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FDA Sets Q3 2025 Approval Dates for Three Breakthrough Therapies Targeting Rare Diseases

Drug ApprovalRare DiseaseMonoclonal AntibodyOrphan Drug
  • The FDA has established PDUFA target action dates for three promising therapies in Q3 2025: sepiapterin for phenylketonuria (July 29), apitegromab for spinal muscular atrophy (September 22), and paltusotine for acromegaly (September 25).
  • PTC Therapeutics' sepiapterin demonstrated a 63% reduction in blood phenylalanine levels in PKU patients, with 84% achieving therapeutic control and over 97% able to liberalize their protein-restricted diets.
  • Scholar Rock's apitegromab showed statistically significant motor function improvements in SMA patients already receiving standard care, while Crinetics' paltusotine achieved IGF-1 normalization in 83% of acromegaly patients switching from injectable treatments.
  • These approvals could provide significant therapeutic advances for patients with rare genetic disorders who currently have limited treatment options or face challenges with existing therapies.

Sickle Cell Disease Pipeline Shows Robust Growth with 60+ Therapies in Development Across Multiple Clinical Phases

Rare Disease
  • DelveInsight's 2025 assessment reveals a robust sickle cell disease pipeline with 55+ companies developing 60+ therapeutic candidates across various clinical development stages.
  • Recent clinical milestones include Rigel Pharmaceuticals enrolling the first patient in a Phase I trial of fostamatinib and Beam Therapeutics presenting updated BEACON trial data for BEAM-101.
  • The pipeline encompasses diverse therapeutic approaches including gene therapies, small molecules, and monoclonal antibodies, with treatments administered through multiple routes from oral to intravenous.
  • Key marketed therapies include Vertex Pharmaceuticals' CASGEVY, a CRISPR/Cas9 gene-edited cell therapy, and Emmaus Medical's ENDARI, an oral L-glutamine treatment for reducing acute complications.

Mallinckrodt to Present Five Clinical Studies on TERLIVAZ for Hepatorenal Syndrome at DDW 2025

Real World EvidenceRare Disease
  • Mallinckrodt will present five clinical analyses of TERLIVAZ (terlipressin) for hepatorenal syndrome with rapid reduction in kidney function (HRS-AKI) at Digestive Disease Week 2025 in San Diego.
  • TERLIVAZ is the first and only FDA-approved treatment for improving kidney function in adults with HRS-AKI, a rare and life-threatening condition affecting approximately 42,000 Americans annually.
  • The presentations will include real-world evidence on treatment outcomes in various patient populations, including those on transplant waitlists and with alcohol-associated liver disease.

Minoryx and Neuraxpharm Submit New Marketing Authorization Application for Leriglitazone in Cerebral Adrenoleukodystrophy

Orphan DrugRare Disease
  • Minoryx Therapeutics and Neuraxpharm have submitted a new Marketing Authorization Application to the EMA for leriglitazone (NEZGLYAL®) to treat cerebral adrenoleukodystrophy, which has been validated and is under review.
  • The application is based on positive results from the NEXUS study, where 35% of pediatric patients met arrested disease criteria compared to the expected 10% natural self-arrest rate.
  • This submission follows a previous regulatory setback in May 2024 when the CHMP recommended against granting marketing authorization after re-examination.
  • If approved, leriglitazone would become the first pharmacological treatment for cALD, a devastating rare disease with no current drug therapy options.

A Clinical Study to Assess the Efficacy and Safety of Leriglitazone in Adult Male Subjects With Cerebral Adrenoleukodystrophy

NCT05819866RecruitingPhase 3
Minoryx Therapeutics, S.L.
Posted 7/12/2023

A Clinical Study in Male Pediatric Patients With Cerebral X-linked Adrenoleukodystrophy (Cald) to Assess the Effects of MIN-102 Treatment on Disease Progression Prior to Human Stem Cell Transplant (HSCT)

NCT04528706Active, Not RecruitingPhase 2
Minoryx Therapeutics, S.L.
Posted 9/13/2019

Ipsen Secures Dual CHMP Approvals for Rare Liver Disease Treatments Following Regulatory Strategy Shift

Drug ApprovalRare DiseaseOrphan Drug
  • Ipsen received CHMP approval for odevixibat under the new brand name Kayfanda for Alagille syndrome, marking the second approval for the same drug after rebranding due to orphan status complications.
  • The company simultaneously secured CHMP recommendation for Iqirvo (elafibranor) as a treatment for primary biliary cholangitis, representing a rare dual approval achievement.
  • Odevixibat demonstrated statistically significant improvements in scratching severity in the ASSERT trial, the world's first phase 3 study completed in Alagille syndrome patients.
  • Both approvals address significant unmet medical needs in rare cholestatic liver diseases, with analysts estimating the PBC market alone could exceed $1.5 billion annually.

