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Rare diseases affect about 30 million Americans — roughly the same number as those with type 2 diabetes. Yet only 5 percent of the estimated 7,000 rare diseases known to science have cures or treatments approved by the U.S. Food and Drug Administration (FDA). Raising awareness of those illnesses and highlighting…

The world’s biggest gathering of rare disease researchers, patient groups, pharmaceutical executives, and government officials is planned for April 10–12 in a Washington, D.C., suburb. Some 1,200 people have already registered to attend the World Orphan Drug Congress (WODC) USA 2019, set to take place at the Gaylord National Harbor…

About 100 scientists, researchers, pharmaceutical executives, and others will converge on Austria’s capital city early next month for the 2nd International Congress on Advanced Treatments in Rare Diseases. The March 4-5 meeting, to take place at the Hilton Am Stadtpark Vienna, features 27 speakers on a variety of disorders…

Scores of events are afoot worldwide to mark Feb. 28, Rare Disease Day 2019. The activities aim to raise awareness about rare diseases and the millions of people — estimates run as high as 350 million — they are thought to impact. Across countries, patients, caregivers and advocates will paint faces, wear…

The U.S. Food and Drug Administration has granted rare pediatric disease designation to Regenxbio’s one-time gene therapy RGX-181 for the treatment of late-infantile neuronal ceroid lipofuscinosis type 2 (CLN2) disease, one of the most common forms of Batten disease. Regenxbio plans to submit an investigational new drug (IND) to the FDA…

G71.01 is, literally, the code for Duchenne muscular dystrophy.  Q93.51 stands for Angelman syndrome, and E75.4 covers neuronal ceroid lipofuscinosis (NCLs) and so includes Batten disease. All three designations are among some 70,000 diseases listed in the latest iteration of the International Classification of Disease (ICD). Known…

A mouse model representing CLN6 disease, a subtype of Batten disease, shows that females have different symptoms and a shorter lifespan than males, a study reports. This highlights the need for considering sex-specific differences in Batten disease progression when treating patients and developing therapeutic strategies. The study, “…

The U.S. Food and Drug Administration(FDA) is updating its 2015 draft guidelines for drug discovery in rare diseases, with new guidance on natural history— how disorders such as spinal muscle atrophy(SMA) run their course if untreated — the choice of “efficacy endpoints” in clinical trials, and how…

Mutated forms of CLN3 protein may be involved in the abnormal activation of signals in brain cells that, in excess, could promote cell death, a study has found, which suggests that inhibiting these signaling cascades could represent a new therapeutic strategy to prevent the progression of the juvenile form of…

A team of Italian researchers suggests that CLN3 disease, also known as juvenile Batten disease, should be included in the differential diagnosis of people with autophagic vacuolar myopathy (AVM), after describing the case of a man who received an accurate diagnosis only after undergoing a muscle biopsy.