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GemVax's GV1001 Receives FDA Fast Track Designation and Korean Therapeutic Use Approval for Progressive Supranuclear Palsy

Rare Disease
  • GV1001, developed by GemVax & KAEL, has received both FDA Fast Track designation and Korean Ministry of Food and Drug Safety approval for therapeutic use in progressive supranuclear palsy patients.
  • The Fast Track designation follows GV1001's earlier Orphan Drug Designation, providing benefits including clinical trial design support, rolling review options, and potential accelerated approval pathways.
  • Korean approval allows PSP patients who participated in Phase 2 trials to continue receiving GV1001 at Seoul National University hospitals, addressing a critical unmet need for this rapidly progressing neurodegenerative disorder.

Multiple System Atrophy Pipeline Shows Promise with 22+ Therapies in Development as FDA Grants Fast Track Designations

Rare Disease
  • The global Multiple System Atrophy (MSA) market is experiencing significant growth driven by emerging alpha-synuclein targeting therapies and advanced diagnostic technologies including high-resolution MRI and biomarker identification.
  • Over 20 companies are developing 22+ MSA treatment therapies across various clinical phases, with recent FDA Fast Track designations granted to ATH434 by Alterity Therapeutics and amlenetug by H. Lundbeck A/S.
  • Despite promising pipeline developments, the MSA market faces challenges including absence of curative therapies, diagnostic complexity due to symptom overlap with Parkinson's disease, and limited commercial incentives due to the rare patient population.
  • Leading pharmaceutical companies including Biohaven Pharmaceuticals, Merck & Co., AstraZeneca, and emerging biotech firms are focusing on disease-modifying treatments targeting alpha-synuclein aggregation pathways.

Ascendis Pharma Presents Long-Term Data on Rare Endocrine Disease Therapies at Major Medical Conferences

Rare Disease
  • Ascendis Pharma will present 4-year efficacy and safety data from the Phase 2 PaTH Forward Trial of TransCon PTH (palopegteriparatide) for chronic hypoparathyroidism at ESPE & ESE 2025.
  • The company will share 52-week results from the pivotal ApproaCH Trial of TransCon CNP (navepegritide) in children with achondroplasia, including growth and bone morphometry data.
  • Additional presentations at ENDO 2025 will feature 3-year data from the Phase 3 PaTHway Trial demonstrating sustained improvement in renal function and maintenance of normal biochemistries.
  • The data presentations highlight the potential of Ascendis' TransCon technology platform to address unmet medical needs in rare endocrine diseases.

Gene Therapy Shows Promising Results in Children with Rare Immune Disorder LAD-I

Rare Disease
  • An investigational gene therapy has successfully restored immune function in all nine children treated for severe leukocyte adhesion deficiency-I (LAD-I) in an international clinical trial co-led by UCLA.
  • The therapy genetically corrects patients' own blood stem cells, potentially eliminating many risks associated with traditional bone marrow transplants while effectively treating this rare disorder that affects one in a million people.
  • All treated children now live symptom-free with normalized white blood cell counts, significantly fewer severe infections, and resolution of characteristic skin lesions and gum inflammation.

Lentiviral Gene Transfer for Treatment of Children Older Than Two Years of Age With X-Linked Severe Combined Immunodeficiency (XSCID)

NCT01306019RecruitingPhase 1
National Institute of Allergy and Infectious Diseases (NIAID)
Posted 9/25/2012

Gene Transfer for X-Linked Severe Combined Immunodeficiency in Newly Diagnosed Infants

NCT01512888SuspendedPhase 1
St. Jude Children's Research Hospital
Posted 8/17/2016

Foresee Pharmaceuticals Launches Phase 2 Trial of Mirivadelgat for Pulmonary Hypertension Associated with Interstitial Lung Disease

Rare Disease
  • Foresee Pharmaceuticals has initiated a multinational Phase 2 trial evaluating mirivadelgat, an aldehyde dehydrogenase 2 activator, in patients with pulmonary hypertension associated with interstitial lung disease (PH-ILD).
  • The double-blind, three-arm study will enroll approximately 126 subjects across multiple sites in Taiwan, measuring pulmonary vascular resistance as the primary endpoint over a 12-week treatment period.
  • The trial represents a potential new therapeutic approach for PH-ILD patients, a condition with limited treatment options, by targeting the aldehyde dehydrogenase 2 pathway rather than conventional pulmonary vasodilator mechanisms.

Study to Evaluate Safety and Efficacy of Mirivadelgat in PH-ILD

NCT06475781RecruitingPhase 2
Foresee Pharmaceuticals Co., Ltd.
Posted 3/1/2025

Apertura Gene Therapy Partners with Rett Syndrome Research Trust to Advance Blood-Brain Barrier-Crossing Gene Therapy Platform

Rare Disease
  • Apertura Gene Therapy and Rett Syndrome Research Trust announced a collaboration to license Apertura's TfR1-targeted AAV capsid technology for developing genetic medicines to treat Rett syndrome.
  • The TfR1 CapX platform enables intravenous delivery of genetic medicines across the blood-brain barrier, achieving over 50% neuronal and 90% astrocyte transduction in preclinical studies.
  • The partnership will integrate the capsid technology into RSRT's MECP2 Editing Consortium, a $40 million initiative aimed at bringing three genetic medicines to clinical trials by 2028.
  • Rett syndrome affects primarily girls due to MECP2 gene mutations, causing severe developmental regression and requiring round-the-clock care throughout life.

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.

FDA Budget Cuts Linked to Drug Approval Delays as Small Biotech Faces PDUFA Postponement

Drug ApprovalRare Disease
• Recent government efficiency cuts at the FDA appear to be causing delays in drug approval timelines, with 66% of healthcare professionals surveyed expressing concern about potential PDUFA date postponements.
• Stealth BioTherapeutics' treatment for rare Barth syndrome, elamipretide, has experienced an unexplained decision delay, with no typical safety or manufacturing concerns cited as reasons for the postponement.
• Industry experts warn that while widespread disruption isn't yet evident, continued FDA resource constraints could significantly impact clinical trial oversight and create approval backlogs lasting years.

ImmVira Reports Favorable Safety Profile for Oncolytic Virus MVR-C5252 in Phase I Glioma Trial

OncologyRare Disease
  • ImmVira presented Phase I clinical results for MVR-C5252, an oncolytic herpes simplex virus therapy targeting malignant glioma, at the 2025 AACR annual meeting.
  • The study demonstrated a favorable safety profile with no serious adverse events or dose-limiting toxicities in three patients who received treatment via convection-enhanced delivery.
  • MVR-C5252 is engineered with PD-1 antibody and IL-12 to combine oncolytic effects with immune activation, addressing a cancer with less than 5% five-year survival rate.
  • The therapy has received Investigational New Drug approval in both the U.S. and China, plus FDA Orphan Drug Designation for this rare indication.

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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