FDA Revising ‘Draft Guidance’ on Developing Treatments for Rare Diseases

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…

Rare Disease Groups Welcome FDA’s Embrace of ‘Real World’ Data in Clinical Trials

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…

Women Also May Develop a Severe Form of X-Linked Alport Syndrome, Study Finds

Women with X-linked Alport syndrome may develop severe disease progression. But the type of mutation a patient carries does not predict the disease’s severity, and physicians should pay careful attention while monitoring and treating women with X-linked Alport syndrome, according to a study from the Kobe University Graduate School of…