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Healx Partners with Vuja De Sciences to Advance AI-Driven Therapy for Metastatic Osteosarcoma Recurrence

AIRare DiseaseDrug Discovery
  • Healx has entered into a strategic transaction with Vuja De Sciences to combine AI-powered drug discovery with clinical expertise in cancer recurrence prevention.
  • The partnership advances HLX-4310, a promising therapy for preventing recurrence of metastatic osteosarcoma that has received FDA IND clearance for clinical trials.
  • Metastatic osteosarcoma affects mostly young patients with a devastating five-year survival rate of less than 20%, representing a critical unmet medical need.
  • The collaboration strengthens Healx's rare and pediatric oncology portfolio, now advancing two clinical-stage assets in this therapeutic area.

GSK to Submit Label Update for Leucovorin Following FDA Request for Cerebral Folate Deficiency Treatment

Rare Disease
  • GSK will submit a supplemental New Drug Application to update Wellcovorin (leucovorin) labeling to include cerebral folate deficiency treatment at FDA's request as part of the agency's initiative to repurpose older medications.
  • The FDA is expected to approve leucovorin for treating children with cerebral folate deficiency and autistic symptoms in the coming weeks, with Medicaid and CHIP coverage required upon label change.
  • Cerebral folate deficiency is characterized by low concentrations of 5-methyltetrahydrofolate in cerebrospinal fluid and may manifest with neuropsychiatric symptoms.
  • Agency leaders cite research suggesting leucovorin could help children with folate deficiencies and improve verbal communications in some autism patients, though they emphasize it is not a cure for autism.

FDA Grants Fast Track Designation to MavriX Bio's MVX-220 Gene Therapy for Angelman Syndrome

Rare Disease
  • The FDA has granted Fast Track designation to MVX-220, an investigational adeno-associated virus (AAV) gene therapy developed by MavriX Bio for treating Angelman syndrome.
  • MVX-220 is designed to restore functional expression of the UBE3A gene in neurons, addressing the underlying genetic cause of Angelman syndrome.
  • The designation enables accelerated development and closer FDA collaboration as MavriX Bio prepares to initiate ASCEND-AS, a Phase 1/2 first-in-human clinical study.
  • Angelman syndrome affects approximately 1 in 12,000-20,000 individuals and currently has no approved treatments available.

Long-term Extension of GTX-102 in Angelman Syndrome

NCT06415344Unknown StatusPhase 3
Ultragenyx Pharmaceutical Inc
Posted 7/31/2024

A Phase 1/2 Study of the Safety and Efficacy of MVX-220 in Angelman Syndrome

NCT07181837RecruitingNot Applicable
MavriX Bio, LLC
Posted 10/1/2025

A Study of the Safety and Tolerability of GTX-102 in Children with Angelman Syndrome

NCT04259281CompletedPhase 1
Ultragenyx Pharmaceutical Inc
Posted 2/24/2020

Tolvaptan Shows Promise as Universal Pharmacological Chaperone for Rare Disease Treatment

Rare Disease
  • Researchers demonstrated that tolvaptan, an already-approved oral medication, can stabilize 87% of mutated vasopressin V2 receptor variants associated with nephrogenic diabetes insipidus.
  • The study represents the first proof-of-principle evidence that a single drug can act as a "nearly universal" pharmacological chaperone, stabilizing protein structures regardless of mutation location.
  • This breakthrough could revolutionize rare disease drug development by targeting protein stabilization rather than individual mutations, potentially accelerating treatment pipelines for genetic diseases.
  • The findings may extend to other G-protein-coupled receptors, which represent targets for about one-third of all approved drugs and are implicated in numerous rare and common diseases.

Ensoma Secures $53 Million to Advance First-in-Class Gene Therapy for X-Linked Chronic Granulomatous Disease

Rare Disease
  • Ensoma raised $53 million from top-tier investors including Gilead to support its Phase 1/2 clinical trial of EN-374, a first-in-class in vivo hematopoietic stem cell therapy for X-linked chronic granulomatous disease.
  • The company's EN-374 therapy uses virus-like particles to deliver genetic payloads that engineer stem cells to restore NADPH oxidase function in neutrophils, addressing a critical immune deficiency.
  • X-linked CGD affects approximately 1 in 100,000-200,000 live births with a median life expectancy of 45 years, representing a significant unmet medical need with limited current treatment options.
  • Ensoma's platform technology has potential applications beyond CGD, including immuno-oncology and sickle cell disease, positioning the company for broader therapeutic impact.

