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Tonix Pharmaceuticals Initiates First-in-Human Study of Intranasal Oxytocin for Rare Endocrine Disorder

Rare Disease
  • Tonix Pharmaceuticals has dosed the first patient in the FOCUS study, evaluating intranasal potentiated oxytocin products TNX-1900 and TNX-2900 for arginine-vasopressin deficiency (AVP-D), a rare endocrine disorder formerly known as central diabetes insipidus.
  • The randomized, double-blind, placebo-controlled crossover pilot study at Massachusetts General Hospital will assess single-dose treatments at 6 IU and 24 IU on markers of anxiety, depression, and socioemotional functioning in AVP-D patients.
  • AVP-D patients often experience mental health and quality-of-life challenges not adequately addressed by current interventions, with the condition associated with oxytocin deficiency and adverse mental health outcomes.
  • The study aims to generate preliminary data to inform future larger-scale clinical trials of oxytocin replacement therapy for this patient population.

Oxytocin for Weight Loss in Adolescents

NCT04551482RecruitingPhase 2
Massachusetts General Hospital
Posted 7/28/2021

Oxytocin Effects on Bone in Children with Autism Spectrum Disorder

NCT05754073RecruitingPhase 2
Elizabeth Austen Lawson
Posted 8/1/2023

A Study of the Effects of Oxytocin in Adults With Binge-eating Disorder

NCT05664516RecruitingPhase 2
Massachusetts General Hospital
Posted 3/7/2023

Effects of Intranasal Oxytocin in Patients With Arginine-vasopressin Deficiency

NCT04789148RecruitingPhase 1
Elizabeth Austen Lawson
Posted 9/10/2025

Novartis' Cosentyx Achieves Primary and Secondary Endpoints in Phase III Polymyalgia Rheumatica Trial

Rare Disease
  • Novartis announced that Cosentyx (secukinumab) successfully met the primary endpoint and all secondary endpoints in the Phase III REPLENISH trial for polymyalgia rheumatica treatment.
  • The interleukin-17A inhibitor demonstrated statistically significant and clinically meaningful sustained remission at Week 52 compared to placebo in adults with this rare inflammatory rheumatic disease.
  • The trial also showed a reduction in annual cumulative steroid dose versus placebo through Week 52, with Cosentyx maintaining its established safety profile.
  • Novartis plans to present the data at an upcoming medical congress and submit to health authorities in the first half of 2026.

Phase III Study of Efficacy and Safety of Secukinumab Versus Placebo, in Combination With Glucocorticoid Taper Regimen, in Patients With Polymyalgia Rheumatica (PMR)

NCT05767034Active, Not RecruitingPhase 3
Novartis Pharmaceuticals
Posted 3/22/2023

Sanofi's Efdoralprin Alfa Achieves Primary Endpoints in Phase 2 Alpha-1 Antitrypsin Deficiency Study

Rare DiseaseOrphan Drug
  • Sanofi's efdoralprin alfa demonstrated statistically significant superiority over standard plasma-derived therapy in the ElevAATe phase 2 study, meeting all primary and key secondary endpoints for alpha-1 antitrypsin deficiency emphysema treatment.
  • The recombinant therapy achieved consistently higher functional AAT levels with less frequent dosing (every 3-4 weeks) compared to weekly plasma-derived treatments, potentially offering significant convenience improvements for patients.
  • Results support efdoralprin alfa's potential as the first restorative recombinant therapy that normalizes and maintains functional AAT levels, addressing a critical unmet need in AATD management.
  • The therapy was well tolerated with a similar adverse event profile to current standard of care, with Sanofi planning to engage regulatory authorities on next steps following these positive results.

Phase 2 study comparing SAR447537 to plasma-derived A1PI therapy for AATD emphysema

2023-508084-76-00CompletedPhase 2
Sanofi AATD Inc.
Posted 10/12/2023

Long-term, Open-label Study of SAR447537 (INBRX-101) in Adults With Alpha-1 Antitrypsin Deficiency Emphysema

NCT05897424RecruitingPhase 2
Sanofi
Posted 6/20/2024

GLD Partners Acquires Seelos Therapeutics Assets, Advancing Ketamine and Trehalose Programs to Phase 3 Trials

Rare DiseaseOrphan Drug
  • GLD Partners, LP successfully acquired Seelos Therapeutics' late-stage ketamine and trehalose programs through a Chapter 11 bankruptcy process, positioning both assets for Phase 3 clinical development.
  • The ketamine program targets major depressive disorder and neuropsychiatric conditions, with GLD planning confirmatory Phase 3 pivotal trials aligned with FDA guidance.
  • The trehalose program represents a disease-modifying therapy for rare neurodegenerative and lysosomal storage disorders, advancing to adaptive Phase 2/3 studies with orphan drug designation potential.
  • The acquisition targets significant market opportunities, with the global MDD therapeutics market expected to exceed $15 billion annually by 2035 and trehalose applications in the multibillion-dollar rare disease treatment space.

