Rare Disease

bluebird bio Receives FDA Accelerated Approval for Rare Brain Disease Gene Therapy

September 19th 2022, 5:15pm


The gene therapy is the first treatment for active cerebral adrenoleukodystrophy, a fatal neurodegenerative disease that affects boys.

Early Timing, Optimal Conditioning Maximize Outcomes of Allo-SCT in MDSs and MPNs

September 13th 2022, 4:01pm


A review published in Frontiers in Oncology explored the application of allo-SCT for myelodysplastic syndromes and myeloproliferative neoplasms.

What We’re Reading: TX Judge Rules Against ACA PrEP Coverage; FDA Advisers Recommend ALS Drug Approval; Walmart, UnitedHealth Partnership

September 8th 2022, 2:59pm


A Texas judge ruled that HIV pre-exposure prophylaxis (PrEP) coverage under the Affordable Care Act is unconstitutional; an FDA advisory panel recommended the approval of an experimental drug for amyotrophic lateral sclerosis (ALS); Walmart and UnitedHealth Group are collaborating to provide preventive health care for older Americans.

Guidelines Needed for Managing MPNs in AYA Patients, Review Says

September 5th 2022, 1:03pm


The management of myeloproliferative neoplasms (MPNs) in adolescent and young adult (AYA) patients is currently similar to that of older patients. However, comprehensive research is needed to form guidelines for this younger population.

What We’re Reading: FDA Approves First ASMD Treatment; Amended EUA for COVID-19 Boosters; Blood Type and Stroke Risk

September 1st 2022, 2:50pm


Olipudase alfa (Xenpozyme) was granted FDA approval for patients with Acid Sphingomyelinase Deficiency (ASMD); Moderna and Pfizer-BioNTech’s bivalent COVID-19 vaccines are each authorized for use as a booster dose; people with type A blood have an 18% higher risk of stroke before age 60, compared with other blood types.

FDA Approves Pemigatinib for Myeloid/Lymphoid Neoplasms With FGFR1 Rearrangement

August 26th 2022, 7:36pm


The FDA Friday approved pemigatinib (Pemazyre), a selective fibroblast growth factor (FGFR) inhibitor, to treat adults who have relapsed or refractory (R/R) myeloid/lymphoid neoplasms (MLNs) with FGFR1 rearrangement, a very rare and aggressive cancer.

Better HRQOL, Health Literacy Seen in Systemic Mastocytosis vs Mast Cell Activation Syndrome

August 22nd 2022, 11:19am


Systemic mastocytosis and mast cell activation syndrome both negatively impact health-related quality of life (HRQOL), with mast cell activation syndrome patients reporting more significant impacts on everyday life.

Risk of Pediatric Neuropsychiatric Conditions Linked to Rare Genomic Variants, Intellectual Disability

August 15th 2022, 1:28pm


Early genomic testing could identify the children who are most at risk and provide opportunities to intervene as early as possible.

Review: Fine-Tuning Sinonasal Cancer Management Requires Increased Awareness and Further Clinical Studies

August 7th 2022, 6:20pm


The rarity of sinonasal cancers presents various challenges for advancing disease management.

NCCN Publishes Guidelines for Deadly Pediatric CNS Tumors

August 4th 2022, 8:55pm


The recommendations follow the World Health Organization’s recent update to its classifications of central nervous system (CNS) tumors to now include a structure for pediatric patients with CNS tumors.