RDR Alert®

The first patient has been dosed in aphase 1/2 study (BMN 270-203) evaluating the investigational gene therapy, valoctocogene roxaparvovec, in severe hemophilia A patients with pre-existing AAV5 antibodies.

Susan Weisman, a light chain (AL) amyloidosis caregiver for her husband since 2009, touches on a few of her husband's treatments in an approximate timeline.

FDA Approves SC Formulation of Tocilizumab for Polyarticular Juvenile Idiopathic Arthritis (PJIA).

LogicBio Therapeutics Inc will present data regarding gene editing technologies in hemophilia B and Methylmalonic Acidemia (MMA) at the annual meeting of the ASGCT in Chicago.

Soleno announced this morning that its multi-center Phase 3 clinical trial of Diazoxide Choline Controlled-Release (DCCR) tablets for the treatment of Prader-Willi Syndrome has been initiated. The potential therapy is first being evaluated at the Seattle Children’s Hospital.

Late Friday afternoon, Novartis announced that the U.S. FDA approved fingolimod (Gilenya) to treat relapsing multiple sclerosis (MS) in children and adolescents age 10 years and older.

Heather Landau, M.D., Assistant Attending Physician at the Memorial Sloan Kettering Cancer Center, explains AL Amyloidosis. In this video, she describes in detail the clinical definition of the disease, what organs are affected, and early presentation.

Columbia University researchers believe CRISPR technology could also restore retinal function in the degenerative disease retinitis pigmentosa.

Results from a study recently published in The Lancet Neurology describe in detail a 16-year follow up of patients with hemophilia A who were treated with frequency-escalated prophylaxis.

AMO Pharma Limited announces the commencement of patient recruitment for an interventional study of AMO-01, an investigational Ras-ERK pathway inhibitor for the treatment of Phelan-McDermid syndrome (PMS).

Today, the Endocrinologic and Metabolic Drugs Advisory Committee (EMDAC) voted 12-8 in favor of approval of volanesorsen (Waylivra) for the treatment of familial chylomicronemia syndrome (FCS).

On May 17th, the National Organization of Rare Disorders (NORD) will host its 2018 Rare Impact Awards in Washington, DC at the Andrew W. Mellon Auditorium.

The first patient has been dosed in the Phase 1/2 clinical trial of its drug, KB103, for the treatment of dystrophic epidermolysis bullosa (DEB).

Findings from a study uncovered genetic subtypes of DLBCL with distinct genotypic, epigenetic, and clinical characteristics, providing a potential nosology for precision-medicine strategies in diffuse large B-cell lymphomas.

Last night, SELLAS Life Sciences Group, Inc. announced that the U.S. FDA has granted orphan drug designation to galinpepimut-S (GPS) for the treatment of multiple myeloma.

Cellectar Biosciences has announced that the U.S. FDA granted orphan drug designation to CLR 131 for the treatment of rhabdomyosarcoma, a rare pediatric cancer.

Study show blocking FOXM1 can reduce the activation of fibroblasts as well as the process of idiopathic pulmonary fibrosis (IPF) itself.

New data revealed by the Tufts Center for the Study of Drug Development concludes that orphan drug development takes 18% longer than the average time required for other new drugs.

Results show that blade plates or intramedullary nails placed via surgery can be effective treatments for patients with fibrous dysplasia of the proximal femur.

Rare Disease Report sat down with AdAlta CEO Sam Cobb to discuss the impetus for the redesign of AD-214, and what it means for those in the idopathic pulmonary fibrosis.

Biohaven Pharmaceutical has established an expanded access program (EAP) with sublingual BHV-0223 for patients with amyotrophic lateral sclerosis (ALS).

The US FDA has granted Palladio Biosciences Investigational New Drug (IND) clearance to proceed with a Phase 2 clinical trial of lixivaptan capsules in patients with autosomal dominant polycystic kidney disease (ADPKD).

DNAtrix will report data from an ongoing Phase 1 trial of DNX-2401 in pediatric patients with newly diagnosed diffuse intrinsic pontine gliomas (DIPG), which indicated efficacy through a prolonged survival rate.

Results from the phase 3 FACETS trial showed that migalastat improved diarrhea in patients with Fabry disease.

Alnylam Pharmaceuticals has achieved delivery of novel small interfering RNA (siRNA) conjugates to the central nervous system and intends to advance a pipeline of investigational RNAi therapeutics into clinical development.

The FDA has approved daratumumab (Darzalex) in combination with bortezomib (Velcade), melphalan, and prednisone (VMP) for the treatment of patients with newly diagnosed multiple myeloma who are ineligible for autologous stem cell transplant (ASCT).

Wahida Karmally, MS, RD, CDE, explains the challenges and importance of diet in patients with familial chylomicronemia syndrome (FCS), how much fat can be eaten (and which kind), and the dangers of pancreatitis when too much fat is consumed.

Results from the pivotal QuANTUM-R phase 3 study of single agent quizartinib significantly prolongs overall survival compared to chemotherapy in patients with relapsed/refractory AML with FLT3-ITD mutations.

In the recent review, it was shown that surgery can cure nearly all patients with the focal or localized form of congenital hyperinsulinism and prevent complications in patients with the diffuse from in which insulin-producing cells occur throughout the pancreas.

A human clinical trial grant totaling $750,000 was awarded this morning by the Muscular Dystrophy Association (MDA) to Massachusetts General Hospital, with the hope that it will accelerate biomarker research for amyotrophic lateral sclerosis (ALS).