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FDA Approves First Treatment for Alkaptonuria: Nitisinone Shows Clinical Benefits in Rare Metabolic Disorder

Drug ApprovalRare DiseaseOrphan Drug
  • The FDA approved nitisinone (Harliku) as the first and only treatment for alkaptonuria, a rare genetic metabolic disorder affecting 1 in 250,000 to 1 million Americans.
  • A 3-year randomized clinical trial of 40 patients demonstrated that nitisinone improved pain, energy levels, and physical functioning compared to untreated controls.
  • Alkaptonuria causes buildup of homogentisic acid leading to joint problems, ochronosis, and complications in kidneys and heart, with the medication expected to launch in July 2025.
  • The approval represents a significant breakthrough for patients who previously had no approved therapeutic options for this debilitating condition.

Long-Term Study of Nitisinone to Treat Alkaptonuria

NCT00107783CompletedPhase 2
National Human Genome Research Institute (NHGRI)
Posted 1/1/2005

Kaiser Permanente Launches FDA-Approved Gene Therapy Program for Pediatric Sickle Cell Disease

FDA ApprovalRare Disease
  • Kaiser Permanente Southern California will launch an FDA-approved gene therapy program for pediatric sickle cell disease patients through a partnership with Downey Medical Center and City of Hope.
  • The program will serve approximately 220 children aged 12 and above currently treated by Kaiser Permanente, with the first patient scheduled for treatment this summer.
  • The gene therapy process involves extracting stem cells from the patient's blood, modifying them in a laboratory, and reinfusing them to provide a cure without requiring donor matching.
  • This treatment addresses a critical unmet need, as sickle cell disease affects approximately 100,000 Americans and reduces life expectancy by more than 20 years compared to the national average.

Haploidentical Bone Marrow Transplantation in Sickle Cell Patients (BMTCTN1507)

NCT03263559CompletedPhase 2
Medical College of Wisconsin
Posted 10/3/2017

Camurus' CAM2029 Shows Significant Liver Volume Reduction in Phase 2b Trial for Rare Polycystic Liver Disease

Rare DiseaseOrphan Drug
  • Camurus' POSITANO Phase 2b study demonstrates that CAM2029 significantly reduces liver volume by 4.3% and liver cyst volume by 8.7% compared to placebo in patients with polycystic liver disease.
  • The 12-month randomized trial enrolled 71 participants and met its primary endpoint with statistical significance, while also showing improvements in disease symptoms and patient-reported outcomes.
  • CAM2029 was well tolerated with a safety profile consistent with approved somatostatin receptor ligands, and Camurus plans to discuss Phase 3 study design with regulatory authorities.
  • The treatment addresses a significant unmet medical need for approximately 37,000 patients in the US and EU who currently have no approved pharmacological treatment options.

A Trial to Assess the Efficacy and Safety of Octreotide Subcutaneous Depot in Patients With PLD

NCT05281328Active, Not RecruitingPhase 2
Camurus AB
Posted 6/28/2022

BrightSpring's Onco360 Pharmacy Selected as National Partner for Three New Cancer and Rare Disease Therapies

OncologyRare DiseaseDrug ApprovalTargeted Therapy
  • BrightSpring Health Services announced that its specialty pharmacy Onco360 has been selected as the national pharmacy partner for three newly approved therapies targeting advanced cancers and rare genetic disorders.
  • The partnership includes GOMEKLI for neurofibromatosis type 1 patients with plexiform neurofibromas, AVMAPKI FAKZYNJA CO-PACK for KRAS-mutated recurrent low-grade serous ovarian cancer, and IBTROZI for ROS1-positive non-small cell lung cancer.
  • Onco360 will provide comprehensive patient support including access, education, data management, and expert clinical guidance for these innovative treatments across all 50 states.

Diagonal Therapeutics' DIAG723 Shows Disease-Modifying Potential for Hereditary Hemorrhagic Telangiectasia in Preclinical Studies

Rare Disease
  • Diagonal Therapeutics will present preclinical data at EHA 2025 Congress demonstrating their clustering antibody approach can restore ALK1-mediated cellular signaling and prevent arteriovenous malformations in HHT models.
  • The company's bispecific antibody DIAG723 improved survival from 25% to 100% in mouse models and prevented HHT-associated anemia and heart enlargement.
  • DIAG723 has received orphan drug designation from both the US FDA and EMA for treating HHT, a rare bleeding disorder affecting over 150,000 people with no approved therapies.

