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2023 ACMG Annual Clinical Genetics Meeting Digital ...
First-in-human Phase 1/2 trial of intravenous FBX- ...
First-in-human Phase 1/2 trial of intravenous FBX-101 with Cord Blood Transplantation increases GALC, brain and motor development in Infantile Krabbe
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The document discusses a study on the use of FBX-101, a gene therapy, for the treatment of infantile Krabbe disease (IKD). IKD is a rare neurodegenerative disorder caused by mutations in the GALC gene. The study aims to evaluate the safety and efficacy of FBX-101 in transplanted asymptomatic IKD patients. Two subjects, 01-001 and 01-003, were included in the study.<br /><br />Motor development was delayed in both subjects at baseline. Subject 01-001 showed improvement in motor development after receiving FBX-101, reaching levels within the range of unaffected subjects. Both subjects' motor development improved and is now within the normal range, surpassing patients transplanted for IKD.<br /><br />FBX-101 is an AAV gene therapy that carries the human-GALC gene. Animal studies have shown that FBX-101 can improve central and peripheral nervous system function and increase survival in Krabbe disease models.<br /><br />The RESKUE trial is an open-label, phase 1/2 study evaluating FBX-101 in transplanted asymptomatic IKD patients. The trial involves a single intravenous infusion of FBX-101 21-60 days after hematopoietic stem cell transplantation (HSCT). The primary outcomes of the study include the incidence and severity of adverse events attributed to FBX-101 and the achievement of independent sitting and gross motor function improvements.<br /><br />Data from the first two subjects in the trial demonstrated that FBX-101 has an excellent safety profile, with no serious adverse events. FBX-101 increased GALC enzyme activity in plasma and cerebrospinal fluid, supported normal white matter development, and improved gross motor function. The administration of FBX-101 during the myelo/immune ablative period after HSCT prevented the development of anti-AAVrh10 antibodies.<br /><br />The study concludes that FBX-101 shows promise as a treatment for IKD, providing potential benefits to motor development and brain growth. The study also highlights the importance of newborn screening to ensure early diagnosis and timely treatment for children with IKD.
Asset Subtitle
Presenting Author - Maria L. Escolar, MD, MS; Co-Author - Mark Vander Lugt, MD; Co-Author - Michele Poe, PhD; Co-Author - Melissa Greco, BS; Co-Author - Keith Werling, PhD; Co-Author - Erandi K. De Silva, PhD; Co-Author - Juan Ruiz, MD, PhD, MBA; Co-Author - Paul Szabolcs, MD;
Meta Tag
Brain/Nervous System
Lysosomal Diseases
Therapy
Transplantation
Co-Author
Mark Vander Lugt, MD
Co-Author
Michele Poe, PhD
Co-Author
Melissa Greco, BS
Co-Author
Keith Werling, PhD
Co-Author
Erandi K. De Silva, PhD
Co-Author
Juan Ruiz, MD, PhD, MBA
Co-Author
Paul Szabolcs, MD
Presenting Author
Maria L. Escolar, MD, MS
Keywords
FBX-101
gene therapy
infantile Krabbe disease
GALC gene
safety
efficacy
motor development
RESKUE trial
hematopoietic stem cell transplantation
newborn screening
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