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Gene Transfer Clinical Trial for Krabbe Disease
Bu çalışma, FBX-101 adlı bir gen terapisini, infantil (bebeklik dönemi) Krabbe hastalığı (Krabbe disease) olan bebeklerde inceliyor. Çalışmaya, tanısı GALC enzim düzeyi ve genetik bulgularla doğrulanmış, 1 günlük ile 12 aylık arası bebekler alınmakta olup katılımcıların kök hücre nakli (HSCT) için uygun olması gerekmektedir. Çalışma Faz 1/Faz 2 aşamasında yürütülmüş; şu an katılımcı almamakta ancak devam etmektedir (active, not recruiting).
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: 1. Diagnosis of infantile Krabbe disease, characterized by the following criteria outlined below: * Galactocerebrosidase (GALC) activity levels in leukocytes compatible with the diagnosis of Krabbe disease; AND AT LEAST ONE OF THE FOLLOWING: * Elevated psychosine levels predictive of infantile disease onset by DBS; OR * Imaging or neurophysiological findings consistent with Krabbe disease (CSF, MRI, NCV, ABR); OR * Two GALC mutations predictive to result in infantile onset phenotype. 2. Age at the time of screening: 1 day to 12 months 3. Participant has been deemed eligible for treatment with HSCT (standard of care) and a fully myeloablative reduced intensity/toxicity conditioning regimen (RIC/RTC) is/has been used 4. Participant's parents or legal guardian consents to participate in the study and provides informed consent according to IRB guidelines prior to any study procedures being performed 5. Parent(s) and/or legal guardian able to comply with the clinical protocol 6. Participant must have adequate organ function at time of screening as measured by: * Creatinine ≤ 1.5x upper limit of age appropriate normal and creatinine clearance ≥ 60 mL/min/1.73 m2 * Hepatic transaminases (ALT/AST) ≤ 2x age related upper limit of normal * Ejection fraction of \> 50% by echocardiogram or other appropriate study without evidence of pulmonary hypertension * Pulmonary evaluation testing demonstrating resting pulse oximeter \> 95% on room air * Coagulation tests within 110% of normal ranges for age. (PT/INR and PTT) Exclusion Criteria: 1. History of prior treatment with a gene therapy product 2. Presence of major congenital anomaly or any other condition that affects neurodevelopmental function 3. Presence of any neurocognitive deficit or brain damage not attributable to Krabbe disease 4. Active aspiration 5. Signs of active infection or disease from cytomegalovirus, adenovirus or other viruses 6. HIV positive 7. Uncontrolled and progressive bacterial or fungal infection 8. Presence of any contraindication for MRI 9. Use of any investigational product prior to study enrollment or current enrollment in another study that involves clinical interventions 10. Any other medical condition, serious intercurrent illness, or extenuating circumstance that, in the opinion of the PI, would preclude participation in the study 11. Ongoing veno-occlusive disease (VOD) as determined by liver ultrasound (moderate ascites and static or retrograde portal vein flow) the day before FBX-101 infusion.