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China Approves First Domestically Developed Enzyme Replacement Therapy for Gaucher Disease

Orphan DrugDrug ApprovalRare Disease
  • CANbridge Pharmaceuticals has received NMPA approval for velaglucerase-beta (Gaurunning), China's first domestically developed enzyme replacement therapy for Type I and III Gaucher disease in patients aged 12 and above.
  • The pivotal clinical trial demonstrated statistically significant reductions in spleen volume at both 60 U/kg (P<0.0001) and 30 U/kg (P<0.001) doses, meeting its primary efficacy endpoint.
  • Developed in collaboration with WuXi Biologics, Gaurunning represents a breakthrough in rare disease treatment in China, potentially improving accessibility and affordability for the estimated 3,000 Chinese Gaucher disease patients.

NICE Extends Access to Brineura for CLN2 Batten Disease While Seeking Long-term Solution

Rare DiseaseOrphan Drug
  • NICE has secured continued access to cerliponase alfa (Brineura) for current patients and those starting treatment before December 2025, despite not recommending it for routine NHS use due to cost concerns.
  • The enzyme replacement therapy, costing over £500,000 per patient annually, has demonstrated effectiveness in slowing CLN2 progression in the short term, but lacks sufficient long-term efficacy data.
  • NICE, NHS England, and manufacturer BioMarin continue negotiations to reach a sustainable pricing agreement that could extend access to all future patients with this rare, life-limiting condition.

Congenital Hyperinsulinism Pipeline Shows Promise with Multiple Therapies Advancing Through Clinical Development

Rare DiseaseOrphan Drug
  • DelveInsight's analysis reveals 4+ key companies are developing 6+ therapies for congenital hyperinsulinism, with emerging treatments including CRN-04777, HM 15136, RZ358, and dasiglucagon expected to significantly impact the market.
  • Recent regulatory developments include FDA's Breakthrough Therapy Designation for RZ358 in January 2025 and removal of clinical holds in September 2024, while Zealand Pharma received a Complete Response Letter for dasiglucagon in October 2024.
  • The congenital hyperinsulinism market is anticipated to grow with significant CAGR during 2020-2034, driven by increasing disease awareness and research activities, though challenges remain with high treatment costs and diagnostic complexities.

Avadel Pharmaceuticals Appoints Susan Rodriguez as Chief Operating Officer to Drive LUMRYZ Commercial Expansion

Rare DiseaseOrphan Drug
  • Avadel Pharmaceuticals has appointed Susan Rodriguez as Chief Operating Officer to lead commercial strategy and operations for LUMRYZ, the first once-at-bedtime oxybate treatment for narcolepsy.
  • Rodriguez brings over 30 years of life sciences experience, including leadership roles at Ardelyx, Tolmar Pharmaceuticals, and Abbott, with expertise in rare disease commercialization.
  • The appointment comes as Avadel scales to meet increasing patient demand for LUMRYZ and works toward potential label expansion to idiopathic hypersomnia.
  • LUMRYZ has received FDA approval for both adult and pediatric narcolepsy patients and holds 7 years of Orphan Drug Exclusivity due to clinical superiority over existing treatments.

Nanoscope Therapeutics Showcases MCO-010 Optogenetic Therapy Data at ASGCT 2025

Orphan Drug
  • Nanoscope Therapeutics presented multiple research presentations at ASGCT 2025 highlighting the safety and efficacy of MCO-010 optogenetic therapy for retinal degenerative diseases.
  • The company reported positive therapeutic benefits in Stargardt disease patients similar to durable vision gains previously observed in retinitis pigmentosa patients.
  • MCO-010 represents the first mutation-agnostic therapy shown to restore vision in advanced RP patients via a one-time intravitreal injection.
  • The company plans to initiate BLA submission for MCO-010 to treat RP in 2025 following positive Phase 2b RESTORE trial results.

Efficacy and Safety of MCO-010 Optogenetic Therapy in Adults With Retinitis Pigmentosa [RESTORE]

NCT04945772CompletedPhase 2
Nanoscope Therapeutics Inc.
Posted 7/13/2021

Safety and Effects of a Single Intravitreal Injection of vMCO-010 Optogenetic Therapy in Subjects With Stargardt Disease

NCT05417126CompletedPhase 2
Nanoscope Therapeutics Inc.
Posted 7/5/2022

CNS Pharmaceuticals Reports Berubicin Trial Results in Glioblastoma Patients

OncologyOrphan Drug
  • CNS Pharmaceuticals released topline data from a Phase II/III clinical trial evaluating Berubicin versus Lomustine in 252 patients with recurrent Glioblastoma Multiforme.
  • The trial showed Berubicin produced clinically relevant outcomes comparable to Lomustine across multiple endpoints but failed to demonstrate statistically significant improvement in overall survival, the primary endpoint.
  • Despite the mixed results, the company is evaluating potential paths forward for the program in consultation with the FDA, given the limited treatment options for glioblastoma patients.

