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Medicus Pharma Partners with Gorlin Syndrome Alliance to Advance Compassionate Access for SKINJECT™ Microneedle Therapy

Rare Disease
  • Medicus Pharma Ltd. has announced a strategic collaboration with the Gorlin Syndrome Alliance to pursue FDA Expanded Access IND Program for SKINJECT™, targeting patients with multiple, recurrent, or inoperable basal cell carcinomas.
  • SKINJECT™ is an investigational doxorubicin-containing microneedle array therapy that demonstrated over 60% clinical clearance in interim Phase 2 analysis, offering a non-invasive treatment option for basal cell carcinoma.
  • Gorlin Syndrome affects approximately 1 in 31,000 people worldwide, with patients developing hundreds to over one thousand basal cell carcinomas throughout their lifetime, creating significant medical and economic burden.
  • The collaboration aims to establish expanded access framework while collecting real-world safety data and integrating patient community insights into SKINJECT™'s development for this rare disease population.

Relief Therapeutics' RLF-OD032 Achieves Bioequivalence to KUVAN in Pivotal PKU Study

Rare Disease
  • Relief Therapeutics announced positive results from its pivotal bioequivalence study showing RLF-OD032 demonstrated bioequivalence to KUVAN Powder for phenylketonuria treatment.
  • The innovative ready-to-use liquid formulation offers up to 100-fold reduction in dose volume compared to current sapropterin therapies that require mixing with water.
  • The company plans to submit a 505(b)(2) New Drug Application in early 2026, with RLF-OD032 positioned to become the first portable liquid sapropterin formulation if approved.

UCB Presents New Clinical Data for Two Myasthenia Gravis Therapies at Major Medical Conferences

Monoclonal AntibodyDrug ApprovalRare Disease
  • UCB will present 18 abstracts at the 2025 AANEM Annual Meeting and MGFA Scientific Session, showcasing new data on rozanolixizumab (RYSTIGGO) and zilucoplan (ZILBRYSQ) for generalized myasthenia gravis treatment.
  • Key presentations include post hoc analyses on corticosteroid dose tapering with rozanolixizumab from the Phase 3 MycarinG study and quality of life improvements with zilucoplan from the RAISE-XT trial.
  • The data encompasses long-term safety profiles, treatment effectiveness, and real-world insights from patient management applications, reinforcing UCB's commitment to advancing gMG care.

EMA Grants Orphan Drug Designation to Neurenati's NEU-001 for Hirschsprung Disease Treatment

Rare Disease
  • The European Medicines Agency has granted Orphan Drug Designation to NEU-001, a first-in-class combination therapy for treating Hirschsprung disease in newborns.
  • NEU-001 is designed to regenerate the enteric nervous system through intrarectal administration, potentially eliminating the need for invasive pull-through surgery.
  • The designation follows previous FDA Orphan Drug and Rare Pediatric Disease Designations, providing market exclusivity and development incentives.
  • Neurenati plans to initiate first-in-human clinical trials by the end of 2026 following completion of IND-enabling preclinical studies.

Japan Grants Orphan Designation to OTL-200 Gene Therapy for Rare Childhood Disease MLD

Rare Disease
  • Japan's Ministry of Health, Labor and Welfare has granted Orphan Regenerative Medicine Product Designation to OTL-200, an investigational gene therapy for early-onset metachromatic leukodystrophy (MLD).
  • MLD is an ultra-rare, fatal neurometabolic disease affecting one in 100,000 live births, with no approved therapies currently available in Japan beyond supportive care.
  • OTL-200 uses ex vivo hematopoietic stem cell gene therapy to correct the underlying genetic cause of MLD by inserting functional ARSA genes into patients' own stem cells.
  • The therapy is already approved as Lenmeldy in the United States and Libmeldy in Europe, representing the only treatment intended to address MLD's underlying cause.

BioMarin to Divest Roctavian Gene Therapy Following Commercial Struggles

Rare Disease
  • BioMarin Pharmaceutical announced plans to divest Roctavian, its hemophilia A gene therapy, after the treatment generated only $26 million in sales in 2024 versus initial projections of $100-200 million.
  • The therapy faced significant commercial challenges including limited patient eligibility, slow reimbursement processes, and a $2.9 million price tag that complicated market access.
  • The decision follows pressure from activist investor Elliott Investment Management, which took a $1 billion stake in the company and secured board representation to evaluate operations.
  • Despite being approved as a first-of-its-kind treatment for severe hemophilia A, Roctavian's struggles highlight broader challenges facing gene therapy commercialization in the rare disease space.

