Maria Escolar, MD, on the Importance of Newborn Screening for Treating Krabbe Disease
The chief medical officer of Forge Biologics discussed how expanded newborn screening practices may help the company’s gene therapy for Krabbe disease, FBX-101, reach more patients.
This is the second part of an interview with Maria Escolar, MD. For the first part, click here.
“[W]e will be screening about 2 and a half million out of the 3 and a half million births in the United States... This is super important because the transplant only works when you're presymptomatic.”
On January 30, 2024, Forge Biologics’ CEO and president, Timothy J. Miller, PhD, made a comment during a public meeting of the Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC), supporting the addition of Krabbe disease to the national Recommended Uniform Screening Panel (RUSP).1 The same day, the ACHDNC voted 10 to 3 to recommend the addition of Krabbe disease to RUSP, a move that will lead to screening for Krabbe disease becoming standard practice in several additional states in the United States.2 Prior to this move, Krabbe disease was part of standard newborn screening procedures in just 11 states in the US.1 Newborn screening allows for the earlier diagnosis of Krabbe disease, prior to the onset of symptoms, at which point treatment with standard of care (SOC) stem cell transplant is more likely to be effective in treating the disease. Notably, expanded newborn screening may also allow more patients to participate in the phase 1/2 REKLAIM clinical trial (NCT05739643), a study evaluating Forge Biologics’ investigational adeno-associated virus (AAV) vector-based gene therapy FBX-101 for Krabbe disease.3 FBX-101 is intended to be administered in combination with SOC stem cell transplant to further improve outcomes for patients with Krabbe disease.
Promising data from the first 5 patients treated with the gene therapy in REKLAIM were recently presented by Maria Escolar, MD, the chief medical officer of Forge Biologics, at the American Society of Gene & Cell Therapy (ASGCT) 27th Annual Meeting, held May 7 to 10, 2024, in Baltimore, MD. In an interview with CGTLive® after her presentation, Escolar discussed the importance of expanded newborn screening to the company’s future plans for the clinical trial and emphasized that the ACHDNC’s decision may allow more patients to receive treatment in the study. She also spoke about future plans for the evaluation of FBX-101 and the potential to use a similar approach for other diseases that currently have transplant as a SOC.
Click here to view more coverage of the 2024 ASGCT Annual Meeting.
REFERENCES
1. Forge Biologics announces positive FBX-101 clinical trial update in patients with Krabbe disease identified by newborn screening ahead of RUSP vote. News release. Forge Biologics. January 29, 2024. Accessed May 22, 2024. https://www.forgebiologics.com/forge-biologics-announces-positive-fbx-101-clinical-trial-update-in-patients-with-krabbe-disease-identified-by-newborn-screening-ahead-of-rusp-vote/
2. U.S. panel adds rare brain disease to newborn screening list, after push from families. News article. Quinn Eastman. Science. February 2, 2024. Accessed May 22, 2024. https://www.science.org/content/article/u-s-panel-adds-rare-brain-disease-newborn-screening-list-after-push-families
3. Escolar ML, Poe M, Ruiz J, et al. REKLAIM, a phase Ib clinical trial using a novel immune modulation strategy for systemic administration of FBX-101 (AAVrh10.GALC) after umbilical cord blood transplantation for the treatment of infantile Krabbe disease. Presented at: ASGCT Annual Meeting 2024, May 7-10; Baltimore, Maryland. Late-Breaking Abstracts #8.
OPMD and Advancements in Genetic Research
April 22nd 2025Matthew Wicklund, MD, a professor of neurology at the University of Texas Health Science Center San Antonio, discussed the genetic basis of oculopharyngeal muscular dystrophy, as well as the primary challenges in diagnosing and treating the condition.
