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Servier India Launches First-in-Class IDH1-Targeted Therapy Ivosidenib for Rare Blood and Bile Duct Cancers

Targeted TherapyDrug ApprovalOncologyRare DiseasePrecision Medicine
  • Servier India received CDSCO approval on May 14, 2025, to launch Ivosidenib (Tibsovo®), the first oral targeted therapy for IDH1-mutated acute myeloid leukemia and cholangiocarcinoma in India.
  • The therapy addresses a critical unmet medical need, as only 30-40% of AML patients in India receive adequate treatment and IDH1 mutations occur in approximately 7-14% of Indian AML patients.
  • Ivosidenib has already gained regulatory approval in over 42 countries, including FDA approval in 2019 and EMA approval in 2023 for specific patient populations.
  • The company is prioritizing accessibility and affordability through collaborations with healthcare providers, patient advocacy groups, and policymakers to ensure broader patient access across India.

FDA Awards Sarepta First Platform Technology Designation for Gene Therapy Vector

Rare Disease
  • The FDA has granted Sarepta Therapeutics a platform technology designation for its rAAVrh74 viral vector, marking one of the first such awards since the program launched in 2024.
  • The designation enables Sarepta to leverage existing safety and efficacy data from its approved Duchenne muscular dystrophy therapy Elevidys in future gene therapy applications using the same vector.
  • The platform technology program aims to streamline development and regulatory review processes for rare disease gene therapies by allowing companies to build upon previously established platform data.
  • Sarepta's rAAVrh74 vector is incorporated in multiple programs including the investigational limb-girdle muscular dystrophy treatment SRP-9003, which could be submitted for regulatory approval later this year.

Gene Delivery Clinical Trial of SRP-9003 (Bidridistrogene Xeboparvovec) for Participants With Limb-Girdle Muscular Dystrophy, Type 2E (LGMD2E) (Beta-Sarcoglycan Deficiency)

NCT03652259Active, Not RecruitingPhase 1
Sarepta Therapeutics, Inc.
Posted 10/27/2018

A Study of CAP-1002 in Ambulatory and Non-Ambulatory Patients With Duchenne Muscular Dystrophy

NCT03406780CompletedPhase 2
Capricor Inc.
Posted 4/4/2018

A Phase 1, Dose Escalation Trial of RP-A601 in Subjects With PKP2 Variant-Mediated Arrhythmogenic Cardiomyopathy (PKP2-ACM)

NCT05885412RecruitingPhase 1
Rocket Pharmaceuticals Inc.
Posted 8/29/2023

Open-label Extension of the HOPE-2 Trial

NCT04428476Active, Not RecruitingPhase 2
Capricor Inc.
Posted 8/5/2020

A Study of Deramiocel (CAP-1002) in Ambulatory and Non-Ambulatory Patients With Duchenne Muscular Dystrophy

NCT05126758Active, Not RecruitingPhase 3
Capricor Inc.
Posted 6/22/2022

A Gene Transfer Therapy Study to Evaluate the Safety of SRP-9004 (Patidistrogene Bexoparvovec) in Participants With Limb-Girdle Muscular Dystrophy, Type 2D (LGMD2D)

NCT01976091CompletedPhase 1
Sarepta Therapeutics, Inc.
Posted 2/1/2015

LEGEND Study: EG-70 in NMIBC Patients BCG-Unresponsive and High-Risk NMIBC Incompletely Treated With BCG or BCG-Naïve

NCT04752722RecruitingPhase 1
enGene, Inc.
Posted 4/22/2021

A Trial to Learn More About an Experimental Gene Therapy Called Bidridistrogene Xeboparvovec (SRP-9003) as a Possible Treatment for Limb Girdle Muscular Dystrophy 2E/R4

NCT06246513Active, Not RecruitingPhase 3
Sarepta Therapeutics, Inc.
Posted 1/15/2024

Aspaveli Demonstrates Sustained 68% Proteinuria Reduction in Phase 3 VALIANT Trial for Rare Kidney Diseases

