Rare Disease Report®

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.

Celularity's clinical trial of CYNK-001 for relapsed and refractory AML showed excellent tolerability, significant graft-versus-leukemia effects, and potential for flexible therapeutic development.

The phase 3 clinical trials evaluating ziritaxestat for treating idiopathic pulmonary fibrosis showed no improvement in clinical outcomes leading to the termination of the trials due to lack of efficacy.

In 2022, dupilumab became the first treatment approved by the US Food and Drug Administration for the treatment of patients with EoE.

The genetic rare disease is characterized by a greater risk of premature mortality and worsened quality of life. Emerging IBAT inhibitors are helping address both issues.

The FDA approval comes with supporting data showing the ERT's non-inferiority to agalsidase beta in controlled eGFR decline.

The long-term extension SENSCIS-ON trial shows patients receiving nintedanib over 3 years were not at significantly greater risk of serious adverse events or outcomes.

An analysis of national data shows Asian and male patients are at worse risk of mortality, however.

An analysis of data from the National Inpatient Sample offers an overview of risk for adverse delivery outcomes associated with Takayasu arteritis among a real-world cohort of US-based patients.

Dupilumab became the first approved treatment for eosinophilic esophagitis in 2022.

The announcement resulted from the FDA’s request for manufacturing, administration, and patient monitoring information.

Patients with myasthenia gravis have a higher risk of COVID-19-associated emergency department visits, hospital admissions, and 30-day mortality, but vaccination acceptance rate was high among the population

Qualitative findings show children with sickle cell disease have the desire to feel normal and utilize personal strengths to manage their condition.

The FDA requests no additional safety or efficacy data, the extension will provide time for the agency to review updates to the proposed Risk Evaluation and Mitigation Strategies (REMS) included in the application.

There was an increase in depression in the cystic fibrosis group, as well as an increase in anxiety in cystic fibrosis caregivers during the pandemic.

Results show a high level of adherence to hydroxyurea medication is essential for lowering the incidence of negative clinical outcomes like VOCs and acute chest syndrome in children with sickle cell anemia.

Individuals with sickle cell disease report a higher rate of infertility than the general population, but seeking fertility care treatment is lower.

Investigators address 2 questions: How can we better understand the biology of these rare disorders? How can we stimulate research and optimize the regulatory process to improve diagnosis and targeted treatment?

Positive phase 2 data from 2 studies on the investigational monoclonal antibody felzartamab designed to deplete CD38+ plasma cells, demonstrated reduced pathogenic antibody levels in primary membranous nephropathy.

Investigators identify factors that may affect the probability of diagnosis in an evaluation of over 13,500 families with probands with severe developmental disorders.

From a novel topical gene therapy to a multi-pathway targeting HF drug, the second quarter of 2023 is laden with interesting regulatory decisions.

The monthly prophylactic injection reduces bleeds by interfering with the production of specific proteins for both types of hemophilia with or without inhibitors.

Data suggest confirmatory trials conducted for drugs granted accelerated approval by the FDA have taken a median 3.5 years to complete since 2012.