An abundance of events are afoot around the world to mark Rare Disease Day 2020 on Feb. 29. 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…
News
Two new mutations in the DNA sequences of children with late infantile Batten disease, a type of neuronal ceroid lipofuscinoses (NCL), have been found by researchers in Saudi Arabia. The study with that finding, “Neuronal ceroid lipofuscinoses type 8: Expanding genotype/ phenotype diversity-first report from Saudi…
The U.S. Food and Drug Administration (FDA), a vast government bureaucracy, employs about 17,500 people and had a budget of $5.7 billion in 2019. Yet even with its enormous resources, the FDA these days relies more and more on patients to…
The gleaming new Dutch headquarters of the European Medicines Agency (EMA), fronting Domenico Scarlattilaan in Amsterdam’s suburban Zuidas business district, finally opened for business last month — just over two years after the European Union decided to relocate the EMA to the Netherlands in the wake of Brexit.
A previously unidentified variant of a gene associated with adult-onset Batten disease (ANCL) was found in an affected family after initial genetic tests failed, highlighting the difficulties in diagnosing this condition despite advances in DNA sequencing technology, a new study shows. The…
The stability of lysosomal proteins when tested in a laboratory setting is not equivalent to that observed in live cells, a study has found. This information should be considered when designing new protein versions to improve the effectiveness of enzyme replacement therapy for Batten disease. Results of…
News
Juvenile Batten Disease Should Be Considered in Children With Rapid Vision Loss, Study Suggests
Children with rapid and progressive vision loss — regardless of cognitive or behavioral problems — should be tested for CLN3 disease, the juvenile form of Batten disease, a study suggests. The researchers pointed out that blood film microscopy (where a blood drop is analyzed under microscope) is a fast, accessible,…
Neurogene, which is developing therapies to treat people with Batten disease, has joined with other companies in supporting and expanding Behind the Seizure, a collaborative effort to provide free genetic testing to children in the U.S. and Canada with…
An investigational gene therapy for late infantile (CLN2) Batten disease showed a good safety profile in a small clinical trial. The gene therapy also slowed the progression of the disease, though not to the extent of current standard-of-care treatment. Researchers are now working on more effective ways to deliver…
Biopharmaceutical company Theranexus has reached an exclusive $20 million global agreement with Beyond Batten Disease Foundation (BBDF) for an upcoming clinical trial and potential commercialization of juvenile Batten disease treatment candidate BBDF-101. The pact follows a June 27 agreement in principle, in which Theranexus was granted six…
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