Chugai's Vabysmo Becomes First Approved Treatment for Angioid Streaks in Japan

Drug ApprovalRare Disease
  • Chugai Pharmaceutical has received Japanese regulatory approval for Vabysmo as the first-ever treatment for choroidal neovascularization associated with angioid streaks, a rare eye disease that can lead to vision loss.
  • The approval follows positive Phase III NIHONBASHI study results showing statistically significant visual acuity improvement of +5.8 letters at week 12 and a reduction in central retinal thickness of -106.4 μm.
  • Vabysmo, a bispecific antibody targeting both VEGF-A and Ang-2 pathways, was generally well-tolerated with no new safety concerns identified during the clinical trial.

SynaptixBio Selects Antisense Oligonucleotide Candidate for Rare Disease H-ABC Clinical Trials

Rare Disease
  • Oxford-based SynaptixBio has identified SB H-19642, an antisense oligonucleotide drug candidate, to advance into clinical trials for H-ABC, a rare and currently incurable form of TUBB4A-related leukodystrophy.
  • Animal testing demonstrated the ASO significantly reduces toxic proteins from the mutated gene, with potential to halt disease progression and reverse some symptoms.
  • The company received a £2 million BioMedical Catalyst grant from Innovate UK to support first-in-human clinical trials of the therapeutic.
  • The global ASO therapy market is projected to grow from $4.4 billion in 2023 to $19.7 billion by 2032, driven by increasing prevalence of neurodegenerative disorders and regulatory approvals.

Oak Hill Bio Advances Rugonersen for Angelman Syndrome Following Promising Phase 1 Results Published in Nature Medicine

Rare Disease
  • Oak Hill Bio obtained exclusive global rights to rugonersen from Roche and plans to initiate a Phase 3 study in early 2026 for treating Angelman syndrome.
  • The Phase 1 TANGELO trial results published in Nature Medicine showed rugonersen led to dose-dependent improvements in brain activity biomarkers and developmental abilities compared to natural history.
  • Rugonersen demonstrated a favorable safety profile across more than 450 intrathecal administrations in 61 participants, with most adverse events being transient.
  • The antisense oligonucleotide targets the root cause of Angelman syndrome by restoring UBE3A protein expression from the paternal allele.

Study Reveals Significant Diagnostic Delays for Minority Patients with Generalized Myasthenia Gravis

Rare DiseaseNeurology
  • Project ASPIRE research reveals racial and ethnic minority patients with generalized myasthenia gravis (gMG) face nearly four-month longer diagnostic delays compared to white patients, despite seeking care at similar timeframes.
  • Key barriers to timely gMG diagnosis include poor symptom recognition by both patients and physicians, limited access to specialists, and challenges with medical record transfers between healthcare systems.
  • Minority patients reported significantly higher stress levels during their diagnostic journey, with nearly double the percentage rating their experience as "very stressful" compared to white patients.

SOLVE FSHD Partners with Modalis to Develop CRISPR-Based Epigenome Editing Therapy for Muscular Dystrophy

Rare Disease
  • SOLVE FSHD and Modalis Therapeutics announced a strategic collaboration to develop MDL-103, an innovative CRISPR-based therapy targeting facioscapulohumeral muscular dystrophy (FSHD).
  • The therapy uses Modalis's proprietary CRISPR-GNDM® technology to continuously suppress the toxic DUX4 gene expression without introducing DNA breaks.
  • MDL-103 is designed for durable activity with muscle-specific delivery via AAV system, having shown promising efficacy in mouse models and safety in non-human primates.
  • FSHD affects approximately 1 million individuals worldwide, representing a significant unmet medical need in neuromuscular disorders.

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