RDR Alert®

The first patient was enrolled in a Phase 3 clinical trial of amifampridine phosphate (Firdapse) in patients with mmuscle-specific kinase (MuSK) antibody positive myasthenia gravis (MuSK-MG).

Dystrophic epidermolysis bullosa (DEB) treatment granted OMPD in Europe.

According to data presented at the Annual Neuromuscular Translational Research Conference, researchers found that repeat dosing of CAP-1002 results in increased exercise performance in a disease model of Duchenne muscular dystrophy.

At the most recent American Lung Association LUNGFORCE expo, RDR sat down with Carly Ornstein to discuss the new resources made available by the ALA to individuals affected by lung fibrosis.

The first patient was dosed in X-linked retinitis pigmentosa (XLRP) treatment.

Positive Phase 1b/2a trial results for RT001 in patients with Friedreich’s ataxia were published this morning in the online journal Movement Disorders.

This morning, the FDA granted Orphan Drug Designation to KL1333 for the treatment of inherited mitochondrial respiratory chain diseases (MRCD).

A survey recently conducted among adults with hereditary spastic paraparesis showed that constipation, alternate constipation and diarrhea, fecal incontinence, and voiding dysfunction are among the considerable problems faced by the patient population.

Rigel announced that the U.S. FDA approved fostamatinib disodium hexahydrate (Tavalisse) tablets for the treatment of thrombocytopenia in adult patients with chronic immune thrombocytopenia.

FDA grants Breakthrough Therapy Designation to emicizumab-kxwh (Hemlibra) for people with hemophilia A without factor VIII inhibitors.

Burosumab (Crysvita) was approved this morning by the U.S. FDA to treat adults and children ages 1 year and older with x-linked hypophosphatemia (XLH), a rare genetic variation of rickets.

This morning, Shire announced the expanded U.S. FDA approval of Vonvendi, a recombinant von Willebrand factor, for the treatment of bleeding in adults with von Willebrand disease in surgical settings.

Can the Epstein-Barr virus cause autoimmune illnesses?

Data presented at the 2018 American Association for Cancer Research Annual Meeting show that a new combination could provide long-term, systemic responses in patients with advanced melanoma.

This morning, the U.S. FDA provided full approval to Boehringer Ingelheim for idarucizumab (Praxbind), its specific reversal agent for dabigatran etexilate mesylate (Pradaxa).

FDA approves the development of VAR 200 for the treatment of focal segmental glomerulosclerosis (FSGS) in adults.

FDA exercises enforcement discretion regarding its ExeGen ATM MiniSwine model, clearing the genetically engineered (GE) to model ataxia telangiectasia (AT) for commercial use as a research tool.

This morning, Galapagos announced the design of its global Phase 3 program of GLPG1690 in patients with idiopathic pulmonary fibrosis (IPF).

The angle of the superior cerebellar artery outlet can be useful for monitoring the progression of basilar artery dolichoectasia in patients with Pompe, according to results in the Orphanet Journal of Rare Diseases.

Positive clinical results from Phase 1 and Phase 1/2 open-label extension studies of givosiran were presented by Alnylam at the European Association for the Study of the Liver 53rd Annual International Liver Congress.

On Thursday, GlaxoSmithKline (GSK) announced that it will be transferring its portfolio of approved and investigational gene therapies to Orchard Therapeutics in exchange for a 19.9% stake in the company.

Positive pre-clinical data is released regarding BGB601 for the treatment of fibrosis, idiopathic pulmonary fibrosis (IPF), and non-alcoholic steatohepatitis (NASH).

NGM Bio announced this morning that it will be highlighting data from its Phase 2 clinical trial of NGM282 in patients with primary sclerosing cholangitis at The International Liver Congress.

Deborah Brown, Chief Mission Officer of the American Lung Association (ALA), discusses the ALA’S most recent LUNG FORCE Expo in Cherry Hill, New Jersey, 2018.

The U.S. FDA granted Fast Track Designation for RP6530 (Tenalisib). Rhizen Pharmaceuticals S.A. is developing the drug for the treatment of patients with relapsed and/or refractory cutaneous T-cell lymphoma.

Marshall Summar, chief of the Division of Genetics and Metabolism at Children’s National Health system, discusses the success of the Children’s National Rare Disease Institute in 2018.

Dawn Laney, MS, CGC, CCRC, Assistant Professor and Director, Emory Genetic Clinical Trials Center, talks misdiagnosis in Fabry disease through a case study.

Pat Quinn, ALS Ice Bucket Challenge co-founder, rediscovers his voice.

Pfizer announced that it has begun a Phase 1b clinical trial for PF-06939926, its mini-dystrophin gene therapy candidate, intended for boys with Duchenne muscular dystrophy.