Forest Ray PhD,  —

A new mutation found in the CTSD gene does not associate with the rare CLN10 form of Batten disease, despite occurring in a girl in China with CLN10-like symptoms, according to the results of a recent case report. Nonetheless, the discovery of this new mutation “has significance” and will…

Juvenile Batten disease is difficult to diagnose promptly and accurately, as demonstrated by the case of twin girls with different symptoms of the same disorder. The case suggests that a referral to a specialist should be made when a patient’s clinical picture doesn’t line up with their history, or…

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…

Regenxbio plans to provide updates on its RGX-181 and RGX-381 gene therapy candidates for late-infantile neuronal ceroid lipofuscinosis type 2 (CLN2) disease, one of the most common forms of Batten disease, in the second half of this year. The company is currently reviewing information requests from…

The two COVID-19 vaccines that recently received emergency approval from the U.S. and other worldwide regulatory agencies are expected to pose little risk to the rare disease community, including to patients with compromised immune systems or those participating in gene therapy studies. That was the message of a recent…