RDR Alert®

The new test should replace the water deprivation test as the new standard of care, investigators say.

A team of investigators at Cleveland Clinic discover a novel subtype of multiple sclerosis which features neuronal loss but no demyelination of the brain’s white matter.

The FDA grants RMAT designation to AT132 for the treatment of patients with X-linked Myotubular Myopathy.

A rapid genetic diagnostic tool coupled with a sustained release therapeutic is being developed for lower-grade gliomas by a team of investigators.

The FDA has approved stiripentol (Diacomit) for the treatment of seizures associated with Dravet syndrome, a rare form of epilepsy.

The FDA has approved pembrolizumab to be used in combination with pemetrexed and platinum as first-line treatment for patients with metastatic, non-squamous non-small cell lung cancer, with no EGFR or ALK genomic tumor aberrations.

The FDA has granted an orphan drug designation to Immune Pharmaceuticals, Inc.’s bertilimumab for the treatment of bullous pemphigoid.

The FDA accepts Alexion Pharmaceutical Inc.’s BLA for review for approval of ALXN1210 for the treatment of patients with paroxysmal nocturnal hemoglobinuria.

The FDA has granted an orphan drug designation to ASLAN Pharmaceuticals’ ASLAN003 for the treatment of acute myeloid leukemia.

The FDA has granted a fast track designation to gene therapy product candidate AAV-CNGB3 for the treatment of achromatopsia caused by mutations in the CNGB3 gene.

The FDA has approved Bristol-Meyers Squibb Company’s nivolumab (Opdivo) for the treatment of metastatic small cell lung cancer (SCLC) that has progressed after platinum-based chemotherapy and at least 1 other line of therapy.

Stay up-to-date on the latest rare disease news by reading the top 5 articles of the week.

Pauline Funchain MD, explains how better understanding of genetics can help shape future treatments for rare cancers.

Investigators from the University of Adelaide, in Australia, have found that corrected and healthy airway stem cells can replace the ones that cause cystic fibrosis and combat the genetic disorder.

A peer-reviewed manuscript outlines the preclinical validation for the use of QR-110 in the treatment of Leber’s congenital amaurosis 10 (LCA10).

The FDA granted an orphan drug designation to Rafael Pharmaceuticals, Inc.’s CPI-613 for the treatment of peripheral T-Cell lymphoma (PTCL).

The FDA has approved lenvatinib capsules (Lenvima, Eisai Inc.) for first-line treatment of patients with unresectable hepatocellular carcinoma.

A new study has identified a genetic mutation that makes individuals with epidermodysplasia verruciformis more susceptible to human papillomavirus.

The FDA has granted an orphan drug designation and a rare pediatric disease designation to Wave Life Sciences Ltd.’s WVE-210201 for the treatment of Duchenne muscular dystrophy (DMD).

The FDA has approved ivacaftor (KALYDECO) as the first and only medicine to treat the underlying cause of cystic fibrosis in children ages 12 to

This is the first time that more than one gene has been implicated as the cause of spondylocarpotarsal synostosis syndrome.

Relatives of individuals with certain types of blood cancer may harbor inherited genetic changes that could influence their risk of developing diseases that arise from myeloid cells.

The phase 2 STARS trial evaluating OV101 as a treatment for Angelman syndrome achieves its primary endpoint of safety and tolerability.

The first patients have been treated in a phase 2 trial evaluating ALLN-177 in adults and adolescents with primary hyperoxaluria or enteric hyperoxaluria with advanced chronic kidney disease (CKD) and elevated plasma oxalate.