Neurofibromatoses Pipeline Shows Strong Activity with 12+ Therapies in Development Across Multiple Clinical Stages

Rare DiseaseOrphan Drug
  • DelveInsight's 2025 pipeline report reveals over 10 pharmaceutical companies are actively developing 12+ therapies for neurofibromatoses treatment across various clinical stages.
  • Key developments include Healx Limited's HLX-1502 entering Phase II trials for NF1 patients and Shanghai Fosun Pharmaceutical's FCN-159 advancing to Phase III development.
  • The pipeline features diverse therapeutic approaches including MEK inhibitors, with companies like Pasithea Therapeutics and NFlection Therapeutics contributing novel small molecule candidates.
  • Leading pharmaceutical companies such as Novartis are conducting long-term studies assessing dabrafenib and trametinib effects in pediatric neurofibromatoses patients.

A Study to Test How Well BI 3720931 is Tolerated and Whether it Improves Lung Function in People With Cystic Fibrosis (Lenticlair™ 1)

NCT06515002Active, Not RecruitingPhase 1
Boehringer Ingelheim
Posted 11/4/2024

A Phase 1 Study Evaluating Safety and Tolerability of RCT2100 (in CF mRNA) in Healthy Participants and in Participants With CF

2024-512169-15-00RecruitingPhase 1/2
Recode Therapeutics Inc.
Posted 2/1/2024

FDA Approves Miplyffa for Niemann-Pick Type C Disease, Offering New Hope for Rare Genetic Disorder

Drug ApprovalRare DiseaseOrphan DrugFDA Approval
  • The FDA has approved Miplyffa, a new medication for treating Niemann-Pick Type C (NPC), a fatal genetic disorder affecting approximately 900 people in the United States.
  • Miplyffa works by protecting cells from fat accumulation and slowing disease progression, helping patients maintain neurological function for longer periods.
  • The drug is approved for children over two years old and has shown promising results in early patients, with some experiencing stabilization or improvement in disease markers within three months.
  • NPC is a progressive disorder that typically robs patients of their ability to speak, think clearly, swallow, walk, and move, often affecting children and young adults.

Rafael Holdings Completes $25 Million Rights Offering to Fund Trappsol Cyclo Phase 3 Trial for Rare Disease

Rare DiseaseOrphan Drug
  • Rafael Holdings successfully completed a $25 million rights offering in June 2025, with CEO Howard Jonas backstopping the majority of unsubscribed shares through a private placement.
  • The funding is specifically earmarked for regulatory approval efforts and potential commercial launch of Trappsol Cyclo, pending positive results from the ongoing Phase 3 TransportNPC trial.
  • Trappsol Cyclo is being evaluated as a treatment for Niemann-Pick Disease Type C1, a rare, fatal, and progressive genetic disorder with significant unmet medical need.
  • The company expects net proceeds of approximately $24.9 million after expenses, positioning it for potential regulatory milestones and market entry.

BPGbio's BPM31510 Demonstrates Breakthrough Blood-Brain Barrier Penetration for Mitochondrial Disease Treatment

Rare DiseaseOrphan Drug
  • BPGbio's novel CoQ10 formulation BPM31510 successfully crosses the blood-brain barrier and delivers CoQ10 to the cerebellum, potentially addressing ataxic symptoms in primary CoQ10 deficiency.
  • Advanced spatial quinomics studies in Coq4 KI/KI mice demonstrated significant CoQ10 level increases across multiple critical tissues including brain, kidney, muscle, and heart.
  • The compound has received FDA Rare Pediatric Disease Designation for primary CoQ10 deficiency and shows superior bioavailability compared to standard oral CoQ10 supplements.
  • Preclinical studies revealed BPM31510 preserved cell viability in severely metabolically impaired human cells, while cells treated with CoQ10 alone died within a week.

A Study of BPM31510 With Vitamin K1 in Subjects With Newly Diagnosed Glioblastoma (GB)

NCT04752813Active, Not RecruitingPhase 2
BPGbio
Posted 8/22/2022

BPM31510 in Treating Patients With Recurrent High-Grade Glioma Previously Treated With Bevacizumab

NCT03020602CompletedPhase 1
Seema Nagpal
Posted 1/4/2017

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