News

Oral treatment with trofinetide was well tolerated and, at a higher dose, eased social avoidance, anxiety, hyperactivity and other symptoms of fragile X syndrome in adolescent and adult males, results of a Phase 2 trial show. The study, “A Double-Blind, Randomized, Placebo-Controlled Clinical Study of…

The Black Women’s Health Imperative (BWHI) recently created a Rare Disease Diversity Coalition focused on reducing racial disparities in the rare disease community. Getting a timely and accurate diagnosis for a disease that few people — sometimes even physicians — have heard of is challenging on its own merit.

An Australian project is recruiting couples planning to have children or experiencing early pregnancy for a nationwide genetic study to screen for about 750 genetic conditions, including fragile X syndrome. Mackenzie’s Mission is an initiative named after the daughter of Rachael and Jonathan Casella, Mackenzie, who was born with…

Providing a fragment of the FMRP protein, which is missing in people with fragile X syndrome, eased hyperactivity and restored nerve cell communication in the brain, a study in a mouse model found. The study, “FMRP(1–297)-tat restores ion channel and synaptic function…

Shionogi has acquired Tetra Therapeutics, the developer of a treatment candidate known as BPN14770 for fragile X syndrome and Alzheimer’s disease. With the agreement, Shionogi obtains global rights to Tetra’s entire pipeline. It will continue developing BPN14770 — an investigational therapy for…

While the ongoing COVID-19 pandemic won’t have much of an impact on cash available for new biotech startups, it has begun to cause delays in the development of gene therapies to treat a variety of rare diseases. That’s the consensus of industry experts who spoke in a May 26 webinar…

Blocking an enzyme called GSK3 alpha seems to ease many symptoms of fragile X syndrome — including abnormal protein production, seizures induced by loud tones, learning and memory deficits, and excess nerve cell activity —without the known problems of similar approaches, research in mice suggests. The study,…

European authorities must step up efforts to screen babies for a multitude of genetic disorders, a panel of experts suggested during a May 14-15 online medical conference. The session was part of the 10th European Conference on Rare Diseases & Orphan Products (ECRD2020) — which was to have occurred…

Dara Riva always had a rule that her 10-year-old son could play video games only once a week. But then the COVID-19 pandemic struck, and her perspective changed. Riva’s son, Maximilian, has cystic fibrosis (CF), making him particularly susceptible to COVID-19 and the complications that can arise from it.

Eurordis, a Paris-based coalition of national rare disease associations across Europe, hosted its first all-virtual conference, bringing some 1,500 delegates from 57 countries together online during the COVID-19 pandemic. The 10th European Conference on Rare Diseases & Orphan Products (ECRD2020) — which was set for May 14–15 in…