The levels of abnormal storage material inside certain immune cells could be used as a biomarker of disease activity and response to treatment with late infantile Batten disease, or CLN2 disease, a new study shows. Data showed that over three years of treatment with Brineura (cerliponase alfa) —…
News
Regenxbio says it will test RGX-381, its investigational gene therapy for eye problems associated with neuronal ceroid lipofuscinosis type 2 (CLN2) disease, in a first-in-human Phase 1/2 clinical trial that remains on track to begin in the first half of this year. The trial will evaluate the one-time…
Vision problems — specifically deteriorating visual acuity and quality — were some of the first symptoms of juvenile Batten disease detected in four children with the rare inherited disorder, also known as CLN3 disease, according to a new study. These early vision problems appeared before or alongside other neurological…
Structural and functional changes in the retinal pigment epithelium (RPE) — a cell layer in the eye that nourishes the light-sensing cells — may be behind the progressive vision loss seen in juvenile Batten disease, or CLN3 disease, according to a recent study. Using lab-grown patient-derived and healthy RPE…
Neurogene has decided to discontinue its research program focusing on CLN7, a form of late-infantile Batten disease, including the CLN7 portion of its natural history study. The goal of this natural history study (NCT03822650), focused on patients with CLN7 and CLN5 forms of Batten disease, is to…
Some cases of Batten disease may present with clinical features of Rett syndrome, including Rett’s hallmark repetitive hand movements, according to a recent case report concerning two young girls. Features that helped distinguish Batten disease in these girls included vision loss, early brain shrinkage (atrophy), and evidence of…
Longitudinal MRI imaging in naturally-occurring sheep models of CLN5 and CLN6 disease — two types of Batten disease — revealed early and progressive brain volume loss, a study showed. A feature of this atrophy was the loss of gray matter and an increase in volume of the cerebrospinal fluid…
A single intravitreal injection — into the vitreous cavity, in the back of the eye — of a gene therapy was found to preserve the function and structure of the retina in a dog model of late infantile Batten disease. Eye inflammation was…
Treatment for up to two months with Batten-1 — Theranexus’ novel therapy for juvenile Batten disease, also known as CLN3 disease — was found to be generally safe and well-tolerated in patients ages 17 and older. That’s according to early data from an ongoing two-year Phase 1/2…
Alterations in producing, transporting, and degrading proteins, as well as in neuronal activity, are likely involved in juvenile Batten disease, according to data from lab-grown neurons from a patient with the most common disease-causing mutation. These findings point to previously unknown mechanisms that may lead to neurodegeneration among patients…
Recent Posts
- The part of rare disease care they don’t prepare you for
- Wearable device may aid Batten disease children with vision loss: Study
- Acknowledging the invisible cost of being a caregiver for Batten disease
- Many juvenile Batten disease patients face mental health issues: Study
- Our Batten disease journey carries on quietly, but with determination
- For our rare disease family, February is about love, advocacy, and unity
- Study maps juvenile Batten disease timeline, aiding care planning
- Rare disease awareness is about a brighter future for all of us
- Advocacy and communication were key to receiving quality care in a crisis
- Miglustat may slow physical decline in juvenile Batten disease: Study