Health Canada Approves Expanded Dosing and Pediatric Indication for FIRDAPSE in Lambert-Eaton Myasthenic Syndrome

Drug ApprovalRare Disease
  • Health Canada has approved Kye Pharmaceuticals' supplemental new drug submission for FIRDAPSE (amifampridine), allowing some patients with Lambert-Eaton myasthenic syndrome to benefit from an increased maximum daily dose of up to 100mg.
  • The expanded approval includes pediatric dosing guidance for patients 6 years of age and older, providing pediatric neurologists with a proven treatment option for children diagnosed with LEMS.
  • FIRDAPSE is a potassium channel blocker that works by increasing acetylcholine release at the neuromuscular junction, helping improve muscle function in patients with this rare autoimmune disorder.
  • The label update offers healthcare providers and patients greater flexibility in treatment regimens for managing LEMS, a condition characterized by muscle weakness and fatigue.

Biogen Launches Phase 3 Pediatric Trial of Omaveloxolone for Friedreich Ataxia

Rare DiseaseOrphan Drug
  • Biogen has initiated the BRAVE study, a global Phase 3 clinical trial evaluating omaveloxolone in children aged 2 to 16 years with Friedreich ataxia.
  • The study will enroll approximately 255 pediatric participants and use the Upright Stability Score as the primary endpoint to measure disease progression.
  • This represents the first potential treatment option for pediatric Friedreich ataxia patients, addressing a critical unmet medical need in this vulnerable population.
  • Omaveloxolone is currently approved as SKYCLARYS for adults and adolescents aged 16 and older in over 40 countries worldwide.

A Study to Learn More About the Long-Term Safety of BIIB141 (Omaveloxolone) in Participants With Friedreich's Ataxia Who Are Prescribed it by Their Own Doctors

NCT06623890Recruiting
Biogen
Posted 12/12/2024

A Study to Learn More About the Effects and Long-Term Safety of BIIB141 (Omaveloxolone) in Participants With Friedreich's Ataxia Aged 2 to 15 Years Old

NCT06953583RecruitingPhase 3
Biogen
Posted 6/9/2025

Actio Biosciences Raises $66M Series B to Advance Rare Disease Programs Targeting Ion Channel Disorders

Rare DiseaseOrphan DrugPrecision Medicine
  • Actio Biosciences secured $66 million in Series B funding co-led by Regeneron Ventures and Deerfield Management to advance two lead programs targeting rare genetic diseases.
  • The company's most advanced program, ABS-0871, is currently in Phase 1 trials for Charcot-Marie-Tooth disease type 2C, with potential expansion to overactive bladder treatment.
  • ABS-1230, targeting KCNT1-related epilepsy affecting approximately 2,500 individuals in the U.S., received FDA rare pediatric and orphan drug designations and is expected to enter Phase 1 trials in late 2025.
  • The company's "inclusive precision medicine" approach aims to develop treatments that address multiple mutations within the same genetic pathway, potentially benefiting broader patient populations.

Senate Republicans Drop Orphan Drug Exemptions from Trump Tax Bill, Dealing Blow to Rare Disease Drug Development

Rare Disease
  • Senate Republicans excluded the Orphan Cures Act from their version of Trump's "One Big Beautiful Bill Act," removing provisions that would have exempted multi-indication orphan drugs from Medicare price negotiations.
  • The bipartisan Orphan Cures Act aimed to address concerns that current Inflation Reduction Act provisions discourage rare disease drug development, with data showing a 48% drop in drugs receiving second orphan designations post-IRA.
  • Patient advocacy groups celebrated the Senate's decision, arguing the act was an industry attempt to evade necessary drug price negotiations and maintain lower costs for Medicare beneficiaries.
  • The Senate's departure from the House version indicates further legislative revisions are likely before Republicans' July 4 target deadline for final passage.

Quilt Health Secures $6M Seed Funding to Modernize Clinical Trial Access for Complex Diseases

AIRare Disease
  • Quilt Health, a digital health company focused on bridging treatment access gaps for complex diseases, successfully closed a $6 million seed funding round, bringing total funding to $8 million.
  • The company addresses critical clinical trial recruitment challenges, with more than 70% of trials failing to meet enrollment thresholds, particularly in rare disease research where patient pools are small and hard to reach.
  • Quilt Health's AI-powered platform integrates multiple data sources to surface key patient characteristics and outcomes, supporting clinical workflows and improving trial efficiency for pharmaceutical sponsors, research sites, and patients.
  • The company recently partnered with the National Alliance of Sickle Cell Centers (NASCC), providing access to a national network of more than 115 sickle cell centers to combine research and patient care.

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