Eleva's CPV-104 Advances to Phase 1b Testing in C3G Patients After Successful Safety Evaluation

Rare Disease
  • Eleva's CPV-104, the only recombinant Factor H in clinical development, successfully completed single ascending dose testing in 21 healthy volunteers with no safety concerns across four dose cohorts.
  • The Safety Review Committee has endorsed progression to multiple ascending dose testing in 18 patients with C3 glomerulopathy (C3G), a rare kidney disease with limited treatment options.
  • CPV-104 represents a breakthrough in biologics manufacturing, produced using Eleva's proprietary moss-based platform that enables scalable production of complex proteins previously inaccessible through traditional methods.
  • The drug candidate has received EU Orphan Drug Designation for C3G and demonstrated functional equivalence to endogenous human Factor H in preclinical studies.

GondolaBio's PORT-77 Receives FDA Orphan Drug and Fast Track Designations for Rare Protoporphyria Treatment

Rare Disease
  • The FDA has granted Orphan Drug and Fast Track designations to PORT-77, an oral ABCG2 inhibitor being developed by GondolaBio for erythropoietic protoporphyria (EPP) and X-linked protoporphyria (XLP).
  • PORT-77 has the potential to become the first therapy that may prevent both skin and liver damage in EPP/XLP patients by rapidly inhibiting ABCG2 in erythrocytes and hepatocytes.
  • The drug is currently being investigated in the Phase 2A GATEWAY trial with plasma PPIX reduction as the primary endpoint, with full Phase 2 data expected in the near-term.
  • EPP and XLP affect more than 25,000 people in the U.S. and EU, with no approved disease-modifying treatments currently available for these genetic photodermatoses.

Ferrer Completes Early Enrollment for Phase II PSP Trial Testing Novel OGA Inhibitor FNP-223

Rare Disease
  • Ferrer successfully recruited 220 patients for the PROSPER Phase II trial testing FNP-223 in progressive supranuclear palsy, completing enrollment two months ahead of schedule in just 14 months.
  • The randomized, double-blind, placebo-controlled study evaluates FNP-223, an oral OGA enzyme inhibitor licensed from Asceneuron, across 44 centers in the EU, UK, and US.
  • Progressive supranuclear palsy affects 5.8-6.5 people per 100,000, with no approved disease-modifying therapies and average life expectancy of 6-9 years after diagnosis.
  • The trial focuses on early-stage PSP-Richardson syndrome patients, where early intervention may have the greatest impact on slowing disease progression.

A Study to Assess the Efficacy, Safety, and Pharmacokinetics of FNP-223 to Slow Progression of Progressive Supranuclear Palsy (PSP)

NCT06355531Active, Not RecruitingPhase 2
Ferrer Internacional S.A.
Posted 7/23/2024

Stoke Therapeutics Reveals Two-Year Natural History Data for Rare Eye Disease ADOA, Supporting Phase 1 Trial of STK-002

Orphan DrugRare Disease
  • Stoke Therapeutics presented two-year data from the FALCON study, the largest prospective natural history study of autosomal dominant optic atrophy (ADOA), enrolling 47 patients across 10 international sites.
  • The study found that while ADOA progresses slowly, 24% of patients experienced at least a five-letter loss in low-contrast visual acuity, and patients showed higher levels of mitochondrial dysfunction compared to healthy individuals.
  • No significant anatomic changes in the retina were observed, suggesting retinal dysfunction may be reversible with treatment intervention, supporting development of STK-002 as a potential disease-modifying therapy.
  • The data inform the ongoing Phase 1 OSPREY study of STK-002, an antisense oligonucleotide designed to upregulate OPA1 protein expression and potentially become the first approved treatment for ADOA.

Abeona Therapeutics Appoints Gene Therapy Expert James Gow as Senior VP of Clinical Development

Rare Disease
  • Abeona Therapeutics has appointed James A. Gow, MD, MBA, MS, MHCM, as Senior Vice President, Head of Clinical Development & Medical Affairs, effective immediately.
  • Dr. Gow brings over 20 years of industry experience in clinical development and medical affairs, with recognized expertise in gene therapy, particularly in ophthalmology.
  • His clinical development track record includes leading programs from Phase 1 through post-marketing studies that resulted in FDA approvals of multiple drugs including Xibrom, Bromday, Prolensa, and Bepreve.
  • The appointment strengthens Abeona's leadership as the company advances its pipeline of cell and gene therapies, including ZEVASKYN for recessive dystrophic epidermolysis bullosa and AAV-based gene therapies for ophthalmic diseases.

ProQR Receives EMA Authorization to Begin Phase 1 Trial of AX-0810 RNA Editing Therapy for Cholestatic Diseases

Rare Disease
  • ProQR Therapeutics received authorization from the Central Committee on Research Involving Human Subjects (CCMO) following EMA centralized review to initiate a Phase 1 study of AX-0810 in healthy volunteers.
  • AX-0810 is a first-in-class investigational RNA editing oligonucleotide targeting NTCP, developed for treating cholestatic diseases like primary sclerosing cholangitis and biliary atresia.
  • The Phase 1 study will evaluate safety, tolerability, pharmacokinetics, and pharmacodynamics via biomarkers to establish proof of target engagement in the Netherlands.
  • AX-0810 represents the first program from ProQR's Axiomer RNA editing pipeline to enter clinical development, with initial clinical data expected in Q4 2025.

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