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Diagnosed with sickle cell disease as a 6-month-old, Tristan Lee has faced a lot of challenges over his 37 years of life. But from a young age, he also learned how to turn those trials into triumphs. At age 9, a stroke due to his disease left him paralyzed…
CLN3, the protein missing in people with juvenile Batten disease, is needed for a cellular process normally taking place in the retina that works to maintain the specialized cells needed for sight, a study reports. According to its researchers, these findings aid in understanding the cellular and molecular mechanisms…
Rare Disease Day at NIH, organized by the National Institutes of Health (NIH) and taking place on March 1, will feature panel discussions, patient stories, research updates, TED-style talks, and a presentation by a Nobel laureate recently recognized for her work on a gene editing tool. The free, virtual…
People with rare disorders have a worse healthcare experience than those affected by chronic diseases, according to the results of an international survey conducted by Eurordis-Rare Diseases Europe. Indeed, rare disease patients overall give their healthcare experience a medium-low rating, of 2.5 on a scale of 1 to 5,…
AT-GTX-502, Amicus Therapeutics’ investigational gene therapy for juvenile Batten disease, has been well-tolerated and is showing a potential to stabilize early signs of the disease in children and infants. These are the initial findings of a first Phase 1/2 trial (NCT03770572) investigating the safety and efficacy of…
A single injection into the brain of an investigational gene therapy now in clinical trials partly prevented retinal degeneration and vision loss in a mouse model of CLN6 Batten disease, a study shows. These findings mark the first report of a brain-delivered gene therapy reaching both the brain and…
Scores of virtual events are afoot around the world to mark Rare Disease Day 2021 on Feb. 28. The activities are focused on heightening awareness about rare diseases and the hundreds of millions of individuals they are thought to affect. Patients, caregivers, and advocates worldwide will sport denim ribbons…
A urine analysis, called a urine proteome, found higher expression of specific proteins in people with different subtypes of Batten disease, a study reports. These proteins may be useful as easily accessible biomarkers of disease progression and response to treatment, its researchers wrote. They might also…
While progress was made last year on newborn screening and other policy issues critical to rare disease patients, a “State Report Card” argues that many concerns — notably out-of-pocket costs for prescription medicines and access to affordable comprehensive care — still need attention. Those were the findings of the…
New guidelines from the U.S. Food and Drug Administration (FDA) may make it easier to develop therapies to treat extremely rare diseases, such as Batten disease. “The release of this guidance from the FDA is a first step and a very welcome one. It speaks to the promise…
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