Beren Therapeutics is seeking approval in Neimann-Pick disease type C, an application the FDA was set to decide on by August 17. The new target action date is November 17.

Original title: “FDA delays verdict on Beren’s rare disease drug by three months”

identification of serum protein biomarkers in individuals with niemann pick disease type c1

Original title: “Identification of serum protein biomarkers in individuals with Niemann-Pick disease, type C1.”

2025 consensus clinical management guidelines for niemann pick disease type c

Original title: “2025 Consensus Clinical Management Guidelines for Niemann-Pick Disease Type C.”

curcumin controls lysosomal acidification and exocytosis to ameliorate lysosomal cholesterol accumulation in niemann pick type c disease

Original title: “Curcumin controls lysosomal acidification and exocytosis to ameliorate lysosomal cholesterol accumulation in Niemann-Pick type C disease.”

differential trafficking phenotypes of npc1 mutant proteins reveal distinct cholesterol accumulation profiles

Original title: “Differential Trafficking Phenotypes of NPC1 Mutant Proteins Reveal Distinct Cholesterol Accumulation Profiles.”

molecular and histological characterizations reveal two distinct senescent microglia populations in niemann pick disease type c mouse model

Original title: “Molecular and histological characterizations reveal two distinct senescent microglia populations in Niemann-Pick disease type C mouse model.”

small molecules to elevate rab7 gtpase activity and lower cholesterol accumulation in niemann pick type c disease

Original title: “Small Molecules to Elevate Rab7-GTPase Activity and Lower Cholesterol Accumulation in Niemann-Pick Type C Disease.”

Several rare disease patient populations received their first-ever FDA-approved drug since Rare Disease Day last year, signifying progress in closing treatment gaps for rare disease. Patients with Neimann-Pick disease, type C (NPC), received their first FDA-approved treatment in September.1 Children with the rare genetic condition live for an average of 13 years and experience progressive neurological symptoms. In combination with miglustat, arimoclomol aims to mitigate the neurological symptoms of NPC with an indication for patients at least 2 years old. Days after Zevra Therapeutics’ arimoclomol approval, IntraBio’s levacetylleucine (Aqneursa) was approved for the treatment of neurological symptoms associated with the condition in patients weighing at least 15 kg.2 According to Laurie Turner, family services manager at the National Niemann-Pick Disease Foundation, the approval of these therapies represents a "tremendous milestone" for a community that has been without FDA-approved options for too long. Now, physicians and patients living with this progressive multisystemic disorder have a safe and effective treatment option to help mitigate the condition's impact on their quality of life. Following priority review, orphan drug, rare pediatric disease, and regenerative medicine advanced therapy approvals, pediatric patients with metachromatic leukodystrophy gained an FDA-approved Following a conditioning regimen of high-dose chemotherapy, arsa-cel is designed to slow disease progression and is administered in a single infusion. The FDA decision was based on data from 2 trials and an expanded access program evaluating the therapy's safety and effectiveness, with a primary end point of severe motor impairment-free survival. Prior to April, patients living with warts, hypogammaglobulinemia, infections, and myelokathexis (WHIM syndrome) lacked an FDA-approved treatment option, making mavorixafor capsules (Xolremdi; X4 Pharmaceuticals) the first approved therapy for patients 12 years and older.3 The selective CXC chemokine receptor 4 (CXCR4) antagonist was designed to increase the number of circulating mature neutrophils and lymphocytes to address the pathway dysfunction causing the rare and chronic neutropenic disorder. Traditionally, care for patients with WHIM syndrome has been supportive, aimed at managing symptoms, instead of targeting the CXCR4 pathway, according to Teresa K. Tarrant, MD, associate professor of medicine, rheumatology, and immunology at Duke University School of Medicine, and lead investigator of the phase 3 clinical trial, 4WHIM (NCT03995108), that bolstered the agency's decision.

Original title: “5 Rare Diseases That Now Have Their First FDA-Approved Treatments | AJMC”