Incyte Partners with Enable Injections to Develop Subcutaneous Delivery System for First-in-Class mutCALR Therapy

Monoclonal AntibodyRare DiseaseOncology
  • Incyte has secured worldwide exclusive rights to use Enable Injections' enFuse On-Body Delivery System with its investigational first-in-class mutant calreticulin (mutCALR) selective monoclonal antibody INCA033989.
  • The partnership targets essential thrombocythemia and myelofibrosis, rare blood cancers where mutCALR represents the second most common oncogenic driver of myeloproliferative neoplasms.
  • The enFuse system enables subcutaneous delivery of large-volume biologics, potentially allowing patients to self-administer treatment at home instead of requiring intravenous infusions.
  • Enable's enFuse technology has already received FDA approval for combination products in 2023 and European Union CE Mark approval in March 2025.

Zenith Epigenetics' ZEN-3694 Receives FDA Orphan Drug Designation for NUT Carcinoma Treatment

Rare DiseaseOncology
  • The FDA has granted Orphan Drug designation to ZEN-3694, a BET bromodomain inhibitor developed by Zenith Epigenetics, for the treatment of NUT carcinoma, a rare and aggressive cancer with no currently approved therapies.
  • NUT carcinoma affects an estimated 10,000 patients annually in G8 countries with a median overall survival of approximately 6 months, representing a significant unmet medical need.
  • ZEN-3694 is currently being evaluated in two active clinical trials for NUT carcinoma in combination with abemaciclib and cisplatin plus etoposide, with early data showing superior response rates compared to single-agent BET inhibitors.
  • The Orphan Drug designation provides Zenith with potential seven-year market exclusivity, tax credits for clinical trials, and exemption from FDA user fees, complementing the previously announced Fast Track designation.

Testing the Safety and Efficacy of the Addition of A New Anti-cancer Drug, ZEN003694, to Chemotherapy Treatment (Etoposide and Cisplatin) for Adult and Pediatric Patients (12-17 Years) With NUT Carcinoma

NCT05019716RecruitingPhase 1
National Cancer Institute (NCI)
Posted 7/13/2022

Testing the Safety and Efficacy of the Combination of Two Anti-cancer Drugs, ZEN003694 and Abemaciclib, for Adult and Pediatric Patients (12-17 Years) With Metastatic or Unresectable NUT Carcinoma, Breast Cancer and Other Solid Tumors

NCT05372640RecruitingPhase 1
National Cancer Institute (NCI)
Posted 8/10/2023

BridgeBio Reports Positive Phase 3 Results for BBP-418 in Rare Muscular Dystrophy

Rare DiseaseOrphan Drug
  • BridgeBio's Phase 3 FORTIFY study of BBP-418 met all primary and secondary endpoints in patients with limb-girdle muscular dystrophy type 2I/R9, showing significant improvements in muscle function and biomarkers.
  • The investigational oral therapy demonstrated a 1.8-fold increase in glycosylated alpha-dystroglycan and an 82% reduction in muscle damage markers compared to placebo at 12 months.
  • Patients treated with BBP-418 showed clinically meaningful improvements in walking speed and lung function, with the company planning to file for FDA approval in the first half of 2026.
  • The positive results represent a potential breakthrough for LGMD2I/R9, a progressive genetic disorder that currently has no approved treatments and leads to loss of mobility and respiratory complications.

Study to Evaluate the Efficacy and Safety of BBP-418 (Ribitol) in Patients With Limb Girdle Muscular Dystrophy 2I (LGMD2I)

NCT05775848Active, Not RecruitingPhase 3
ML Bio Solutions, Inc.
Posted 5/31/2023

Ribo Receives EMA Orphan Drug Designation for siRNA Therapeutic RBD1016 Targeting Hepatitis D Virus

Rare Disease
  • The European Medicines Agency has granted Orphan Drug Designation to RBD1016, an siRNA therapeutic developed by Ribo for treating Hepatitis D Virus infection.
  • RBD1016 utilizes Ribo's proprietary GalNAc-platform RiboGalSTAR™ to selectively silence key viral factors involved in HDV infection and is currently in Phase II clinical development.
  • HDV affects an estimated 12-20 million people globally and represents the most severe form of viral hepatitis, with limited therapeutic options currently available.
  • The designation provides significant regulatory and commercial incentives that enable more rapid progression to patients suffering from this rare and underserved disease.

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