Rare Disease
  • Aspaveli achieved a statistically significant 68% reduction in proteinuria compared to placebo at Week 26, with sustained efficacy through one year in the Phase 3 VALIANT study for C3 glomerulopathy and primary immune complex membranoproliferative glomerulonephritis.
  • The drug demonstrated consistent efficacy across diverse patient subgroups including adults, adolescents, and those with transplanted kidneys, while maintaining a favorable safety profile with no cases of meningitis or encapsulated bacterial infections.
  • With no currently approved therapies for these rare kidney diseases that affect approximately 15,500 patients in major markets, Aspaveli represents a potential first-in-class treatment option.
  • Sobi and Apellis plan to submit regulatory applications in 2025, with an FDA decision expected by summer 2025 for these devastating conditions that lead to kidney failure in 50% of patients within 5-10 years.

Phase III Study Assessing the Efficacy and Safety of Pegcetacoplan in Patients With C3 Glomerulopathy or Immune-Complex Membranoproliferative Glomerulonephritis

NCT05067127CompletedPhase 3
Apellis Pharmaceuticals, Inc.
Posted 11/12/2021

LEO Pharma Launches Phase 2a Trial of Delgocitinib Cream for Rare Skin Disease Palmoplantar Pustulosis

Rare Disease
  • LEO Pharma has initiated the DELTA NEXT phase 2a trial to evaluate delgocitinib cream versus placebo in adults with mild to severe palmoplantar pustulosis, a rare inflammatory skin condition.
  • The study will recruit up to 135 patients across 40-45 sites in the US, Canada, UK, Germany, and Poland, targeting patients for whom topical corticosteroids are inadequate or inadvisable.
  • Palmoplantar pustulosis currently has no approved advanced systemic treatments in the US or Europe, representing a significant unmet medical need for patients experiencing pain, fatigue, and impaired quality of life.
  • Delgocitinib cream is a topical pan-JAK inhibitor already approved in Europe for chronic hand eczema, offering potential therapeutic benefit through inhibition of multiple inflammatory pathways.

Affinia Therapeutics Partners with DCM Foundation to Advance BAG3 Dilated Cardiomyopathy Awareness and Genetic Testing

Rare Disease
  • Affinia Therapeutics has partnered with the DCM Foundation and Genetic Cardiomyopathy Awareness Consortium to raise awareness about BAG3 dilated cardiomyopathy, a devastating monogenic heart disease affecting over 70,000 patients across the U.S., Europe, and U.K.
  • The collaboration aims to promote early diagnosis and genetic testing for BAG3 DCM, addressing the critical gap where only a fraction of cardiomyopathy patients receive genetic testing despite nearly 50% having a genetic basis.
  • The partnership will establish a BAG3 Patient Advisory Council and educational webinars while advancing Affinia's lead gene therapy candidate AFTX-201, a potential best-in-class AAV therapy delivered as a one-time intravenous injection.
  • Despite current standard of care, almost 25% of BAG3 DCM patients require heart transplant, highlighting the urgent need for innovative treatments and improved diagnostic approaches.

Kamari Pharma Secures $23 Million Series A to Advance First-in-Class TRPV3 Inhibitor for Rare Genetic Skin Diseases

Rare Disease
  • Kamari Pharma closed a $23 million Series A financing co-led by BRM Group and Pontifax to advance KM023, a first-in-class oral TRPV3 inhibitor for rare genetic skin diseases.
  • The lead program KM023 targets three rare genetic skin conditions: Olmsted syndrome, severe keratoderma, and ichthyosis, with proof-of-concept trials planned for each indication.
  • The company plans to initiate a Phase 1b clinical trial for Olmsted syndrome in the second half of 2025, with top-line results expected by year-end.
  • TRPV3 inhibition represents a novel therapeutic approach in rare dermatology, targeting a key regulator in skin disease pathways.

