DNA, which has a double-helix construction, can have many genetic mutations and variations. Credit score: NIH
Analysis that was carried out by Baylor School of Drugs and Texas Kids’s Hospital medical doctors has led to the U.S. Meals and Drug Administration (FDA) granting Orphan Drug Designation to a remedy for developmental and epileptic encephalopathy (DEE) as a result of syntaxin-binding protein 1 (STXBP1) mutations.
The remedy was developed by Capsida Biotherapeutics and known as CAP-002. DEE attributable to STXBP1 mutations is estimated to have an effect on as much as one in 26,000 kids globally. It’s related to treatment-resistant seizures, extreme developmental delay and mental incapacity, motor abnormalities, and sudden surprising demise in epilepsy (SUDEP).
“Receiving Orphan Drug Designation is an important milestone for our program, and for the patients and families affected by STXBP1 developmental and epileptic encephalopathy,” mentioned Peter Anastasiou, Chief Government Officer of Capsida Biotherapeutics.
“There aren’t any disease-modifying therapies obtainable for this devastating dysfunction, and FDA’s granting ODD alerts the numerous potential that CAP-002 demonstrates based mostly on non-clinical information.
CAP-002 is a novel, first-in-class IV-administered gene remedy designed to attain brain-wide neuronal expression of the STXBP1 protein whereas considerably detargeting the liver. It’s at present in IND-enabling research.
In grownup mice missing one purposeful copy of the STXBP1 gene, IV administration of the gene encoding STXBP1 rescues key phenotypic defects together with seizures, motor deficits, and cognitive impairments, in a dose-dependent method with long-lasting results.
Research performed by Capsida and Dr. Mingshan Xue, affiliate professor of neuroscience, molecular and human genetics at Baylor, in addition to a member of the Cain Basis Laboratories and the Duncan Neurological Analysis Institute at Texas Kids’s Hospital, confirmed that the dose-dependent rescue of those neurological phenotypes was depending on supplementation of STXBP1 in neurons all through the mind and at ranges not achievable by wild-type serotypes, corresponding to AAV9.
“This milestone moves us one step closer to our goal of transforming the lives of people living with STXBP1 developmental and epileptic encephalopathy,” mentioned Swati Tole, M.D., Chief Medical Officer at Capsida. “We are committed to advancing CAP-002, with our IND filing in the first half of 2025, and bringing novel gene therapies to people with high unmet medical needs.”
The FDA’s Orphan Drug Designation is meant to encourage the event of therapies for uncommon illnesses, outlined as these affecting fewer than 200,000 individuals in america.
ODD might shorten the scientific improvement path by nearer FDA collaboration and potential qualification for expedited improvement packages. This designation additionally supplies the corporate with sure advantages, together with tax credit for certified scientific trials, exemption from consumer charges, and potential seven-year market exclusivity upon FDA approval.
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FDA grants orphan drug designation to potential remedy of STXBP1 developmental and epileptic encephalopathy (2024, November 15)
retrieved 16 November 2024
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