News

Two previously-unknown mutations in the CLN5 gene were reported to cause CLN5 disease, a form of late infantile Batten disease, in a new study. The study also represents the second-ever publication describing CLN5 disease in people in Pakistan, hinting at a more worldwide distribution of the condition than…

Common, non-invasive imaging techniques and a walking test used to assess patients with Batten disease in the clinic helped scientists identify a new set of biomarkers in a mouse model that can track disease progression over time, a study reports.  These findings…

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…

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…

A reduction in the ability of the CLN6 protein to prevent other proteins from clumping together and forming aggregates can account at least partially for the development of some forms of CLN6 disease. The study with that finding, “Implications of graded reductions in CLN6’s anti-aggregate activity forthe development…

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…

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…

The U.S. Food and Drug Administration (FDA) has granted fast track designation to Amicus Therapeutics‘ AT-GTX-502, an investigational gene therapy for Batten disease caused by mutations in the CLN3 gene, the company announced in a press release. This designation is given to investigational therapies that…

The Rare Diseases Clinical Research Network (RDCRN) has opened an online survey to better understand how the COVID-19 outbreak is affecting people with rare diseases, their families, and caregivers. Survey questions cover a patient’s physical and mental health, supply of treatments, and access to healthcare, among other…