Rigosertib Achieves 80% Response Rate in First Clinical Trial for Rare RDEB-Associated Skin Cancer

Rare DiseaseOncologyOrphan Drug
  • Rigosertib demonstrated an 80% overall response rate with 50% complete responses in the first-ever clinical trial for RDEB-associated squamous cell carcinoma, published in the British Journal of Dermatology.
  • The trial addressed a critical unmet medical need in recessive dystrophic epidermolysis bullosa patients who develop aggressive skin cancers with cumulative death risks of 70% and 78.7% by ages 45 and 55, respectively.
  • Traws Pharma is actively seeking development and commercialization partners for rigosertib, a small molecule PLK-1 kinase inhibitor, as no approved therapies currently exist for this devastating condition.

Rigosertib for RDEB-SCC

NCT03786237RecruitingPhase 1
Prof. Johann Bauer
Posted 4/12/2021

Rigosertib in Patients With Recessive Dystrophic Epidermolysis Bullosa Associated SCC

NCT04177498CompletedEarly Phase 1
Thomas Jefferson University
Posted 8/24/2021

ImmunAbs Receives FDA Clearance for Phase 2 Trial of IM-101 Complement Inhibitor in Myasthenia Gravis

Monoclonal AntibodyFDA ApprovalRare Disease
  • ImmunAbs Inc. announced FDA clearance of its IND application to initiate a Phase 2 clinical trial evaluating IM-101, a novel complement C5 inhibitor, for treating Myasthenia Gravis.
  • The multicenter, randomized, double-blind, placebo-controlled study will enroll up to 90 patients to assess monthly IM-101 dosing effectiveness and safety.
  • IM-101 demonstrated excellent safety profile in Phase 1 trials with no dose-limiting toxicity and superior efficacy in complement inhibition compared to existing treatments.
  • The company believes comprehensive inhibition of both classical and alternative complement pathways is essential for achieving deeper therapeutic responses in MG patients.

KalVista's Sebetralstat Halts Hereditary Angioedema Attacks in Median 19.8 Minutes Across Clinical Trials

Rare Disease
  • KalVista Pharmaceuticals reported that sebetralstat, an investigational oral plasma kallikrein inhibitor, halted hereditary angioedema attack progression in a median time of 19.8 minutes across both KONFIDENT and KONFIDENT-S trials.
  • The drug demonstrated rapid efficacy in treating severe mucosal attacks, with patients achieving symptom relief in 1.3 hours for both abdominal and laryngeal attacks, and 96% of attacks resolved without requiring additional doses.
  • Clinical data showed sebetralstat effectively treated 76 severe or very severe HAE attacks that had progressed after delayed treatment, delivering symptom relief in a median of 1.36 hours.
  • The oral formulation represents a potential breakthrough as the first oral on-demand HAE treatment, with regulatory review ongoing and a FDA PDUFA goal date of June 17, 2025.

Sanofi Acquires Blueprint Medicines for $9.1 Billion to Strengthen Rare Disease and Immunology Portfolio

Rare DiseaseOrphan Drug
  • Sanofi will acquire Blueprint Medicines Corporation for $129.00 per share in cash, representing an equity value of approximately $9.1 billion, with additional contingent value rights potentially worth $9.5 billion total.
  • The acquisition adds Ayvakit/Ayvakyt (avapritinib), the only approved medicine for advanced and indolent systemic mastocytosis, which achieved net revenues of $479 million in 2024 with over 60% year-on-year growth.
  • Blueprint's pipeline includes elenestinib, a next-generation systemic mastocytosis treatment in phase 2/3 trials, and BLU-808, a wild-type KIT inhibitor with potential for broad immunological applications.
  • The transaction is expected to close in Q3 2025 and will be immediately accretive to gross margin and accretive to business operating income and EPS after 2026.

(HARBOR) Study to Evaluate Efficacy and Safety of BLU-263 Versus Placebo in Patients With Indolent Systemic Mastocytosis

NCT04910685RecruitingPhase 2
Blueprint Medicines Corporation
Posted 11/30/2021

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