Mathew Shanley

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.

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.

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.

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.

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.

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.”

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.

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.

Imara has announced that it has dosed the first patient in its Phase 2a clinical trial of IMR-687 in adult patients with sickle cell disease.

Catabasis Pharmaceuticals reported positive safety and efficacy results, displaying the preservation of muscle function and sustained disease-modifying effects in Duchenne muscular dystrophy with edasalonexent.

The U.S. FDA approved tezacaftor/ivacaftor and ivacaftor (Symdeko) for the treatment of the underlying cause of cystic fibrosis in people ages 12 years and older who have 2 copies of the F508del mutation.

Xeris announced this morning that the U.S. FDA has granted Orphan Drug designation to the ready-to-use, liquid-stable glucagon for the treatment of Hyperinsulinemic Hypoglycemia

Abeona Therapeutics, Inc. announced that the FDA has granted Orphan Drug Designation to its ABO-202 program for the treatment of infantile Batten disease.

Amicus announced that the U.S. FDA has accepted its New Drug Application submitting for filing under priority review for migalastat for the treatment of patients with Fabry disease with amenable mutations.

BioMarin presented interim data at the 14th Annual WORLDSymposium in San Diego from a Phase 1/2 trial for BMN 250 in MPS IIIB.

ArmaGen reported full 52-week results from a Phase 2 proof-of-concept study with AGT-181 in MPS I.

Sanofi Genzyme presented results from the Phase 1/2 trial, showing consistent safety data for the investigational avalglucosidase alfa in late-onset Pompe disease.

Amicus presented additional positive results from the company’s Phase 1/2 clinical study of ATB200/AT2221 in patients with Pompe disease in a late-breaker poster and a corresponding oral presentation.

Today at the WORLDSymposium in San Diego, Valerion Therapeutics presented initial results from the first cohort of its ongoing Phase 1/2 clinical study of VAL-1221 in patients with late-onset Pompe disease.

At the 14th Annual WORLDSymposium, interim data from two open-label studies were presented, exhibiting a 3-year survival estimate of 68% in infants with rapidly progressing LAL-D treated with sebelipase alfa.

The infographic on this page will take you from the inception of Rare Disease Day to present day.

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.