The Batten Disease Family Association (BDFA) is moving forward with a fundraising campaign aimed at developing a United Kingdom study that would use Brineura (cerliponase), an enzyme replacement therapy (ERT), to try to maintain eyesight in children with a type of Batten disease known as CLN2.
The program would fall under “compassionate use,” which provides expanded access to a treatment outside of clinical trials. Brineura, developed by BioMarin, is an approved treatment for CNL2 disease in the United States and Europe, which has proven effective in slowing the progression of motor and speech impairment in pediatric patients.
CLN2 disease, also known as late infantile Batten disease, belongs to a group of disorders called neuronal ceroid lipofuscinoses. In these disorders, waste molecules build up inside cells, mainly affecting the brain and retina, the thin layer lining the back of the eye that sends vision signals to the brain.
The 18-month program would initially be for CLN2 patients in England who are being treated with Brineura. The hope is that the study, led by the metabolic team at the Great Ormond Street Hospital (GOSH), will ultimately provide treatment options to current and future CLN2 families.
“We realize that this campaign is for a very specific group of children but all children and young people affected by any type of Batten disease, whether they are on treatment or not, are supported by the BDFS, both in family support and research,” states a BDFA blog post about the campaign. “We recognize the importance of research and possible treatment options for this devastating group of conditions.”
Right now, the BDFA is seeking to fund a coordinator position for the program. That coordinator would seek to get efforts underway in earnest while fundraising is planned to raise the full study costs. So far, the campaign has raised £72,958 (about $96,950) of an £80,000 (about $106,250) target, although exact costs have not yet been determined.
The organization recently announced a collaboration with a group of families who have children with CLN2 who are being treated with the ERT.
“The families have been working tirelessly preparing for this launch and we are very proud to be working together to make a difference to the Batten disease community, for children of today and the future,” stated one of the parents, in another blog post.
Brineura is infused directly into the fluid surrounding the patient’s brain, a method known as intraventricular infusion. Because it is not known whether the treatment can cross into the retina, it is unclear whether administering Brineura can save eyesight.
Early studies showed that injecting the therapy directly into the eye could prevent vision loss. Now, the plan is to establish a compassionate use program for eligible CLN2 patients. Criteria are still being established.
Early-stage clinical trials are underway in Europe and Ohio, and the GOSH team is exploring the idea of conducting a similar program at the London hospital, the BDFS states.
If for any reason the compassionate use program doesn’t pan out, funds raised will go toward other BDFA efforts to help Batten patients.
“We are keen to push ahead with our fund raising to ensure that adequate funds are raised to cover the costs but, in the event that we exceed the amount required for the trial, any excess funds will be used by the BDFA for the benefit of children and their families who are affected by Batten disease,” the BDFA said.
For more information, write to [email protected].
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