Rare Disease

Due to the frequent rejection of claims for noninvasive ventilators by Medicare Advantage plans, individuals with amyotrophic lateral sclerosis (ALS) are experiencing disproportionately high rates of hospital admissions.

Ruben A. Mesa, MD, president and executive director of Atrium Health Levine Cancer Institute and Atrium Health Wake Forest Baptist Comprehensive Cancer Center, discusses key challenges and opportunities for improving cancer care among rural and minority patients.

Pooled phase 3 data presented at North American Society for Pediatric Gastroenterology, Hepatology & Nutrition 2023 support the benefit-risk profile of the ileal bile acid transport inhibitor in treating the rare liver disease.

Patient input and experiences play a crucial role in advancing rare disease research and therapy development, as they help define the disease, inform clinical trial design, and influence regulators and payers' decisions, ultimately serving as catalysts for innovation in the field.

Researchers highlighted the potential long-term consequences of COVID-19 on incident autoimmune and autoinflammatory connective tissue disorders in a recent study.

Leaders from Every Cure and Moonshots for Unicorns highlight their work toward finding treatments for rare diseases currently without a cure.

Children of all ages with achondroplasia are now included in the expanded Indication, the most common form of skeletal dysplasia leading to disproportionate short stature.

Of the 333 patients with psoriatic arthritis (PsA) and 457 patients with axial spondyloarthritis (axSpA), there were 1.09 serious infections per 100 patient-years.

This group of cancers remains a challenge to diagnose, can be rapidly progressive, and requires complex treatment and follow-up care, research suggests.

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.

Ruben A. Mesa, MD, FACP, president and executive director of Atrium Health Levine Cancer Institute (LCI) and Atrium Health Wake Forest Baptist Comprehensive Cancer Center, discusses how practices can improve access and affordability to treatments for rare cancers, such as myeloproliferative neoplasms.

Nedosiran (Rivfloza) was approved for children and adults with primary hyperoxaluria type 1 (PH1), according to drugmaker Novo Nordisk.

One meta-analysis featuring 8 studies showed that more than half of patients reported a 100% reduction in their generalized tonic-clonic seizures or tonic-clonic seizures.

Ryan Haumschild, PharmD, MS, MBA, director of pharmacy at Emory Winship Cancer Institute, shares his unique perspectives as both a provider and payer on the use of prior authorizations (PAs) and "Gold Cards" in patients with rare diseases.

Several trial participants experienced concerning hepatobiliary events.

Ryan Haumschild, PharmD, MS, MBA, director of pharmacy at Emory Winship Cancer Institute, discusses treatment options available to patients with rare diseases, as well as the challenges these patients and their pharmacists face in accessing these treatments.

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

Despite conventional guidelines, Mohs micrographic surgery (MMS) may be more effective than wide local excision (WLE) for treatment of localized tumors.

While the challenges in affordability and accessibility emphasize the importance of early awareness and interventions, equitable access to the screening itself poses a crucial hindrance.

Catherine Nester, RN, vice president of physician and patient strategies at Inozyme Pharma, highlights the importance of newborn screening for rare diseases and the impact of the BeginNGS diagnostic tool.

This rare adverse effect was witnessed in a small number of people post vaccine administration.

Condition-specific support is needed among patients living with rare disease and their family members.

The rare disease can cause burning, stabbing, or shooting pain in patients.

Patients with Prader-Willi syndrome showed early signs of microvascular disease upon screening.

Many health care providers are not aware of alpha-gal syndrome, an allergic condition with a wide range of symptoms, a study suggests.

The greatest reduction in skeletal muscle mass was in the lower extremities, a new report shows.

While antibiotic treatment is highly effective, soft rick relapsing fever (STRF) can result in severe health complications, including death, if not treated in a timely manner.

The retrospective study of patient hospital data showed that current approaches to identifying a culprit drug often overidentify drugs unlikely to be responsible for Stevens-Johnson syndrome/toxic epidermal necrolysis (SJS/TEN) while potentially missing the actual culprit.

Franco Locatelli, MD, PhD, head of the Department of Pediatric Hematology and Oncology at IRCCS Bambino Gesu Children’s Hospital in Rome, discusses the treatment of both adult and pediatric patients with chronic graft versus host disease (cGvHD).