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AAVrh10-PCCA Gene Therapy for Propionic Acidemia
Bu çalışma, AAVrh10-PCCA adlı bir gen terapisinin (farklı dozlarda) propiyonik asidemi (propionic acidemia) olan bebeklerdeki güvenliliğini incelemektedir. Çalışmaya, PCCA geninde iki alelde de mutasyonu doğrulanmış, yenidoğan döneminde başlayan propiyonik asidemi tanılı, altı ay ile 2 yaş arası çocuklar katılabilmektedir. Çalışma Faz 1 aşamasında yürütülmekte olup halen katılımcı almaktadır.
Yukarıdaki özet, resmî kaydın sade dile aktarılmış halidir. Orijinal İngilizce başlık referans için gösterilir.
Kriterler ClinicalTrials.gov kaydından orijinal İngilizce haliyle alınmıştır. Uygunluk kararını yalnızca deneyi yürüten ekip verebilir.
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.