A disease or disorder is defined as rare in Europe when it affects fewer than 1 in 2000. A disease or disorder is defined as rare in the USA when it affects fewer than 200,000 persons at any given tim...
Comprehensive, easy-to-understand information about this condition
How we create this content →Research studies investigating treatments and therapies for this condition.
Active Trials
Total Trials
Data from ClinicalTrials.gov Feb 5, 2026
Research studies investigating treatments and therapies for this condition.
Active Trials
Total Trials
Data from ClinicalTrials.gov Feb 5, 2026
Connect with organizations supporting the rare community
Helpful links for rare disease information and support
Questions that may be helpful when speaking with your healthcare team
Clinical profile data for this condition is not yet available. Phenotype information may still be loading below.
Research studies investigating treatments and therapies for this condition.
Active Trials
Total Trials
Data from ClinicalTrials.gov Feb 5, 2026
Patient Advocacy Groups (PAGs) provide support, resources, and community for patients and caregivers.
AI-Generated Content: This summary was generated using AI. Content has been fact-checked. Always consult with qualified healthcare providers for medical guidance.
Kisho delivers this disease record via API, including phenotypes (HPO), genes, orphan drug designations, screening status, and PAG mapping, with version history and governance.
AI-curated news mentioning rare
Updated Feb 6, 2026
Pfizer has initiated a Phase 3 trial for giroctocogene fitelparvovec (PF-07055480), a gene therapy targeting severe hemophilia A. This advancement reflects Pfizer's commitment to developing transformative treatments for rare diseases.
Rare Disease Day at NIH highlights the collaboration between the Rare Diseases Clinical Research Network and patient advocacy groups. This event aims to raise awareness and support for rare diseases through community engagement.
Rare Disease Day emphasizes the critical role of patient advocacy groups in driving research and treatment development for rare diseases. Celebrated annually on the last day of February, it aims to raise awareness and mobilize resources for conditions that often receive less attention.
Angela, Founder and President of Cal Rare, has significantly influenced rare disease advocacy in California, leading to the formation of the California Rare Disease Legislative Caucus, which now includes 25% of the State Legislature. Her recognition includes the Rare Voice Award for State Advocacy and accolades for her social media impact on rare disease awareness.
Amgen acquires Horizon Therapeutics for $27.3 billion, highlighting significant consolidation in the rare disease sector amid challenging financial conditions. This acquisition underscores the ongoing interest in rare disease therapies despite market difficulties.