RDR Alert®

Amicus presented additional positive results from the company’s Phase 1/2 clinical study of ATB200/AT2221 in patients with Pompe disease in a late-breaker poster and a corresponding oral presentation.

Today at the WORLDSymposium in San Diego, Valerion Therapeutics presented initial results from the first cohort of its ongoing Phase 1/2 clinical study of VAL-1221 in patients with late-onset Pompe disease.

At the 14th Annual WORLDSymposium, interim data from two open-label studies were presented, exhibiting a 3-year survival estimate of 68% in infants with rapidly progressing LAL-D treated with sebelipase alfa.

Children’s Hospital Los Angeles (CHLA) has announced that it will be participating in a new clinical trial with the hopes of improving quality of life (QOL) outcomes for children with hypoplastic left heart syndrome (HLHS), a congenital heart defect in which the left ventricle is severely underdeveloped.

The FDA has granted Breakthrough Therapy Designation to Zogenix’s drug ZX008, a therapy intended to treat seizures associated with Dravet syndrome.

The infographic on this page will take you from the inception of Rare Disease Day to present day.

The U.S. FDA has granted Capricor Therapeutics RMAT designation for its lead investigational cell therapy for the treatment of Duchenne muscular dystrophy, CAP-1002.

Jupiter Orphan Therapeutics announced this morning that it intends to submit an Investigational New Drug application to the U.S. FDA for Jotrol in MPS I, among other indications, within the next few weeks.

Fibrocell Science announced the submission of an Investigational New Drug Application with the U.S. FDA for FCX-013, a gene therapy candidate for the treatment of moderate to severe localized scleroderma.

The director of the Ara Parseghian Medical Research Fund promoted the organization’s new initiatives to raise money for NPC1 research during an address to Notre Dame’s student senate this week.

Yesterday, nonprofit organization BioPontis Alliance and Massachusetts General Hospital, the largest hospital-based research program in the United States, announced an agreement to target new treatments for Huntington’s disease.

New research suggests that there could be a possible connection between CTE and ALS.

Alnylam has announced this afternoon that the U.S. FDA has accepted for filing its New Drug Application for patisiran, an investigational RNAi therapeutic targeting transthyretin for the treatment of hATTR amyloidosis.

AVROBIO, Inc. announced that it has completed a $60-million Series B financing, of which proceeds will be used to advance several gene therapies.

Vertex announced that VX-659 and VX-445 are being advanced into Phase 3 development as part of triple combination regimens for people with cystic fibrosis.

Rockefeller University scientists have observed the effects of Huntington’s disease in neurons as early as conception, and suggest therapies that block HTT protein activity may be doing more harm than good.

Rare pediatric disease designation was granted by the FDA to MeiraGTx’s A002 (ZZV2/8-hCARp.hCNGB3) for achromatopsia.

Zogenix announced that the last patient has been randomized into the treatment period of Study 1504, its second Phase 3 clinical trial evaluating ZX008 in Dravet syndrome.

Results from a study recently published in the Orphanet Journal of Rare Diseases confirms the idea that tuberous sclerosis complex (TSC) can be diagnosed before seizure onset.

NBC News chief foreign correspondent Richard Engel's most demanding role has taken place off-camera. He and his wife, Mary Forrest, support each other in raising their 2-year old son, Henry, a patient with Rett syndrome.

The first patient was enrolled in Mallinckrodt’s Phase 4 pilot study to further assess the efficacy of H.P. Acthar Gel (Repository Corticotropin Injection) in patients with pulmonary sarcoidosis.

This morning, Aquestive Therapeutics, Inc. announced that the U.S. FDA has granted orphan drug designation to Riluzole Oral Soluble Film (riluzole OSF) for the treatment of ALS.

In an effort to raise awareness about the rare disease community, ORDI is organizing the Race for 7 run.

Amgen announced that the Committee for Medicinal Products for Human Use (CHMP) of the European Medicines Agency has adopted a positive opinion for recommending a label variation for Kyprolis (carfilzomib).