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A little-known government entity within the National Institutes of Health (NIH) is helping to lead U.S. efforts to speed up the development of therapies for some 7,000 rare diseases. The Office of Rare Diseases Research (ORDR), headquartered in Bethesda, Maryland, was established in 1993 within the NIH Office of the…

Gene therapy directly targeting a specific type of neuron in the retina of the eye was able to prevent vision loss in late infantile Batten disease caused by rare CLN6 genetic mutations in mouse models of the disease. The study, “…

Loss of a protein called CLN7 causes levels of multiple soluble lysosomal proteins to drop, contributing to the development and progression of Batten disease, a mouse model shows. The study, “Loss of CLN7 results in depletion of soluble lysosomal proteins and impaired mTOR reactivation,” was published in the journal…

A 24-month campaign to raise $6 million toward curing juvenile Batten disease got a $70,000 pop in February, the Beyond Batten Disease Foundation announced in its March newsletter. The Be Project fund-raising effort, which started in 2016, is about $3.7 million, or two-thirds of the way, toward its goal,  according to…

The inaugural issue of the the CRISPR Journal published an article focusing on the potentials of CRISPR gene therapy in Batten disease. In the study “CRISPR-Cas9-Mediated Correction of the 1.02 kb Common Deletion in CLN3 in Induced Pluripotent Stem Cells from Patients with Batten Disease,” researchers from the…

The U.S. Food and Drug Administration (FDA) has granted a rare pediatric disease designation to Abeona Therapeutics’ investigational ABO-202 program being developed for Batten disease caused by mutations in the CLN1 gene, also known as infantile neuronal ceroid lipofuscinosis. ABO-202 is an adeno-associated virus (AAV)-based gene therapy (AAV-CLN1) where weakened…

Genetic sequencing and the speed with which it can help diagnose a child’s disease — in addition to revealing the genes that cause at least half of the 7,000 rare diseases currently known — was the focus of a discussion by three top New York geneticists. The Feb. 28 conference,…

A genetically modified mouse with increased levels of a specific enzyme in the brain, along with a new genetic tool, may help researchers further their understanding of late infantile neuronal ceroid lipofuscinosis (CLN2) and aid in developing future therapies. The study, “Inducible transgenic expression of tripeptidyl peptidase 1…

When it comes to rare diseases, one that definitely makes the list is spinal muscular atrophy with respiratory distress — SMARD,  for short. Hunter Pageau, a 12-year-old boy from North Haven, Connecticut, is one of only 80 people in the world known to have SMARD, a motor neuron disease…

In his 10 months on the job, Commissioner Scott Gottlieb of the U.S. Food and Drug Administration is earning praise for his efforts to make clinical trials for new therapies more flexible and responsive to the needs of rare disease patients. From cystic fibrosis to epidermolysis bullosa, the FDA…