Rare Disease Report®

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.

Patients with dystrophic epidermolysis bullosa face near-constant pain and discomfort. While there are several measures clinicians have to help them, a curative treatment remains elusive.

An entire population gradually loses their vision, impeding everyday activities like driving in the dark, while investigators explore gene therapies in a race against the clock.

Is the prevalence of cardiac involvement in patients with sarcoidosis underestimated? Advanced imaging could lead to illuminating discoveries.

A silent disease characterized as a chronic cutaneous neuropathy, notalgia paresthetica has an unmet need yet to be fully understood and, dermatologists argue, an FDA-approved treatment could help improve understanding of the etiology and prevalence of this disease.

The treatment is a first-in-class peptide derived from mTB Chaperonin 60.1 that is often involved in resetting the immune system. The treatment is being evaluated in patients with eosinophilic esophagitis and allergen sensitivity.

While nipocalimab is under consideration as the first marketed drug for HDFN, clinicians consider the importance of awareness and dedicated research into the rare disease.

Phase 2/3 data show significant improvement in lymphoproliferation as measured by the reduction in lymph node size and increase in naïve B cells in patients with activated phosphoinositide 3-kinase delta syndrome.

Data from a meta-analysis show late gadolinium enhancement (LGE) on cardiac MRI scans and elevated fluorodeoxyglucose (FDG) uptake on PET scans are both strong predictors of major adverse cardiac events for cardiac sarcoidosis.

Where access to healthcare is limited, the impact of diagnostic bias based on skin tone can result in a greater burden of disease and even more deaths, especially for Black individuals.

New data demonstrates that onasemnogene abeparvovec is an effective treatment option for symptomatic and presymptomatic patients with spinal muscular atrophy (SMA).

“We have now seen consistently across the program the potential to quite meaningfully reduce Phe levels in patients with PKU," lead investigator Dr. Jerry Vockley says in a statement.

While this population was previously thought to be unaffected, studies within the last few years have shown that women with hemophilia experience joint and bleeding problems.

After a year of treatment with once-weekly antihemophilic factor (recombinant), Fc-VWF-XTEN Fusion Protein-ehtl, results show patient pain was significantly reduced and quality of life significantly increased.

Findings from the study emphasize the importance of disseminating knowledge and education to reduce disease burden after examining healthcare students' knowledge and attitudes towards sickle cell trait (SCT) screening in Ghana.

Treatment with trofinetide (DAYBUE) demonstrated statistically significant improvement in the phase 3 LAVENDER study evaluating the drug's safety and efficacy.

Results of a recent study showed that the risk of pneumocystis jiroveci pneumonia (PJP) is low in patients with giant cell arteritis (GCA) and polymyalgia rheumatica (PMR), therefore discouraging the routine prescribing of PJP prophylaxis for this patient population.

Medicaid enrollees with sickle cell disease have limited access to clinical trials and out-of-state benefits. Barriers to treatment are multifaceted and occur at different levels of care.

Dr. Margaret Ragni discusses the FDA approved, first-in-class, factor VIII replacement therapy, antihemophilic factor (Recombinant), Fc-VWF-XTEN Fusion Protein-ehtl, previously known as efanesoctocog alfa.

Approximately 42% of prodrome-associated DEGs were also associated with hereditary angioedema attacks, indicating that multiple enriched gene networks with common hub genes and upstream regulators are shared between the prodromal and acute attack stages.