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ProQR Receives EMA Authorization to Begin Phase 1 Trial of AX-0810 RNA Editing Therapy for Cholestatic Diseases

Rare Disease
  • ProQR Therapeutics received authorization from the Central Committee on Research Involving Human Subjects (CCMO) following EMA centralized review to initiate a Phase 1 study of AX-0810 in healthy volunteers.
  • AX-0810 is a first-in-class investigational RNA editing oligonucleotide targeting NTCP, developed for treating cholestatic diseases like primary sclerosing cholangitis and biliary atresia.
  • The Phase 1 study will evaluate safety, tolerability, pharmacokinetics, and pharmacodynamics via biomarkers to establish proof of target engagement in the Netherlands.
  • AX-0810 represents the first program from ProQR's Axiomer RNA editing pipeline to enter clinical development, with initial clinical data expected in Q4 2025.

Endo Launches First Generic Version of RAVICTI for Rare Urea Cycle Disorders

Rare DiseaseDrug Approval
  • Endo has launched the first and only FDA-approved generic version of RAVICTI (glycerol phenylbutyrate) oral liquid in the United States, providing a new treatment option for patients with urea cycle disorders.
  • The generic formulation serves as a nitrogen-binding agent for chronic management of both adult and pediatric patients with UCDs who cannot be managed by dietary protein restriction alone.
  • This first-to-market generic launch represents a significant milestone for Endo's complex generics portfolio and aims to expand access for patients and healthcare providers.
  • The medication must be used with dietary protein restriction and requires careful monitoring for potential neurotoxicity associated with phenylacetate exposure above 500 micrograms/mL.

Viridian Therapeutics Secures $300M Royalty Financing to Advance Thyroid Eye Disease Therapies

Rare Disease
  • Viridian Therapeutics secured up to $300 million in royalty financing from DRI Healthcare, including $55 million upfront and potential near-term milestones up to $115 million based on positive clinical trial results and regulatory approvals.
  • The company accelerated its regulatory timeline, expecting to submit a Biologics License Application for veligrotug imminently and anticipating VRDN-003 phase 3 trial data readouts in Q1 2026 for REVEAL-1 and Q2 2026 for REVEAL-2.
  • The financing, combined with existing cash, is expected to fully fund commercial launches of both veligrotug and VRDN-003 for thyroid eye disease treatment.
  • Viridian also amended its credit facility with Hercules Capital, providing additional access to up to $300 million in milestone-based capital.

Glaukos Receives FDA Approval for Epioxa, First Incision-Free Topical Therapy for Keratoconus

Drug ApprovalOrphan DrugRare Disease
  • Glaukos Corporation announced FDA approval of Epioxa HD/Epioxa, the first FDA-approved incision-free topical drug therapy for keratoconus that eliminates the need for corneal epithelium removal.
  • The approval is based on two Phase 3 pivotal trials involving over 400 patients that successfully achieved primary efficacy endpoints with favorable safety profiles.
  • Epioxa represents a transformative advancement in keratoconus care, designed to eliminate pain associated with traditional procedures while streamlining treatment and minimizing recovery time.
  • Commercial availability is expected in Q1 2026, with Glaukos planning substantial investments in patient awareness and access programs to address underdiagnosis and undertreatment challenges.

Study to Evaluate the Safety and Efficacy of Epi-on Corneal Cross-linking in Eyes With Progressive Keratoconus

NCT03442751CompletedPhase 3
Glaukos Corporation
Posted 4/6/2018

[Trial of device that is not approved or cleared by the U.S. FDA]

NCT05759559withheld
[Redacted]

Pharming Group to Present 12 Studies on Rare Disease Treatments at 2025 ACAAI Meeting

Rare DiseaseReal World Evidence
  • Pharming Group will present 12 accepted abstracts at the 2025 ACAAI Annual Scientific Meeting in Orlando, showcasing new clinical and economic data for their rare disease portfolio.
  • Five presentations will focus on RUCONEST® for hereditary angioedema treatment, including cost-effectiveness studies and indirect treatment comparisons with competing therapies.
  • Seven studies will highlight real-world effectiveness data for Joenja® (leniolisib) in treating APDS, including pediatric trial results and caregiver burden assessments.
  • The presentations demonstrate Pharming's commitment to advancing patient care in rare genetic disorders affecting immune system function and regulation.

