News

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…

Kristen and Gordon Gray weren’t willing to take no for an answer. When their 5-year-old daughter, Charlotte, was diagnosed with a rare form of Batten disease in 2015, the doctors told them there was nothing they could do. There was no treatment available for Batten disease,…

Taylor King was nearly 8 years old — a runner, who loved pink and wearing dresses — when she was diagnosed with infantile Batten disease in July 2006. By that October, her family had started fundraising for a cure. “At the beginning, there was a huge…

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…

In recognition of Rare Disease Day 2018, Bionews Services — which publishes this website — will attend and report on three relevant conferences in the U.S. dealing with policies and programs of importance to patients and their families. The three are among 50 events in 32 states…

The New York Stem Cell Foundation and the Beyond Batten Disease Foundation are making juvenile Batten disease stem cells available to researchers. At the moment the collection consists of stem cells from 24 people who have the disease or are carrying the CLN3 gene mutation associated with it. Some of…

A family of enzymes called metallothioneins potentially could be new therapeutic agents in the treatment of lysosomal storage disorders (LSDs), including Batten disease, a mouse model shows. The study, “Metallothioneins are Neuroprotective Agents in Lysosomal Storage Disorders,” was published in the journal Annals of Neurology. LSDs, which…

A rock-painting contest in Las Vegas. A fashion show in New York. A 7,000-meter race around the Washington Monument that’ll coincide with a similar #Racefor7 event in Bengaluru and Mumbai, India. From Athens to Atlanta, from San Diego to Sydney, people across the globe will mark World Rare Disease…

Brineura (cerliponase alfa), marketed by BioMarin Pharmaceuticals, was given the WORLDSymposium 2018 New Treatment Award in recognition of its achievements in treating lysosomal diseases, including Batten disease. Brineura slows the decline of children’s ability to crawl or walk, and is the only therapy approved by the U.S. Food and Drug…

A preliminary recommendation against British National Health Service insurance coverage of the $702,000-a-year therapy Brineura (cerliponase alfa) to treat a specific type of Batten disease is “cruel and inaccurately based,” the U.K. nonprofit Batten Disease Family Association contends. The expensive drug, manufactured by San Francisco-based BioMarin, is aimed…