RDR Alert®

On Rare Disease Day, a tribute committee will rename a plaza in Cambridge, Massachusetts in honor honor of Henri A. Termeer, late biotechnology pioneer and former Genzyme Chief Executive Officer.

John Crowley, the President and CEO of Amicus Therapeutics, sat down with Rare Disease Report at the 14th Annual WORLDSymposium in San Diego to discuss the President's mention of rare diseases.

The Committee for Medicinal Products for Human Use of the EMA recommended that both Mylotarg (gemtuzumab ozogamicin) and Bosulif (bosutinib) be reviewed separately by the European Commission.

Sobi announced that the EMA's Committee for Medicinal Products for Human Use has adopted a positive opinion for anakinra (Kineret) for the treatment of Still’s disease.

Kazia Therapeutics has received orphan drug designation by the U.S. FDA for GDC-0084, intended for the treatment of glioblastoma multiforme.

At the Cost-Sharing Roundtable on Friday, K. Robin Yabroff, Ph.D. presented data explaining the economic struggles that can be had by those who need medical attention.

After WORLDSymposium, Rare Disease Report spoke with Loren D.M. Pena, M.D., Ph.D., who presented new safety data for neoGAA in late-onset Pompe.

Vertex has initiated a Phase 3 study of VX-659, Tezacaftor and Ivacaftor for people with cystic fibrosis who have one F508del mutation and one minimal function mutation.

In the early stages of the FCX-007 program, no children were included. Fibrocell has been testing the potential therapy in adults until enough successful data were collected to justify treating the pediatric population.

ContraVir Pharmaceuticals, Inc. announced that the U.S. FDA has granted orphan drug designation to TXL, an investigational drug candidate for the potential treatment of chronic hepatitis B infection in a pediatric patient population.

The FDA has accepted a supplemental Biologics License Application (sBLA) for Shire’s Cinryze, a therapy that treats recurring swelling attacks in hereditary angioedema (HAE), to expand the already approved indication to include children 6 years and older.

Soleno Therapeutics has completed its End-of-Phase II meeting with the FDA regarding the biopharmaceutical company’s drug, Diazoxide Choline Controlled-Release (DCCR), a therapy used to treat patients with Prader-Willi syndrome (PWS).

GenSight Biologics has published successful results in the Journal of the American Academy of Ophthalmology from their Phase I/II clinical trial and long-term follow-up of GS010, a therapy used to treat patients with Leber Hereditary Optic Neuropathy (LHON).

In a story written by Jackie MacMullan and published on ESPN.com, it was revealed the Hall of Fame basketball player Nate “Tiny” Archibald has been living with amyloidosis.

Shire plc, Microsoft and EURORDIS announced a strategic alliance with the intentions of accelerating the time it takes for pediatric rare disease patients to receive the correct diagnosis.

The American Lung Association will host two events this spring: the 2018 Greater Philadelphia LUNG FORCE Expo and a webinar for sarcoidosis patients focusing on improving health outcomes and support programs.

NORD's Voice of the Community - February 2018

Takeda released new real-world data evaluating the comparative effectiveness of Entyvio (vedolizumab) and TNFα-antagonist in patients with moderately to severely active ulcerative colitis or Crohn’s disease.

Nativis, Inc. announced this morning that its Voyager Pediatric system has been granted a Humanitarian Use Designation from the U.S. FDA.

Arrowhead Pharmaceuticals Inc. announced that the company’s second-generation investigational medicine ARO-AAT was granted orphan drug designation by the FDA.

Celgene Corporation announced that data from the Phase 3 RELIEF clinical trial of Otezla (apremilast) in patients with active Behçet’s disease with oral ulcers were presented.

Multiple Phase 3 studies that evaluated the treatment of Dysport in sustained spasticity patients will be presented at the annual meeting of the Association of Academic Physiatrists.

Akcea announced that the Division of Metabolism and Endocrinology Products of the U.S. FDA will hold an advisory committee meeting to review data supporting the NDA for volanesorsen.

AstraZeneca and Merck announced that selumetinib, its MEK 1/2 inhibitor for the treatment of NF1, was granted orphan drug designation by the U.S. FDA.

Patricia Dickson, M.D., discusses similarities between variations of MPS and the both the benefits and challenges of being a researcher in the rare disease community.

Late last night, U.S. FDA Commissioner Scott Gottlieb released a statement regarding the Administration’s request for new FDA funding to “promote innovation and broaden patient access through competition.”

A researcher at the Feinstein Institute for Medical Research has been awarded two grants for clinical trials on existing FDA-approved drugs that can be indicated to treat hereditary hemorrhagic telangiectasia.

Genentech announced that its Supplemental Biologics License Application was accepted, and the FDA granted Priority Review for the use of rituximab for the treatment of pemphigus vulgaris.

On February 27, Marquette University’s College of Health Sciences will host a discussion led by Harmony 4 Hope and other rare disease advocates in honor of rare disease day.

Data published in The Orphanet Journal of Rare Diseases confirmed that currently-available enzyme replacement therapies are unable to reverse or stabilize the progression of Pompe disease.