Study of EN-374 Gene Therapy in Participants With X-Linked Chronic Granulomatous Disease

NCT06876363RecruitingPhase 1
Ensoma
Posted 8/5/2025

EMA Recommends Amgen's Uplizna for Rare Autoimmune Disease IgG4-RD

Monoclonal AntibodyRare Disease
  • The European Medicines Agency's human medicines committee has recommended expanding Amgen's Uplizna (inebilizumab) indication to treat adult patients with active immunoglobulin G4-related disease (IgG4-RD).
  • IgG4-RD is a rare, chronic autoimmune condition that can cause tissue scarring and inflammation in multiple organs, with no currently authorized medicines in the EU.
  • Phase 3 trial data showed 58.8% of Uplizna patients achieved corticosteroid-free, flare-free complete remission at week 52, compared to 22.4% receiving placebo.
  • The monoclonal antibody targets and destroys B cells, and is already approved for neuromyelitis optica spectrum disorders.

Ipsen's Bylvay Receives Japanese Approval for Rare Liver Disease PFIC, Offering First Non-Surgical Treatment Option

Drug ApprovalRare DiseaseOrphan Drug
  • Japan's Ministry of Health, Labour and Welfare has approved Bylvay (odevixibat) as the first once-daily ileal bile acid transport inhibitor for treating pruritus in progressive familial intrahepatic cholestasis patients.
  • The approval addresses a critical unmet need for approximately 100 children and infants in Japan suffering from this rare, life-threatening genetic liver disorder.
  • Clinical data from the global PEDFIC Phase III trial demonstrated that 55% of patients achieved pruritus reduction with odevixibat compared to 30% on placebo.
  • The treatment offers a non-surgical alternative for managing debilitating symptoms including severe itching, sleep disruption, and impaired cognitive development in PFIC patients.

EMA Approves First Treatment for Non-Cystic Fibrosis Bronchiectasis as 16 New Medicines Receive Marketing Authorization

Drug ApprovalRare Disease
  • The European Medicines Agency's CHMP recommended approval for Brinsupri (brensocatib), marking the first treatment specifically for non-cystic fibrosis bronchiectasis, a serious chronic lung disease.
  • A total of 16 medicines received positive opinions across September and October 2025 meetings, including treatments for RSV prevention, myasthenia gravis, and immune thrombocytopenia.
  • Nine biosimilar medicines for conditions including osteoporosis and rheumatoid arthritis were approved, expanding treatment access across Europe.
  • The committee maintained the suspension of Oxbryta for sickle cell disease following safety concerns that emerged in 2024.

Chugai Receives Japanese Approval for Tecentriq in Rare Lymphoma, Marking First Checkpoint Inhibitor for ENKL

Drug ApprovalMonoclonal AntibodyRare Disease
  • Chugai Pharmaceutical obtained regulatory approval from Japan's Ministry of Health, Labour and Welfare for Tecentriq (atezolizumab) to treat relapsed or refractory extranodal natural killer/T-cell lymphoma, nasal type (ENKL).
  • Tecentriq becomes the first immune checkpoint inhibitor approved in Japan for ENKL, a rare malignant lymphoma where approximately 60% of patients relapse after initial treatment with no established standard therapy after relapse.
  • The approval was based on results from the phase II ATTACK study conducted by Japanese investigators, including National Cancer Center Hospital, evaluating efficacy and safety in relapsed/refractory ENKL patients.
  • Chugai also received approval for a 4-weekly dosing regimen for existing lung cancer and breast cancer indications, providing more flexible treatment planning and reducing hospital visit burden.

GeneDx Strengthens Leadership Team with Key Appointments to Advance AI-Powered Precision Medicine

AIPrecision MedicineRare DiseaseDrug Discovery
  • GeneDx appointed Lisa Gurry as Chief Business Officer to lead strategic partnerships and unlock the potential of GeneDx Infinity, the world's largest rare disease dataset with nearly one million exomes and genomes.
  • The company also named Dr. Thomas Fuchs, Chief AI Officer at Eli Lilly, to its board of directors to advance AI applications in genomic medicine and drug discovery.
  • These appointments position GeneDx to accelerate precision medicine initiatives, leveraging AI tools like Multiscore and recent acquisitions such as Fabric Genomics to improve diagnostic efficiency.
  • The strategic moves aim to enhance partnerships with biopharma companies and health systems while delivering faster, more accurate rare disease diagnoses for patients and families.

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