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Citrin Foundation and University Children's Hospital Zürich Launch Pioneering Center for Urea Cycle Disorders Research

Rare Disease
  • The Citrin Foundation and University of Zürich have established the world's first center dedicated to translational research in urea cycle disorders with a CHF$10 million commitment over ten years.
  • Led by Professor Johannes Häberle, the center will focus on biomarker discovery, liver metabolic function research, novel therapy development including gene therapy, and clinical trial readiness.
  • The initiative aims to bridge the "valley of death" between laboratory discoveries and clinical applications for rare metabolic diseases that currently have no curative treatments beyond liver transplantation.

FDA Grants Rare Pediatric Disease Designation to Relief Therapeutics' EB Treatment RLF-TD011

Rare Disease
  • The FDA has granted Rare Pediatric Disease designation to Relief Therapeutics' RLF-TD011 for epidermolysis bullosa, a rare genetic skin disorder affecting approximately 500,000 people worldwide.
  • RLF-TD011 is a hypotonic acid-oxidizing solution with hypochlorous acid that provides antimicrobial and anti-inflammatory properties while creating a wound microenvironment conducive to healing.
  • The designation could potentially lead to a Priority Review Voucher upon approval, which has significant value as demonstrated by a recent EB treatment voucher that sold for $155 million.

Characterization of the Microbiome in Colonized Dystrophic and Junctional Epidermolysis Bullosa Wounds Before and After Use of APR-TD011 ® Spray Solution

NCT05533866CompletedEarly Phase 1
Northwestern University
Posted 2/6/2023

AnnJi Pharmaceutical Reports Promising Phase 1/2a Results for AJ201 in SBMA, a Rare Neuromuscular Disease

Rare DiseaseNeurology
  • AnnJi Pharmaceutical's AJ201 demonstrated positive results in a Phase 1/2a trial for Spinal and Bulbar Muscular Atrophy (SBMA), showing improvements in physical function and muscle biomarkers after 12 weeks of treatment.
  • The investigational drug reduced mutant androgen receptor levels by more than 50% in over half of treated patients and activated the Nrf2 pathway, supporting its proposed mechanism of action.
  • With no FDA-approved treatments currently available for SBMA, AnnJi plans to advance AJ201 to Phase 3 trials, potentially offering hope for approximately 1 in 40,000 males affected by this rare genetic disorder.

A Study to Evaluate Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics Of AJ201 In Patients

NCT05517603CompletedPhase 1
AnnJi Pharmaceutical Co., Ltd.
Posted 2/28/2023

Rainbow Children's Hospital Completes Eighth Zolgensma Gene Therapy for Spinal Muscular Atrophy in India

Rare Disease
  • Rainbow Children's Hospital in Secunderabad, India has successfully administered its eighth Zolgensma gene therapy treatment for Spinal Muscular Atrophy, a rare genetic neuromuscular condition affecting approximately 1,000 children in India.
  • The one-time gene therapy, which costs approximately Rs 14 crore (USD 1.7 million) per dose, works by replacing the defective SMN1 gene using adeno-associated viral vector technology to enable production of essential SMN protein.
  • Following treatment, patients require continuous monitoring by a multidisciplinary team and weekly laboratory investigations to identify potential adverse events and enable early intervention.

Telomir Pharmaceuticals Secures $3 Million Investment to Advance Novel Age-Reversal Drug for Rare Diseases

Rare Disease
  • Telomir Pharmaceuticals has secured $3 million in premium equity financing from its largest shareholder to advance Telomir-1, a first-in-class age-reversal molecule, toward an IND submission for rare disease indications by year-end.
  • The company's lead candidate, Telomir-1, targets five fundamental biological drivers of aging and has shown promising preclinical results across multiple conditions including Progeria, Wilson's disease, and Type 2 diabetes.
  • Telomir is also developing Telomir-Ag2, a novel stabilized Silver(II) compound with broad-spectrum antimicrobial activity against drug-resistant pathogens, addressing a global market projected to exceed $30 billion.

