompensation that can include any of the following findings: lethargy, poor feeding, irritability, vomiting, encephalopathy, respiratory failure, seizures, coma, metabolic acidosis, lactic acidosis, ketonuria, hypoglycemia, hyperammonemia, and cytopenias or history of recurrent hospitalizations.
Parents or legal guardians of study participants must agree to comply in good faith with the conditions of the study, including attending all of the required baseline and follow-up assessments, and parents or legal guardians must give consent for their child's participation.

Exclusion

Hemoglobin \<10 g/dl
Platelet count \< 100,000 per mm3
Liver Enzyme ALT/AST \>2.5 ULN
Direct Bilirubin \> 1.5
Active viral infection (includes HIV or serology positive for hepatitis B or C).
Previous liver transplant
Subjects with active decompensation as demonstrated by a pH \< 7.3, bicarbonate \< 15 mmol/L, NH3 \> 75 mcmol/L, lactate \> 2.5 mmol/L, urine ketones
Previously received gene therapy or messenger ribonucleic acid (mRNA) treatments for PA.
Grade 3 or 4 heart failure according to the Modified Ross Heart Failure Classification for Children or the New York Heart Association Classification.
Family does not want to disclose patient's study participation with primary care physician and other medical providers.
  • Incidence of treatment-emergent adverse events7 years

    Total number of treatment-emergency adverse events. Adverse events include serious adverse events, lab safety tests, vital signs, and dose-limiting toxicities.