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The Batten’s Disease Family Association (BDFA) is moving forward with a fundraiser to develop a study in the UK that would use Brineura (cerliponase), an enzyme replacement therapy (ERT), to try to maintain sight in children with a type of Batten disease known as CLN2.

The program would fall under “compassionate use, Which provides expanded access to treatment outside of clinical trials. Brineura, developed by BioMarin, is an approved treatment for CNL2 disease in the United States and Europe, which has been shown to be effective in slowing the progression of motor and speech disorders in pediatric patients.

However, it also appears to have limited benefits in symptoms related to vision.

CLN2 disease, also known as late childhood Batten disease, belongs to a group of disorders called neuronal ceroid lipofuscinosis. 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 visual 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, conducted by the metabolic team at Great Ormond Street Hospital (GOSH), will ultimately provide treatment options for current and future CLN2 families.

“We realize that this campaign is aimed at 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 than in research. states a BDFA blog post about the campaign. “We recognize the importance of research and possible treatment options for this group of devastating conditions.”

Currently, the BDFA is seeking to fund a coordinator position for the program. This coordinator would seek to seriously engage the efforts while fundraising is planned to increase the full costs of the study. Until there, the campaign raised £ 72,958 (around $ 96,950) of a target of £ 80,000 (around $ 106,250), although exact costs have yet to be determined.

The organization recently announced a collaboration with a group of families who have children with CLN2 who are being treated with ERT.

“Families have worked tirelessly to prepare for this launch and we are very proud to be working together to make a difference in the Batten disease community, for the children of today and tomorrow,” said one parents, in another blog post.

Brineura is infused directly into the fluid surrounding the patient’s brain, a method known as intraventricular infusion. Since it is not known whether the treatment can pass through the retina, it is not clear whether administration of 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. The criteria are still being established.

Early-stage clinical trials are underway in Europe and Ohio, and the GOSH team is exploring the idea of ​​running a similar program at the hospital in London, according to the BDFS.

If for some reason the Compassionate Use program does not work, funds raised will go to other BDFA efforts to help Batten patients.

“We are keen to move forward with our fundraising to ensure that sufficient funds are raised to cover costs, but, in the event that we exceed the amount required for the trial, any excess funds will be used by BDFA for the benefit of children and their families who are affected by Batten disease, ”BDFA said.

For more information, write to [email protected].

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