Get regular updates to your inbox.
Screening newborns for genetic diseases with treatments that can prevent crippling or deadly progression, especially for rare disorders, has a ways to go in the United States. No state today tests for all 35 disorders recommended under a federal screening panel, and even in those that come close, rare…
Amicus Therapeutics entered a collaboration with Paragon Gene Therapy, a unit of Catalent Biologics, for the production and development of potential gene therapies to tackle lysosomal storage disorders (LSDs), including Batten disease. They will concentrate on advancing gene therapy programs that are at a preclinical…
A new international consortium based in Paris, and funded largely by the 28-member European Union, intends to speed the diagnosis of rare diseases, while also accelerating the development of treatments for the 95% of such illnesses that currently don’t have one. The European Joint Programme on Rare Diseases (EJP…
Brain-directed gene therapy is a feasible therapeutic strategy to prevent neurodegeneration associated with CLN6 disease, a mouse study says. The findings of the study, “Neonatal brain-directed gene therapy rescues a mouse model of neurodegenerative CLN6 Batten disease,” were published in bioRxiv. Neuronal ceroid lipofuscinoses (NCLs), also…
It wasn’t until Gordana Loleska’s son David was 14 years old that doctors in their native North Macedonia diagnosed his kidney, vision, and hearing problems as Alport syndrome. Although she had known for years that something was wrong, the news that David would battle a lifelong rare disease devastated…
In most patients with juvenile Batten disease, motor impairments are already apparent at the time of diagnosis and are not related to vision loss, a study finds. The findings of the study, “Motor function impairment is an early sign of CLN3 disease,” were published in Neurology.
A violinist with vasculitis, two Texas politicians and a pharmaceutical company whose marijuana-derived therapy helps kids with Dravet syndrome were among winners of the 2019 Rare Impact Awards. Officials of the National Organization for Rare Disorders (NORD) presented the awards during a June 22 dinner attended by…
Abeona Therapeutics’ one-time gene therapy candidate ABO-202 has been granted fast track designation by the U.S. Food and Drug Administration (FDA) for treating children with infantile Batten disease, also known as CLN1 disease. A fast track designation by the FDA is intended to accelerate the review of new compounds that potentially could fill…
Europe’s umbrella organization for 800 rare disease associations has developed a sweeping initiative to help the continent’s 30 million rare disease patients and their caregivers learn about their conditions, find assistance and receive treatment. Eurordis-Rare Diseases Europe hopes to improve the current piecemeal treatment and support program with a holistic,…
People with rare diseases know that the right government policies can make a big difference in the quality of their own lives, and those of their caregivers. But most lawmakers aren’t experts in even one well-known disease — let alone the world’s estimated 7,000 rare disorders. So how does the…
Get regular updates to your inbox.