Rare Disease

Novel Approach Fusing Top Neck Vertebrae Shows Promise in Bow Hunter Syndrome

March 10th 2021, 9:09pm


Study findings detail the researchers’ ability to prevent stroke in 11 patients ranging in age from 18 months to 15 years

FDA Approves First Treatment for Rare Genetic Metabolic Pediatric Disorder

March 2nd 2021, 4:30pm


The disorder known as molybdenum cofactor deficiency (MoCD) Type A presents shortly after birth, often with severe encephalopathy and intractable seizures.

Spending on Orphan Drugs for Common Diseases? Not Rare at All, Study Says

March 1st 2021, 9:00pm


Most orphan drug spending does not actually go to patients with rare diseases, a new study shows.

GWAS Uncovers Variants Associated With Increased Risk of Addison Disease

February 27th 2021, 1:15pm


Researchers identified variants of 9 genes that increase the risk of developing the rare disease.

Review Highlights Potential of Nanotherapies in Diagnosing, Treating Rare CNS Diseases

February 26th 2021, 3:00pm


Nanotherapies have the potential to overcome the blood-brain barrier and the blood-cerebrospinal fluid barrier, representing a possible treatment opportunity for rare diseases.

Exploring the Implementation of Quality Care Programs for Patients with Myeloproliferative Neoplasms

February 24th 2021, 5:00am


Bruce Feinberg, DO; Kathy Oubre, Michael Reff, RPh, MBA; Jamile M. Shammo, MD; and Ruben Mesa, MD, discuss the incorporation of quality care programs for improved disease management and patient care for MPNs.

FDA Grants Ruxolitinib Priority Review to Treat Chronic GVHD

February 23rd 2021, 4:30pm


The FDA has granted priority review of the supplemental New Drug Application for ruxolitinib for the treatment of steroid-refractory chronic graft-versus host disease (GVHD).

Top 5 Most-Read Rare Disease Stories of 2020

December 26th 2020, 3:00pm


The top 5 most-read stories of 2020 about rare diseases on AJMC.com focused mainly on new and noteworthy treatment options for a variety of conditions.

Dr Clarence Moore Discusses Patient Accessibility to Beta Thalassemia Treatments

December 21st 2020, 12:00pm


Clarence Moore, PharmD, BCPS, BCOP, assistant professor at Shenandoah University in Ashburn, Virginia, discusses whether treatment methods for beta thalassemia are accessible to patients.

What We’re Reading: AstraZeneca to Buy Alexion; CDC Guidance on Vaccine, Allergy Concerns; First Vaccines Headed to States

December 14th 2020, 3:39pm


AstraZeneca has agreed to acquire Alexion Pharmaceuticals for $39 billion; CDC issues coronavirus disease 2019 (COVID-19) vaccine guidance for those with a history of severe reactions to vaccines; 2.9 million COVID-19 vaccine doses began traveling this past weekend to all 50 states.