Apertura Gene Therapy Announces Cooperative Research and Development Agreement with Institutes of the NIH to Test Investigational Gene Therapy for Niemann-Pick Disease Type C1

—Cooperative Research and Development Agreement (CRADA) will utilize Apertura's TfR1 CapX™ Capsid—

—Ara Parseghian Medical Research Fund, a non-profit organization dedicated to finding a treatment or cure for Niemann-Pick Type C, will contribute financial support to the research—

NEW YORK, July 9, 2026 /PRNewswire/ -- Apertura Gene Therapy, a biotechnology company developing next-generation AAV capsids for delivering genetic medicines, today announced that it has entered into a Cooperative Research and Development Agreement (CRADA) with the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) and the National Human Genome Research Institute (NHGRI) to test the systemic delivery of an investigational gene therapy for Niemann-Pick Disease Type C1 (NPC1).

Research conducted under the multi-year agreement will use Apertura's TfR1 CapX™, a proprietary AAV capsid that is designed to bind to transferrin receptor 1 (TfR1), cross the blood-brain barrier (BBB), and enable broad distribution to the central nervous system. The Ara Parseghian Medical Research Fund, a non-profit organization dedicated to finding a treatment or cure for NPC1, will contribute financial support to the research.

NPC1 is a rare, lethal, autosomal recessive, lysosomal storage disorder that results from a mutation in the NPC1 gene and causes neurodegeneration in early childhood, progressive cerebellar ataxia, dementia, and often death in adolescence. Biochemically, NPC1 is characterized by the endo-lysosomal storage of unesterified cholesterol and lipids in both the central nervous system and peripheral tissues such as the liver. Compounds known to reduce the accumulation of cholesterol in vitro have been utilized as potential therapies with only modest success. A gene therapy for NPC1 may be an effective strategy if a gene can be delivered to the brain with high efficiency.

The principal goal of the agreement is to advance preclinical development of the intravenous administration and delivery of TfR1 CapX in combination with a therapeutic construct for NPC1.

"Systemic delivery of AAV gene therapies by intravenous administration has significant advantages over other methods of administration due to lower complexity and risks," said Forbes D. Porter, M.D., Ph.D., Senior Investigator of the Section on Molecular Dysmorphology at NICHD and a Principal Investigator of the CRADA. "Our goal is to identify a therapy which significantly slows neurodegeneration in individuals with NPC1, and this collaboration will allow us to explore the potential therapeutic efficacy of systemic administration of this novel AAV capsid."

Research conducted under the CRADA will focus on preclinical development with the goal of progressing the drug product through regulatory review, manufacturing, and toward the clinic.

Andrew Steinsapir, Acting Chief Technology Officer of Apertura Gene Therapy and Gene Therapy Program Lead at Deerfield Management, said: "Apertura is excited to collaborate with NICHD and NHGRI and explore how an investigational gene therapy that uses TfR1 CapX can be delivered intravenously with the goal of treating Niemann-Pick Disease Type C1."

The groups may elect to expand the scope of the testing if the results suggest that the tested construct and capsid combination is suitable for further development through pre-IND and ultimately clinical testing.

"We are thrilled about this partnership. With multiple therapies now approved for NPC disease, our focus is on advancing the next generation of treatments, and we believe gene therapy holds tremendous promise," said Sean Kassen, Ph.D., Director of the Ara Parseghian Medical Research Fund.

About the Ara Parseghian Medical Research Fund (APMRF)

The Ara Parseghian Medical Research Fund (APMRF) at Notre Dame is a non-profit organization dedicated to finding a treatment or cure for Niemann-Pick Type C (NPC) disease — a genetic, cholesterol storage disorder that primarily strikes children with death occurring before or during adolescence. The Parseghian Fund was launched by Cindy and Mike Parseghian, whose three children were diagnosed with NPC in 1994. They named the foundation in honor of Ara Parseghian, the much beloved and well-known Notre Dame Football Coach and grandfather to the children.

About TfR1 CapX™

TfR1 CapX™ is a leading IV-administered, BBB-crossing capsid. Multiple for-profit and non-profit organizations have validated and licensed TfR1 CapX, and other groups are in discussions to license the technology. Clinical readiness has been supported by several preclinical development programs, including regulatory engagement and manufacturing by contract development and manufacturing organizations (CDMOs). TfR1 CapX is a proprietary, second-generation capsid that demonstrates superior CNS delivery compared to Apertura's first-generation capsid, BI-hTFR1. Research on the first-generation BI-hTFR1 capsid was published in Science.

About Apertura Gene Therapy

Apertura Gene Therapy develops genetic medicines and next-generation AAV capsids that engage human-relevant receptors, aiming to enable more effective and selective gene delivery. The company's lead capsid, TfR1 CapX™, leverages human transferrin receptor 1 to enable intravenous delivery to the brain and spinal cord. This established transport mechanism has a strong clinical track record in pediatric and geriatric populations, expanding its potential to treat serious neurological and genetic diseases. Apertura has licensed its next-generation capsids to multiple partners, with several programs expected to enter clinical trials over the next 12 months. Founded in 2021 on technology from the Broad Institute and supported by Deerfield Management, Apertura Gene Therapy is headquartered in New York City. Learn more at aperturagtx.com and follow us on LinkedIn.

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