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Animal models predicted dosing of the enzyme replacement therapy Brineura (cerliponase alfa) for patients with late infantile Batten disease, also called CLN2 disease, a study showed. Scientists said this approach also may be applied to predict cross-species dosing for other similar medicines. “Overall, the approach described here provides…
A new eye exam proved useful for testing vision in children with CLN2 disease — also known as late-infantile Batten disease — who took part in a pilot study, its developer, Objective Acuity (OAL), announced. Called threshold visual acuity test, the exam appears to be promising for…
AllianceRx Walgreens Prime, a specialty and home delivery pharmacy, is partnering with TailorMed, a healthcare technology company, to help lower out-of-pocket prescription costs for specialty pharmacy patients. Medications attained through specialty pharmacies are those used to treat rare and chronic conditions in the U.S., and are often extremely costly. For…
Nominations are now open for the worldwide 2022 Black Pearl Awards from Eurordis-Rare Diseases Europe. The 12 award categories recognize individual advocates, policy makers, researchers, organizations, and companies who work to make a difference for the global rare disease community. The deadline for nominations is Sept. 10…
Care Beyond Diagnosis is a small nonprofit run by a team of three, but it is taking on a large task for the rarest of rare diseases by focusing on clinical guidelines that make it easier for doctors to treat patients with these disorders. In April, it released…
At its first virtual investor event, biotech company Centogene set a bold mission: to cure 100 rare diseases within the next decade. A leader in the field of genetic diagnostics, Centogene used the June 22 event to present its strategic priorities, outlining its plans to speed the discovery…
The European Medicines Agency (EMA) designated Neurogene’s gene therapy candidate for CLN5, a form of late-infantile Batten disease, an orphan drug as a potential treatment of the disorder. “This regulatory designation is an important milestone toward addressing the urgent, unmet need of families and patients living with CLN5, and…
A gene therapy designed to deliver a working version of the CLN8 gene — the one mutated in people with CLN8, a form of late-infantile Batten disease — prolonged the survival, reduced disease-associated brain features, and partially corrected motor problems in a mouse model. The findings, likely representing one of…
To help patient advocacy leaders and their partners better understand how global health statistics codes — known as ICD codes — are assigned, updated, and revised in the U.S. health information system, the EveryLife Foundation for Rare Diseases is presenting a first-of-its-kind resource guide. The foundation created the…
Those who wish to gain practical tools for living optimally with rare diseases are encouraged to attend the annual Living Rare Living Stronger Patient and Family Forum, hosted by the National Organization for Rare Disorders (NORD) and set this year for June 26-27. The conference brings together patients,…
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