💬In plain words
What the trial is, and whether it could suit you
Propionic acidemia is a genetic metabolic disorder characterized by metabolic acidosis, ketosis, vomiting, lethargy, cognitive impairment, and risk of death. It results from loss of function of the mitochondrial enzyme propionyl-CoA carboxylase and can be due to disease-causing variants in the PCCA gene, leading to accumulation of propionyl-CoA and its toxic metabolites. The purpose of this trial is to evaluate the safety and potential therapeutic benefit of an AAV-based gene therapy for propionic acidemia in patients with genetically confirmed biallelic variants in PCCA.
Sign in to get the eligibility rules as simple questions to take to your doctor.
📋 Eligibility rules (as published)
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.
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