The nonprofit RARE-X is creating an easily-accessible, centralized data hub for all rare disease patient data that can help researchers answer questions about existing disorders, discover new ones, and work toward finding treatments. It was spun out of the work that Nicole Boice, founder and chief engagement officer of…
Enrollment is open for the open-label, Phase 1/2 HAERMONY trial to evaluate the safety and effectiveness of BMN 331, an investigational gene therapy for hereditary angioedema (HAE). The trial’s sponsor, BioMarin Pharmaceutical, plans to recruit about 34 adults with type 1 or type 2 HAE at one site…
It’s been nearly a year since the EveryLife Foundation for Rare Diseases released its expansive report finding the total economic burden of rare disorders in the U.S. to be nearly $1 trillion.
Orladeyo (berotralstat), an approved therapy for preventing swelling attacks in hereditary angiodema (HAE), was effective at controlling attacks in an HAE patient with normal C1 inhibitor activity, a case study reported. The clinician said this oral therapy may be particularly suitable for patients who have a needle phobia…
The U.S. Food and Drug Administration (FDA) has approved the use of a prefilled syringe of Takeda’s Takhzyro (lanadelumab) to prevent swelling attacks in hereditary angioedema (HAE) patients, 12 and older. The prefilled syringe comes fully assembled and requires less preparation than the current vial-based injection of…
Short-term treatment with Berinert, a plasma-derived form of the C1 inhibitor protein, successfully prevented acute swelling attacks in a patient with hereditary angioedema (HAE) following oral surgery, a case report describes. The report, “Oral Surgery Procedures in a Patient Affected by Hereditary Angioedema Type I,” was published…
Since 2008, Rare Disease Day — the last day of February — has brought together patients, caregivers, family members, friends, and advocates from around the world to raise awareness and improve equity for the more than 7,000 known rare diseases that affect more than 300 million people. In 2022, the…
The richness and diversity of the gut’s microbial community, or microbiota, are significantly reduced in people with hereditary angioedema (HAE) who have had recent swelling attacks, when compared with that of healthy individuals, a single-center study in China shows. This difference was particularly pronounced among HAE patients with gastrointestinal…
Spanish patients with hereditary angioedema reported fewer severe attacks and longer delays for treatment with Firazyr (icatibant injection) compared with patients from other countries, a retrospective analysis shows. Patients in Spain also reported longer‐lasting attacks. Overall, these findings from the Icatibant Outcome Survey highlight differences in disease management…
Favipiravir, an antiviral medication used to treat influenza and, more recently, COVID-19, may trigger angioedema in some individuals, a case study says. The report was published as a clinical commentary, titled “Angioedema After Favip[i]ravir Treatment: Two cases,” in the Journal of Cosmetic Dermatology. Angioedema, a condition characterized…
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