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Amicus Therapeutics‘ investigational gene therapy for CLN6 Batten disease may halt disease progression in children, according to interim results from a Phase 1/2 clinical trial. Early data showed that a single injection of the AAV-CLN6 gene therapy stabilized the decline in children’s motor and language abilities while remaining well…
A one-time treatment with an investigational gene therapy prolongs the lifespan in a mouse model of CLN6 disease, and ameliorates motor, learning, and memory impairments, a study shows. The therapy’s safety and efficacy is currently being evaluated in a Phase 1/2 trial (NCT02725580) in…
Neurologists and researchers have tailor-made an antisense oligonucleotide therapy (ASO) for a 6-year-old girl who has CLN7 Batten disease, and it cut to half her number of daily seizures and reduced by more than 80% how long each seizure lasted. The therapy was developed at Boston Children’s Hospital…
The Ultimate Fighting Championship (UFC) lifted the spirits of a boy named Sebastian recently while helping to make everyone more aware of Batten disease, the foe Sebastian and his family are fighting. Earlier this year, Sebastian’s father, Chris Velona, asked UFC to help raise awareness of Batten, a genetic disorder…
Next month’s annual conference of the National Organization for Rare Disorders (NORD) in Washington, D.C., couldn’t come at a better time, says Marshall Summar, MD, chairman of NORD’s board of directors. “The pace of discovery in rare diseases has gone from brisk to hypersonic,” Summar told Bionews Services, publisher…
When Ollie Carroll was 5 years old, the British boy made history by becoming one of the world’s youngest Batten disease patients to begin receiving Brineura (cerliponase alfa), a very expensive yet effective therapy for kids with CLN2 — one of 14 subtypes of the illness. While…
Laura King Edwards ran a half-marathon as a fifth anniversary nod to her sister’s first race — a 5K school run in 2008 that would be but a happy memory had Taylor King not been diagnosed with Batten disease (CLN1) some two years earlier, and already blind. Fittingly, Edwards — who…
Extracellular vesicles derived from a type of immune cell called macrophage may hold potential as a less-invasive delivery system of TPP1 — the enzyme missing in patients with CLN2 or late infantile Batten disease — to the brain of affected individuals.
Rare diseases deeply affect not only the children who experience them, but also their healthy brothers and sisters, as their parents can attest. Two entries in November’s “Disorder: The Rare Disease Film Festival” will focus on what siblings go through, according to the San Francisco festival’s co-founder,…
Developing gene therapies for rare diseases is one thing. Creating gene-edited “designer babies” is quite another. German legal expert Timo Minssen outlined the potentially explosive ethical landmines surrounding such issues during a recent talk at the New York Genome Center. Minssen directs the Center for Advanced Studies in…
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