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Aro Biotherapeutics Completes Enrollment in Phase 1b Trial of Novel siRNA Therapy for Late-Onset Pompe Disease

Rare DiseaseOrphan DrugTargeted Therapy
  • Aro Biotherapeutics has completed enrollment in its Phase 1b clinical trial of ABX1100, a first-in-class targeted siRNA therapy for late-onset Pompe disease patients currently receiving enzyme replacement therapy.
  • ABX1100 represents a novel therapeutic approach using Centyrin-siRNA conjugate technology to inhibit glycogen synthase 1 (GYS1), targeting the root cause of glycogen accumulation in muscle tissue.
  • The trial evaluates safety, tolerability, and preliminary therapeutic activity over 20 weeks, with results expected to inform later-phase clinical studies for this orphan drug-designated treatment.
  • Current enzyme replacement therapy requires intravenous infusions lasting up to 6 hours multiple times monthly, highlighting significant unmet medical need in this rare neuromuscular disorder.

Study to Assess the Safety, Tolerability, PK and PD of ABX1100

NCT06109948RecruitingEarly Phase 1
Aro Biotherapeutics
Posted 10/19/2023

ResVita Bio Receives FDA Clearance to Advance Novel Bacterial Therapy for Rare Skin Disease

Orphan DrugRare Disease
  • ResVita Bio completed a successful Pre-IND meeting with the FDA for RVB-003, a first-in-class therapy for Netherton Syndrome, a life-threatening genetic skin disorder with no approved treatments.
  • The company's innovative approach uses genetically engineered bacteria to continuously produce therapeutic proteins directly on the skin surface, overcoming limitations of conventional protein drugs.
  • FDA provided positive feedback on the development program, clearing the path for IND submission in the first half of 2026 and clinical efficacy readout by early 2027.

Acadia Pharmaceuticals' Phase 3 Trial of Intranasal Carbetocin for Prader-Willi Syndrome Fails to Meet Primary Endpoint

Rare DiseaseOrphan Drug
  • Acadia Pharmaceuticals announced that its Phase 3 COMPASS PWS trial of intranasal carbetocin (ACP-101) failed to demonstrate statistically significant improvement over placebo for hyperphagia in Prader-Willi syndrome patients.
  • The 12-week randomized, placebo-controlled trial enrolled 175 children and adults aged 5-30 years with PWS, testing carbetocin 3.2 mg three times daily against placebo.
  • Despite the setback, Acadia maintains its growth outlook with two approved products projected to generate over $1 billion in net sales in 2025 and a robust pipeline including eight disclosed programs.
  • The company will discontinue further investigation of intranasal carbetocin but plans to share study data with the PWS community for future learning.

FDA Breaks Precedent with Literature-Based Approval for Leucovorin in Cerebral Folate Deficiency

Drug ApprovalRare Disease
  • The FDA is initiating approval of leucovorin calcium tablets for cerebral folate deficiency based on systematic literature analysis rather than traditional clinical trials, marking a departure from the agency's standard evidence requirements.
  • The neurological condition affects folate transfer into the brain and causes developmental delays with autistic features, seizures, and movement coordination problems in patients.
  • President Trump referenced leucovorin as "a potential drug for some autism symptoms" during a recent media briefing, highlighting the connection between cerebral folate deficiency and autism spectrum features.
  • This approval represents a significant shift in FDA policy, as the agency has historically maintained that observational studies generate hypotheses but are insufficient for drug approvals.

Santhera Secures CHF 20 Million Growth Funding to Accelerate Global AGAMREE Rollout for Duchenne Muscular Dystrophy

Rare Disease
  • Santhera Pharmaceuticals secured approximately CHF 20 million in additional funding from existing investors Highbridge and R-Bridge to accelerate the global rollout of AGAMREE (vamorolone) for Duchenne muscular dystrophy treatment.
  • Strong demand for AGAMREE has exceeded expectations across the US, Europe, and China, with over 1,000 patients treated worldwide and US sales reaching USD 49.4 million in the first half of 2025.
  • The funding comprises USD 13 million from a royalty monetization with R-Bridge and CHF 10 million from Highbridge through a convertible bond extension, supporting inventory expansion and launch acceleration.
  • AGAMREE represents a novel dissociative anti-inflammatory drug that demonstrated efficacy in the pivotal VISION-DMD study while potentially avoiding growth restrictions and bone metabolism issues associated with traditional corticosteroids.

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

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