More therapies are now available for the 30 million or so people with rare diseases in the U.S. than ever before, and millions of dollars are being invested in clinical studies that will test new ways of evaluating — and advancing — potential treatments, including the use of natural history…
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Brineura (cerliponase alfa), the first therapy approved to treat children with Batten disease, received the 2017 “Best of What’s New” award in the health category by Popular Science, a science and technology magazine. Brineura is BioMarin’s therapeutic product developed to treat the underlying cause of tripeptidyl…
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#NORDsummit – Despite Criticism, Orphan Drug Act Is Working to Advance Needed Treatments, FDA Says
As Congress begins debate this week to overhaul the U.S. tax code, lawmakers should leave the Orphan Drug Act (ODA) — and the tax incentives it offers pharmaceutical companies to develop therapies for rare diseases — off the table. That’s the message being pushed by the National Organization for…
Gene therapy is able to reduce toxic protein aggregates in a zebrafish model of one form of adult-onset Batten disease, a new study from China shows. The study, “Gene Therapy of Adult Neuronal Ceroid Lipofuscinoses with CRISPR/Cas9 in Zebrafish,” appeared in the journal Human Gene Therapy. The study’s…
A comprehensive and unique collection of juvenile Batten disease induced pluripotent stem cells has become available. Juvenile Batten disease, also known as neuronal ceroid lipofuscinoses, is the result of a mutation in the CLN3 gene. The stem cell announcement was made by the Beyond Batten Disease Foundation (BBDF) and…
Two parents in Springville, Utah, lost three children in three consecutive days this summer to Batten disease, also known as neuronal ceroid lipofuscinoses. According to The Washington Post, Christopher Chappell, 20, Elizabeth, 19, and James, 15, passed away on a Friday, Saturday, and Sunday, respectively. Their joint obituary…
Yeast models of Batten disease and other lysosomal storage disorders could speed up the discovery of treatments by overcoming the restraints of animal models of the disease, a group of researchers argues in the journal Microbial Cell. Their article describes how a research approach that starts in yeast and ends…
The BATCure family survey is now live. The project aims to help develop new therapies for Batten disease by identifying target genes and small-molecule treatments for three types of Batten: juvenile CLN3 (the most common), CLN6 and CLN7. It will also study if existing drugs can be repurposed for Batten.
Early photosensitivity may be a hallmark of ceroid lipofuscinosis type 2 (CLN2) disease, according to the results of a small study. The study “Photosensitivity is an early marker of neuronal ceroid lipofuscinosis type 2 disease” was published in the journal Epilepsia. The neuronal ceroid lipofuscinoses (NCLs), or Batten disease, are a heterogeneous group of lysosomal storage disorders that…
Two 5-year-olds participating in a trial evaluating the first treatment for Batten disease were reunited at Le Bonheur Children’s Hospital in Memphis after Hurricane Harvey almost suspended the treatment for one of them. Elle Gieselmann and Micah McCorkle are among the few Americans receiving the enzyme replacement therapy. The…
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