News

The National Organization for Rare Disorders (NORD)’s RareLaunch training program will host two days of free virtual workshops in December, with the aim of empowering leaders to start non-profit organizations and research programs to help people with rare diseases.  “The RareLaunch program is…

Amicus Therapeutics‘ investigational gene therapy AT-GTX-501 stabilized motor and language function in children with variant late infantile neuronal ceroid lipofuscinosis 6 disease — also known as CLN6 Batten disease — two years…

A photo of a bespectacled young boy, his red baseball cap slightly askew as he  enjoys time outside, will be featured on the front cover of an upcoming calendar in the “Same But Different” contest to raise awareness about rare disorders. “A Lovely Day Out in Kew Gardens,”…

The Scottish Medicines Consortium (SMC) has recommended that Brineura (cerliponase alfa) — the first and only approved treatment for late infantile Batten disease, also known as CLN2 disease — be made available through the National Health Service (NHS) Scotland, the Batten Disease…

A majority of rare disease patients using telehealth during the COVID-19 pandemic thought the experience positive, and many would like the option of continuing its use in future appointments, a series of surveys found. The surveys were conducted by the National Organization for Rare Disorders (NORD) and involved more than 800…

Cannabinoids were used to successfully treat seizures in a patient with Batten disease for whom conventional therapies alone failed, according to a case report, suggesting that cannabinoids should be investigated further as a possible seizure treatment. The report, “Successful treatment of cannabinoid administration against refractory…

Same But Different, a nonprofit U.K. group that uses art for social change, is inviting people to choose their favorite photographs in a calendar contest to heighten awareness of rare diseases, including amyotrophic lateral sclerosis (ALS). The organization’s panel of judges has pared the number of contest submissions…

A patient with both Batten disease and Moyamoya disease — a condition where blood vessels in the skull become obstructed or narrowed, restricting blood flow to the brain — has been described in the first published case of these two conditions occurring in one person. The case report,…

The European Medicines Agency (EMA) has given priority medicines (PRIME) status to AT-GTX-501, Amicus Therapeutics‘ investigational gene therapy for CLN6 Batten disease, otherwise known as variant late infantile neuronal ceroid lipofuscinosis 6 (vLINCL6) disease. PRIME designation helps speed the development and regulatory review of promising medicines…

An examination of the spinal cords of mice that lack the PPT1 protein, the underlying cause of infantile Batten disease, revealed the loss of specific neurons, evidence of inflammation, and walking abnormalities that started early during spinal cord development, a study reports. …