RDR Alert®

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.

Shaquem Griffin, rare disease survivor and linebacker for the University of Central Florida football team, has received an invitation to the NFL combine.

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).

This morning, Fibrocell Science, Inc. announced that the U.S. Food and Drug Administration (FDA) has granted the company allowance to begin enrollment in the Phase 2 portion of its Phase 1/2 clinical trial of FCX-007.

Results from an observational case series published in the Orphanet Journal of Rare Diseases conclude that ezetimibe can be an effective, safe, and sustainable treatment option for LAL-D.

PTC Therapeutics has announced that Part 1 of the FIREFISH study has shown that RG7916, a Type 1 spinal muscular atrophy (SMA) drug, to be safe and well-tolerated in infants and babies with Type 1 SMA.

Emmaus Life Sciences has announced that it has a Medicaid Drug Rebate Agreement with the Centers for Medicare and Medicaid Services, allowing coverage of Endari (L-glutamine oral powder).

The Canadian Agency for Drugs and Technologies in Health organization’s Common Drug Review protocol often leaves rare disease patients in British Columbia without governmental payment coverage for their expensive treatments.

As the Myanmar military’s genocidal actions continue to displace Rohingya refugees, the persecuted minority group is experiencing the largest diphtheria outbreak since the 1920s.

This morning, Abeona Therapeutics announced that the U.S. Food and Drug Administration granted EB-101, its gene therapy for epidermolysis bullosa, Regenerative Medicine Advanced Therapy designation.

This morning, Aradigm announced that it received a Complete Response Letter, denying its New Drug Application for Linhaliq.

Alnylam announced that its Marketing Authorisation Application for patisiran was accepted by the European Medicines Agency.

Novartis has received U.S. FDA approval for lutetium (177Lu) oxodotreotide (Lutathera) for the treatment of somatostatin receptor positive GEP-NETs.

New data concludes that neurofeedback training could potentially increase brain connectivity in patients with Huntington’s disease (HD).

The latest #ALSPepperChallenge video comes from Rare Disease Report. Participate today to raise awareness for ALS.

Rare Disease Report sat down with acute intermittent porphyria patient Nichol Kirby who was diagnosed in 2015 and accused of being a drug seeker looking to feed an opioid addiction.

The peer-reviewed clinical journal Neurology has published the Phase 2 trial results for arimoclomol in patients with SOD1 amyotrophic lateral sclerosis (ALS).