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An Open-label Study to Investigate ECUR-506 in Male Babies Less Than 9 Months of Age With Neonatal Onset OTC Deficiency
Bu çalışma, yenidoğan döneminde başlayan OTC eksikliği (OTC deficiency) olan 9 aydan küçük erkek bebeklerde ECUR-506 adlı bir gen tedavisini incelemektedir. OTC eksikliği, OTC genindeki değişikliklere bağlı, kanda amonyak yükselmesine yol açan ciddi bir metabolik hastalıktır; çalışmaya genetik olarak doğrulanmış, protein kısıtlaması ve azot temizleyici tedavi alan bebekler alınmaktadır. Çalışma Faz 1/Faz 2 aşamasında yürütülmekte ve 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.
Key Inclusion Criteria: 1. Male sex 2. Gestational or adjusted (corrected) gestational age ≥ 37 weeks 3. Age at screening is 24 hours to 7 months 4. Weight ≥ 3.5 kg and ≤ 13.5 kg at screening 5. Has received age-appropriate vaccinations 6. Genetically confirmed OTCD defined by genetic confirmation of an OTC variant (pathogenic or likely pathogenic) associated with severe neonatal OTCD defined below in Inclusion Criteria #7 or has the same OTC variant as a family member who had severe neonatal OTCD within first week of life. 7. Severe neonatal OTCD defined by hyperammonemic crisis with elevated ammonia level of \>560 μmol/L and clinical symptoms within first week of life, and currently receiving treatment with both dietary protein restriction and nitrogen scavenger therapy. 8. Current or historical biochemical profile consistent with OTCD 9. Participant's parent(s)/LAR must be able to comprehend and be willing to provide a signed IRB/IEC-approved ICF. Key Exclusion Criteria: 1. Neonatal diagnosis of severe to profound Hypoxic Ischemic Encephalopathy due to birth injury 2. Requiring urgent liver transplant due to liver failure as assessed by the PI. 3. Contiguous gene deletion involving the OTC gene and including at least the CYBB gene on the telomeric side or the TSPAN7 gene on the centromeric side. 4. Known or suspected major organ injury/dysfunction/anomalies. 5. Vital sign and laboratory abnormalities outside of reference ranges. 6. Treatment with any other gene therapy or gene editing therapy 7. Co-enrollment in any other study unless approved by the sponsor. 8. Any condition, that in the opinion of the Investigator, would compromise the safety of the participant or study data 9. Documented vertical transmission of HepA/HepB/HepC 10. Documented in-utero teratogen, substance, and/or alcohol exposure, which in the opinion of the Investigator may increase the participant's risk of developmental delays, congenital anomalies, and/or significant medical complications