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A collaboration between startup company Healx and nonprofit FRAXA Research Foundation is moving forward with preclinical testing after identifying a list of existing therapies that hold the most promise for treating fragile X syndrome. In late 2016, Healx, based at the University of Cambridge in England, received a…

The U.S. Food and Drug Administration (FDA) recently granted fast track designation to Ovid Therapeutics’ Fragile X syndrome (FXS) treatment candidate OV101 (gaboxadol). The designation accelerates the development and regulatory review of investigational medications for the treatment of serious conditions and that fill an unmet medical need.

The U.S. Food and Drug Administration (FDA) recently accepted the investigational new drug (IND) application for BPN14770, a small molecule therapeutic agent developed by Tetra Discovery Partners for the treatment of Fragile X syndrome and other autism spectrum disorders. Tetra Discovery now plans to launch a Phase 2 clinical…

Zynerba Pharmaceuticals will start a clinical trial of its cannabis-based Fragile X syndrome treatment  ZYN002 in mid-2018. The U.S. Food and Drug Administration gave the company a green light for the trial at a recent meeting. Zynerba expects the results to support the filing of a New Drug Application for…

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,…

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…

The gene-editing technology CRISPR/Cas9 was able to restore the expression of the FMR1 gene in nerve cells, the underlying cause of fragile X syndrome. The study “Rescue of Fragile X syndrome neurons by DNA methylation editing of…

A certain type of DNA mutation is related to impaired motor skills in children with autism spectrum disorders (ASD), including fragile X. The research behind that finding, “Damaging de novo mutations diminish motor skills in children on the autism spectrum,” was published in the journal Proceedings of the…

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…