Rare Disease Report®

Announced by Ionis Pharmaceuticals, topline results show olezarsen met the study's primary endpoint with a statistically significant reduction in triglyceride levels versus placebo.

Crinetics announced findings from the PATHFNDR-1 trial showing the investigative oral daily drug may provide patients with the rare disease an alternative from recurring injection therapy.

The FDA approval of pozelimab (Veopoz) makes it the first and only treatment indicated for children and adults with CHAPLE disease.

Phase 3 data show a significant clinical profile associated with durable reductions in IgA nephropathy biomarkers among patients treated with Nefecon.

Granted to Ipsen, the breakthrough treatment reduces new, abnormal bone growth in people living with the ultra-rare bone disease.

Reports of a half-dozen confirmed cases of the rare vision-threatening condition has spurred conversation around the first-in-class geographic atrophy drug.

This approval is the first for an FLT3 inhibitor and it's specifically indicated for patients who have FLT3-ITD.

A year of research emphasizes the significance of collaboration, standardized approaches, and targeted therapies in rare pulmonary diseases.

If approved, OFEV (nintedanib) would be the first and only approved treatment for children and adolescents aged 6-17 years old with fibrosing interstitial lung disease.

New Study Reveals Efficacy of Bevacizumab in Treating Severe Cases of Pulmonary Papillomatosis.

Investigators aimed to support extending the US FDA labeling of Xembify to include the biweekly dosing option, therefore, providing greater flexibility and convenience for patients managing their immunodeficiencies.

The findings show liver complications and cirrhosis as major causes of morbidity in patients with SCD, with implications for treatment and care.

Experts emphasize the fundamental principles of integrative care, the success seen in treating rare diseases, and how it can be applied to all chronic diseases.

Dr. Juliana Biondo discusses what the future of treatment for hemophilia A looks like based on ongoing trials.

Dr. Juliana Biondo discusses the exciting FDA approval of Roctavian and how it compares with other treatment options like Hemlibra.

While the FDA decision of Roctavian offers patients with hemophilia A more options, the gene therapy eligibility criteria still pose barriers.

Despite concerns, Dr. Margaret Ragni discusses the significance of the Roctavian's effectiveness for reducing hemophilia A bleeds and improving patient quality of life.

The approval is supported by positive results from the largest and longest phase 3 study for gene therapy in hemophilia, showing a 52% reduction in annualized bleeding rate compared with baseline rates on routine prophylaxis.

Significant improvements seen in hematologic parameters, visceral volumes, and plasma biomarkers in patients with Gaucher disease, suggesting its potential as an alternative therapy, particularly for those who cannot access enzyme replacement therapy.

Janssen reported significant benefit, and a tolerable profile, for the investigative drug that may become the first indicated to treat HDFN.

COVID-19 vaccination in patients with cystic fibrosis generates antibody responses similar to those in the general population, according to a recent study

Findings show patients hospitalized for COVID-19 have an increased 1-year risk of venous thromboembolic disease compared with those hospitalized for influenza (HR, 1.77; 95% CI, 1.36-2.31).

According to investigators, this is among the largest studies describing the risk of bacteremia in young patients with sickle cell disease.

Among other associations, those in educational attainment, employment status, mental health, and pain episode frequency and severity highlight the need for comprehensive care that considers the psychological well-being of individuals with SCD.

The approval makes odevixibat the second IBAT inhibitor approved for the rare genetic disease, with capability to benefit both liver damage and itch symptoms.

The IBAT inhibitor will receive an FDA decision by next week. Ovchinsky reviews its supporting data for benefitting patient pruritus, sleep, and liver bile acid levels.

An emerging drug class is proving viable for burdensome symptoms, as well as liver failure, in pediatric patients with the rare inherited disease.

Gain-of-function STAT4 variants in patients with disabling pansclerotic morphea suggest a potential therapeutic role for JAK inhibition, resulting in improved clinical symptoms and inflammatory markers.