News

Genetic sequencing and the speed with which it can help diagnose a child’s disease — in addition to revealing the genes that cause at least half of the 7,000 rare diseases currently known — was the focus of a discussion by three top New York geneticists. The Feb. 28 conference,…

iBio has selected a lead scleroderma treatment candidate — a molecule it calls the E4-Fc fusion protein. The company plans to continue developing it, with a goal of moving it in clinical trials in people. It also hopes to treat fibrotic diseases besides scleroderma with the molecule, which is…

When it comes to rare diseases, one that definitely makes the list is spinal muscular atrophy with respiratory distress — SMARD,  for short. Hunter Pageau, a 12-year-old boy from North Haven, Connecticut, is one of only 80 people in the world known to have SMARD, a motor neuron disease…

Using immunosuppressive therapy to treat interstitial lung disease (ILD) associated with scleroderma (SSc) should be done carefully and with close monitoring, a study reports. The research, published in the journal Arthritis Research & Therapy, is titled “Systemic sclerosis associated interstitial lung disease – individualized immunosuppressive therapy and course of lung…

In his 10 months on the job, Commissioner Scott Gottlieb of the U.S. Food and Drug Administration is earning praise for his efforts to make clinical trials for new therapies more flexible and responsive to the needs of rare disease patients. From cystic fibrosis to epidermolysis bullosa, the FDA…

At a time of unprecedented polarization in Congress, two U.S. lawmakers — one Republican, one Democrat — are stressing the urgency of working across the aisle to help the estimated 30 million Americans with rare diseases. Rep. Leonard Lance (R-New Jersey) and Sen. Amy Klobuchar (D-Minnesota) spoke to more…

The U.S. Food and Drug Administration (FDA) has agreed to allow Fibrocell Science to begin clinical trials testing its lead candidate FCX-013 for the treatment of moderate to severe localized scleroderma. This news comes on the heels of an investigational new drug (IND) application that was filed…

It takes more than three years for half of Britons with rheumatic diseases like scleroderma, lupus and vasculitis to obtain a correct diagnosis, according to a Rare Autoimmune Rheumatic Diseases Alliance report. This means a major delay in obtaining the treatment they need, according to the report, titled “Reduce, Improve, Empower.” It…

Retrophin and the U.S. subsidiary of Britain’s Horizon Pharma will each donate $3 million over a six-year period to the Rare Disease Institute (RDI) at Children’s National Health System in Washington, D.C., helping it to strengthen care available and expand as a “center of excellence” for rare…

Implanting some of scleroderma patients’ fat cells in their fingers significantly improved their hand function and overall disability, a clinical trial showed. The STAR trial (NCT02396238) dealt with Cytori Therapeutics’ Habeo cell therapy. It involved placing fat — or adipose — cells under the skin of each finger. Cytori presented…