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This study is looking at the safety of AAVrh10-PCCA, a gene therapy given at different doses, in infants with propionic acidemia. Children aged six months to 2 years with neonatal-onset propionic acidemia and confirmed biallelic mutations in the PCCA gene may take part. The study is in Phase 1 and is currently recruiting participants.
The summary above is a plain-language rendering of the official record. The original English title is shown for reference.
Criteria are reproduced from the ClinicalTrials.gov record in the original English. Only the trial team can determine eligibility.
Inclusion Criteria: * 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 Criteria: * 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.