MedPath

Tagged News

US Orphan Drug Market Poised to Exceed $190 Billion by 2030 as FDA Designations Accelerate Rare Disease Therapy Development

Orphan DrugRare DiseaseDrug Approval
  • The US orphan drug market is projected to surpass $190 billion by 2030, driven by increasing demand for rare disease therapies and regulatory incentives.
  • More than 850 FDA-designated orphan drugs are currently in clinical trials, with over 500 already approved for clinical use in the United States.
  • Recent FDA orphan drug designations include Transpire Bio's TRB-ILD1 for idiopathic pulmonary fibrosis and TRB-ONC1 for glioblastoma, along with Minovia Therapeutics' MNV-201 for myelodysplastic syndrome.

Gene Therapy Achieves 95% Success Rate in Treating Children with Rare Immune Disorder ADA-SCID

Rare Disease
  • Experimental gene therapy restored immune function in 59 of 62 children with ADA-SCID, achieving 100% overall survival and 95% event-free survival over a mean follow-up of 7.5 years.
  • The lentiviral vector-based treatment showed superior safety compared to previous gamma-retroviral approaches, with no cases of leukemia or serious genotoxic complications reported.
  • Cryopreserved stem cells demonstrated equivalent efficacy to fresh preparations, enabling centralized manufacturing and broader accessibility for patients worldwide.
  • The therapy is advancing toward FDA approval within 2-3 years, positioning it as a potentially curative first-line treatment for this rare "bubble boy" syndrome.

Novo Nordisk Acquires Zaltenibart from Omeros for Up to $2.1 Billion to Target Rare Blood and Kidney Disorders

Monoclonal AntibodyRare Disease
  • Novo Nordisk announced an asset purchase and license agreement to acquire exclusive global rights to zaltenibart from Omeros Corporation for up to $2.1 billion, including $340 million in upfront and near-term milestone payments.
  • Zaltenibart is an investigational humanized monoclonal antibody targeting MASP-3, showing positive trial data in paroxysmal nocturnal hemoglobinuria and potential applications across rare blood and kidney disorders.
  • Following the transaction closure expected in Q4 2025, Novo Nordisk plans to initiate a global phase 3 program for zaltenibart in PNH and explore development for other rare blood and kidney conditions.
  • The deal represents Novo Nordisk's strategic expansion into rare disease therapeutics, building on their previous commitment to invest $1.2 billion in new production facilities in Denmark.

UK's Innovative Licensing and Access Pathway Awards First Innovation Passports to Three Rare Disease Therapies

Rare DiseaseOrphan Drug
  • Three investigational therapies targeting rare diseases have become the first recipients of Innovation Passports under the UK's new Innovative Licensing and Access Pathway (ILAP), designed to accelerate promising medicines to NHS patients.
  • The selected therapies include treatments for neonatal onset ornithine transcarbamylase deficiency, Duchenne muscular dystrophy affecting 1 in 3,500-5,000 boys, and a rare pediatric neurodegenerative condition.
  • ILAP represents a world-first end-to-end pathway where healthcare developers, regulators, the NHS, and health technology assessment bodies collaborate from the earliest development stages.
  • The pathway addresses critical unmet needs in rare disease treatment, where 5,000-8,000 rare conditions collectively affect 3 million people in the UK but often lack effective therapies.

Krystal Biotech Receives FDA Platform Technology Designation for HSV-1 Gene Therapy Vector

Rare Disease
  • Krystal Biotech received FDA platform technology designation for its genetically modified HSV-1 viral vector used in KB801 gene therapy for neurotrophic keratitis.
  • The designation recognizes the reproducibility and scalability of Krystal's HSV-1 gene delivery platform and may provide development efficiencies.
  • KB801 is designed to enable sustained nerve growth factor expression in the eye, potentially reducing treatment burden compared to current six-times-daily NGF drops.
  • The company can leverage manufacturing and safety data from its FDA-approved VYJUVEK gene therapy to accelerate pipeline development.

A Gene Transfer Therapy Study to Evaluate the Safety of SRP-9004 (Patidistrogene Bexoparvovec) in Participants With Limb-Girdle Muscular Dystrophy, Type 2D (LGMD2D)

NCT01976091CompletedPhase 1
Sarepta Therapeutics, Inc.
Posted 2/1/2015

A Study Assessing KB801 for the Treatment of Stage 2 or 3 Neurotrophic Keratitis

NCT06999733RecruitingPhase 1
Krystal Biotech, Inc.
Posted 5/1/2025

BioCryst Acquires Astria Therapeutics for $700 Million to Expand Hereditary Angioedema Treatment Portfolio

Monoclonal AntibodyRare Disease
  • BioCryst Pharmaceuticals announced a $700 million cash-and-stock acquisition of Astria Therapeutics, representing a 54% premium over Astria's closing price.
  • The deal centers on Astria's lead candidate navenibart, a long-acting injectable monoclonal antibody in Phase 3 trials for hereditary angioedema prophylaxis.
  • BioCryst aims to offer both oral and injectable treatment options for HAE patients, combining navenibart with its existing oral therapy Orladeyo.
  • The transaction is expected to close in Q1 2026, with Astria shareholders receiving $8.55 cash plus 0.59 BioCryst shares per share.

