Mathew Shanley

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.

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.

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.

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).

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).

Parent Project Muscular Dystrophy announced that the first patient with Duchenne muscular dystrophy has been dosed with microdystrophin gene therapy.

A study published this week in the Orphanet Journal of Rare Diseases confirmed the importance of genetic findings in the diagnosis of Marfan syndrome.

Faron Pharmaceuticals announced this morning that the U.S. FDA has approved the Investigational New Drug application for Traumakine (FP-1201-lyo) for the treatment of Acute Respiratory Distress Syndrome.