RDR Alert®

Survey results from the IPA/Erasmus MC Pompe survey investigated whether ERT can reduce Pompe disease patients’ risk of needing either a wheelchair, respirator, or both.

Results from an online, self-administered survey showed a mostly consistent and unified response in pulmonologist treatment responses.

An analysis of over 1,200 patients from pivotal studies finds that Esbriet helped blunt seasonal peaks in respiratory hospitalizations among patients with idiopathic pulmonary fibrosis.

Supported by positive data from an ongoing Phase 2/3 study, bluebird bio’s Lenti-D has been granted Breakthrough Therapy designation by the US FDA for the treatment of patients with cerebral adrenoleukodystrophy.

Dr Campbell wins NORD Lifetime Achievement Award and discusses key points in rare disease.

New data presented yesterday at the American Thoracic Society’s 2018 annual conference suggest that treatment with nintedanib (Ofev) is associated with a reduced risk of death in patients with idiopathic pulmonary fibrosis.

At NORD’s 2018 Rare Impact Awards, Rare Disease Report® sat down with Estelle Benson, founder of GBS|CIDP Foundation International, to discuss what the organization is doing to fight GBS.

Yesterday, UroGen Pharma Ltd released positive data from its interim analysis of the ongoing pivotal Phase 3 OLYMPUS clinical trial of UGN-101 (MitoGel) for the non-surgical treatment of low-grade upper tract urothelial cancer (UTUC).

Results from a recent head-to-head pharmacokinetic study show Rebinyn is more effective than rFIXFc in adults with hemophilia B.

The U.S. FDA has completed their Priority Review and granted full approval to avatrombopag (Doptelet) for the treatment of thrombocytopenia in adult patients with chronic liver disease who are scheduled to undergo a procedure.

Results from Roche's phase III HAVEN 3 and phase III HAVEN 4 studies, which assessed the administration of Hemlibra (emicizumab) in people with hemophilia A without factor VIII inhibitors, show efficacy.

NORD's Voice of the Community - May 2018

New data demonstrates clinical benefit in hemophilia B patients with pre-existing anti-AAV5 neutralizing antibodies.

Burosumab (Crysvita) was approved by the US FDA to treat adults and children ages 1 year and older with x-linked hypophosphatemia (XLH), a rare genetic variation of rickets. Phase 3 study results help explain why.

Fibrocell Science, Inc released interim results and progress regarding its phase 1/2 clinical trial of FCX-007 for the treatment of recessive dystrophic epidermolysis bullosa (RDEB).

Harmony Biosciences, LLC, announced that the FDA has granted Breakthrough Therapy and Fast Track designations to its product, pitolisant, for the treatment of excessive daytime sleepiness and cataplexy in patients with narcolepsy.

The first patient has been enrolled in PEDFIC-1, a phase 3 clinical trial of A4250, an ileal bile acid transporter (IBAT) inhibitor being studied for the treatment of patients with progressive familial intrahepatic cholestasis (PFIC).

Vincent Miller, MD, chief medical officer of Foundation Medicine, discusses FoundationOne CDx, an FDA-approved diagnostic that is clinically validated for solid tumors.

The phase 1/2 trial for ABO-102 (AAV-SGSH), clinical gene therapy for the treatment of Sanfilippo syndrome type A (MPS III A) shows efficacy in trial update.

Patrick Dunegan, Rare Impact Awardee, explains how GSSSI, a 501c3 nonprofit organization, is working to fight gastroparesis, a gastric motility disorder known to be very debilitating for those who suffer from it.

The FDA has granted Rare Pediatric Disease Designation to Myonexus Therapeutics for its MYO-101, which is an AAV-based gene therapy for the treatment of limb girdle muscular dystrophy (LGMD) type 2E.

New data shows that an increase in the burden of AF is independently associated with a higher risk of ischemic stroke and arterial thromboembolism in patients who have not received anticoagulant medication.

The FDA granted rare pediatric disease designation to Castle Creek Pharmaceuticals (CCP) for diacerein 1% ointment (CCP-020) for the treatment of epidermolysis bullosa simplex (EBS).

The US Food and Drug Administration (FDA) has accepted the Bioverativ's Investigational New Drug (IND) application for BIVV003, a gene-edited cell therapy candidate for the treatment of people with sickle cell disease.

Agilis Biotherapeutics, Inc. has announced that the company's gene therapy for AADC deficiency results in de novo dopamine production and supports durable Improvement in major motor milestones.

New data being presented at ASGCT detail patients (1.67 to 8.42 years of age) enrolled in a study evaluating the investigational gene therapy treatment, AGIL-AADC.

Data is released from a pilot study of X4P-001-IO in combination with nivolumab in patients with clear cell renal cell carcinoma (ccRCC) who are non-responsive to the anti-PD-1 checkpoint inhibitor nivolumab alone.

FDA grants orphan drug designation to Sarconeos for Duchenne muscular dystrophy (DMD).

Positive results yield from a phase 2 tudy of bertilimumab in patients with moderate-to-extensive bullous pemphigoid (BP).

FDA approves Retacrit (epoetin alfa-epbx) as a biosimilar to Epogen/Procrit (epoetin alfa) for the treatment of anemia caused by chronic kidney disease, chemotherapy, or the use of zidovudine in patients with HIV infection.