Abeona Therapeutics' ABO-503 Gene Therapy Selected for FDA's Rare Disease Endpoint Advancement Pilot Program

Rare Disease
  • The FDA has selected Abeona Therapeutics' ABO-503 gene therapy for X-linked retinoschisis (XLRS) to participate in its highly competitive Rare Disease Endpoint Advancement (RDEA) Pilot Program.
  • The program provides enhanced communication and collaboration opportunities with the FDA to accelerate development and validation of novel efficacy endpoints for rare disease treatments.
  • ABO-503 has demonstrated preclinical efficacy in mouse models, showing structural and functional improvements including restored retinal architecture and improved visual function.
  • XLRS affects an estimated 35,000 patients in the United States and Europe combined, with no currently approved disease-modifying therapies available.

Phase 3, Open-label Clinical Trial of EB-101 for the Treatment of Recessive Dystrophic Epidermolysis Bullosa (RDEB)

NCT04227106CompletedPhase 3
Abeona Therapeutics, Inc
Posted 1/10/2020

ATSN-201 Gene Therapy in RS1-Associated X-linked Retinoschisis

NCT05878860RecruitingPhase 1
Atsena Therapeutics Inc.
Posted 8/22/2023

Gene Transfer for Recessive Dystrophic Epidermolysis Bullosa

NCT01263379CompletedPhase 1
Abeona Therapeutics, Inc
Posted 10/5/2010

ReviR Therapeutics Secures FDA Orphan Drug Designation for RTX-117 in Charcot-Marie-Tooth Disease

Rare Disease
  • ReviR Therapeutics received FDA Orphan Drug Designation for RTX-117, its lead investigational therapy targeting Charcot-Marie-Tooth disease, the most prevalent inherited peripheral neuropathy affecting up to 150,000 Americans.
  • RTX-117 represents a novel disease-modifying approach designed to activate eIF2B and restore protein expression, potentially addressing underlying causes rather than just symptoms of this progressive genetic disorder.
  • The company plans to initiate a Phase 1 clinical trial in healthy volunteers in early 2026, followed by a Phase Ib/IIa study in CMT patients, addressing a significant unmet medical need with no currently approved treatments.
  • The FDA designation provides crucial regulatory benefits including tax credits, fee exemptions, and potential seven-year market exclusivity upon approval.

AnnJi's AJ201 Shows Clinical Promise for Kennedy's Disease in Phase 2a Trial

Orphan DrugRare Disease
  • AnnJi Pharmaceutical's Phase 2a clinical trial results for AJ201 in treating spinal and bulbar muscular atrophy (Kennedy's disease) were selected as a Late-Breaking Abstract at the World Muscle Society 2025 International Congress.
  • AJ201, an oral suspension containing the novel curcumin analog Rosolutamide, demonstrated positive functional outcomes in SBMA patients and represents a potential first-in-class therapy for the condition in two decades.
  • The drug has received Orphan Drug Designation from both the U.S. FDA and EMA, with AnnJi advancing toward Phase 2/3 clinical development for this rare neuromuscular disorder affecting approximately 1 in 40,000 males.

UCB's Pyrimidine Nucleoside Therapy Shows 95% Reduction in Death Risk for Ultra-Rare TK2 Deficiency

Rare Disease
  • A multicenter retrospective study published in Neurology demonstrated that pyrimidine nucleoside therapy reduced death risk by 95% in patients with thymidine kinase 2 deficiency (TK2d), with zero deaths among 38 treated patients compared to 58% mortality in 69 untreated patients.
  • The therapy showed significant functional improvements, with 65% of patients who had lost motor milestones regaining at least one during treatment, and 29% of patients experiencing reduced need for ventilatory support.
  • UCB's investigational doxecitine and doxribtimine combination therapy is currently under regulatory review by US and EU authorities and could become the first approved treatment for TK2d patients with symptom onset at or before 12 years of age.
  • TK2d is an ultra-rare mitochondrial disease affecting approximately 1.64 cases per million people worldwide, causing progressive muscle weakness that impacts walking, eating, and breathing independently.

A Study of the Efficacy and Safety of MT1621 in Thymidine Kinase 2 (TK2) Deficiency (Treatment naïve)

NCT04581733WithdrawnPhase 3
Zogenix MDS, Inc.
Posted 9/30/2022

MedPath

Empowering clinical research with data-driven insights and AI-powered tools.

© 2025 MedPath, Inc. All rights reserved.