Worldwide Clinical Trials Joins WCG's Avoca Quality Consortium to Enhance Clinical Trial Standards

OncologyRare Disease
  • Worldwide Clinical Trials has joined WCG's Avoca Quality Consortium (AQC), a collaborative network of over 200 life sciences companies focused on elevating clinical trial quality.
  • The strategic partnership aims to enhance quality, efficiency, and regulatory compliance through industry collaboration and best practices, ultimately delivering faster and more reliable outcomes for customers.
  • This membership aligns with Worldwide's commitment to quality assurance across its services, which include bioanalytical laboratory services, Phase I-IV clinical trials, and post-approval studies.

AstraZeneca Showcases Groundbreaking Cancer Research at ASCO 2025 with Two Plenary Presentations

OncologyTargeted TherapyPrecision MedicineRare Disease
  • AstraZeneca will present over 80 abstracts at ASCO 2025, including two plenary presentations featuring camizestrant for HR-positive breast cancer and IMFINZI for early gastric cancer, marking their seventh consecutive year with plenary data.
  • The SERENA-6 trial is the first positive Phase III study for a next-generation oral SERD in first-line HR-positive breast cancer, pioneering the use of circulating tumor DNA to guide treatment decisions.
  • DESTINY-Breast09 data shows ENHERTU plus pertuzumab is the first treatment in over a decade to demonstrate superiority over standard care in first-line HER2-positive metastatic breast cancer.

Efficacy and Safety of Selumetinib in Adults With NF1 Who Have Symptomatic, Inoperable Plexiform Neurofibromas

NCT04924608Active, Not RecruitingPhase 3
AstraZeneca
Posted 11/19/2021

Study of DS-8201a in Subjects With Advanced Solid Malignant Tumors

NCT02564900CompletedPhase 1
Daiichi Sankyo Co., Ltd.
Posted 9/1/2015

New Genetic Findings Challenge Traditional Understanding of Coats' Disease

Rare Disease
  • Research led by Dr. David Abramson reveals that Coats' disease, traditionally considered unilateral, shows bilateral involvement when examined with fluorescein angiography, challenging long-held clinical beliefs.
  • Genetic testing identified a variation in the LTBP2 gene associated with Coats' disease, providing new insights into the condition's genetic underpinnings and supporting the concept that single genes can influence multiple diseases.
  • Treatment approaches combining laser photocoagulation and anti-VEGF therapy showed promising results in advanced cases, though researchers speculate effectiveness may be linked to specific telomere biology disorders.

Bristol Myers Squibb to Close Gene Therapy Manufacturing Facility in Libertyville, Illinois

Rare Disease
  • Bristol Myers Squibb has announced the closure of its viral vector production facility in Libertyville, Illinois, with operations being consolidated to Devens, Massachusetts, as part of a $2 billion cost-saving initiative.
  • The facility, which was acquired by Bristol Myers Squibb two years ago and previously used by Novartis to manufacture the gene therapy Zolgensma, will begin layoffs on July 1 according to state WARN reports.
  • Company representatives acknowledged the difficult decision to cease vector manufacturing at the Libertyville site, which they noted "has operated at the highest level for BMS Cell Therapy."

PharmaEssentia's Ropeginterferon Shows Promising Results in Phase 3 Trial for Essential Thrombocythemia

OncologyRare Disease
  • PharmaEssentia will present positive Phase 3 SURPASS-ET trial results showing ropeginterferon alfa-2b-njft achieved significantly higher durable clinical response rates compared to anagrelide (42.9% vs. 6.0%; p=0.0001) in essential thrombocythemia patients.
  • The trial demonstrated not only effective blood count control but also a measurable reduction in JAK2 mutation allele burden over 12 months, addressing an underlying disease mechanism that current treatments fail to target.
  • Ropeginterferon alfa-2b-njft (marketed as BESREMi® for polycythemia vera) could potentially offer a new second-line treatment option for essential thrombocythemia, a rare blood disorder characterized by excessive platelet production.

Ropeginterferon Alfa 2b for Early MyelofibrosisDIPSS Low/Intermediate-1 Risk Myelofibrosis

NCT05731245RecruitingPhase 2
National Taiwan University Hospital
Posted 2/8/2023

Ropeginterferon Alfa-2b (P1101) vs. Anagrelide in Essential Thrombocythemia Patients With Hydroxyurea Resistance or Intolerance

NCT04285086Active, Not RecruitingPhase 3
PharmaEssentia
Posted 8/25/2020

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