Neuren Pharmaceuticals Receives FDA Fast Track Designation for NNZ-2591 in Rare Neurological Syndromes

Rare DiseaseOrphan Drug
  • Neuren Pharmaceuticals received FDA Fast Track designation for NNZ-2591 to treat Phelan-McDermid syndrome and Angelman syndrome, potentially accelerating development and review timelines.
  • The company has initiated its Phase 3 "Koala" clinical trial evaluating NNZ-2591 in children aged three to 12 years with Phelan-McDermid syndrome.
  • Neuren shares surged 8.8% following the announcement and have gained 71% over the past 12 months, with the stock up 79% year-to-date.

Vimseltinib Shows Durable Two-Year Efficacy in Tenosynovial Giant Cell Tumor Phase 3 Trial

Rare DiseaseOncology
  • Vimseltinib demonstrated robust and durable antitumor activity with objective response rates of 48% per RECIST v1.1 and 81% per Tumor Volume Score in the two-year MOTION Phase 3 study.
  • The CSF1R inhibitor maintained a manageable safety profile with no new safety signals, with most adverse events being grade 1/2 and no evidence of liver toxicity.
  • At two-year follow-up, 51% of 118 patients remained on treatment with median duration of response not yet reached, supporting vimseltinib as a treatment option for inoperable TGCT.
  • The results reinforce vimseltinib's approval status in the US and EU for patients with symptomatic TGCT where surgical resection would cause functional limitation or severe morbidity.

Study of Vimseltinib for Tenosynovial Giant Cell Tumor

NCT05059262Active, Not RecruitingPhase 3
Deciphera Pharmaceuticals, LLC
Posted 10/14/2021

EMA Rejects Extended Dosing Regimen for Fabry Disease Treatment Elfabrio

Rare Disease
  • The European Medicines Agency's CHMP issued a negative opinion on Chiesi and Protalix's request to approve a less frequent dosing regimen for Elfabrio, rejecting the every-four-week option for Fabry disease patients.
  • The rejection was based on insufficient data from the BRIGHT trial and extension study to demonstrate similar efficacy compared to the currently approved every-two-week dosing schedule.
  • Despite the setback, both companies remain committed to reducing treatment burden for Fabry disease patients and will continue supporting the rare disease community.
  • Elfabrio remains approved for treating adults with confirmed Fabry disease at the current 1 mg/kg every two weeks dosing regimen in both the EU and US markets.

Dompé Receives FDA Priority Voucher for Intranasal NGF Therapy Targeting NAION Vision Loss

Rare Disease
  • Dompé has been selected as one of only nine recipients for the FDA's Commissioner's National Priority Voucher program, receiving the sole award in ophthalmology.
  • The voucher will accelerate review of the company's Biologics License Application for intranasal Cenegermin-bkbj, reducing standard review time from 10-12 months to just 1-2 months.
  • The therapy targets non-arteritic anterior ischemic optic neuropathy (NAION), which affects approximately 6,000 new patients annually in the US with no current approved treatments.
  • A registrational pivotal trial program is planned across more than 130 sites in 16 countries to evaluate the novel intranasal nerve growth factor formulation.

Esperion Advances ESP-2001 for Primary Sclerosing Cholangitis, Targeting $1 Billion Market Opportunity

Rare DiseaseOrphan Drug
  • Esperion has nominated ESP-2001, a highly-specific allosteric ATP citrate lyase inhibitor, as its preclinical development candidate for treating primary sclerosing cholangitis (PSC).
  • The company plans to file an Investigational New Drug application with the FDA in 2026 to initiate first-in-human clinical studies for this rare liver disease with no approved treatments.
  • ESP-2001 represents a potential blockbuster market opportunity exceeding $1 billion annually, targeting approximately 76,000 diagnosed PSC patients across the U.S. and Europe.
  • Preclinical studies demonstrate ESP-2001's ability to reduce markers of liver and bile duct injury, inflammation, and fibrosis associated with PSC pathogenesis.

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