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The Beyond Batten Disease Foundation (BBDF) sponsors Care Beyond Diagnosis in its efforts to write international guidelines to help clinicians counsel and treat patients with CLN3 disease or juvenile Batten disease.

Based on clinical evidence and consensus recommendations, the guidelines are designed to improve patient care and disease management, as well as to facilitate reimbursements.

“Having the support of BBDF is a huge achievement for our team,” said Jeffrey Donohue, co-CEO of Care Beyond Diagnosis, in a press release. “Obviously, financial commitment is important for us in order to maintain the program, but in the perspective of the publication of the guidelines, BBDF will play a decisive role in disseminating the guidelines in the hands of families / carers. Engagement of the patient community is a necessity in developing guidelines.

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Given that there are currently over 7,000 diseases considered rare diseases, the vast majority of which lack approved therapies, the clinical management of these patients is a challenge and evidence-based guidelines are essential.

Last April, Care Beyond Diagnosis released the first clinical guidelines for CLN2, also known as late childhood Batten disease, which were published in the Orphanet Journal of Rare Diseases.

The guidelines have been reviewed by an independent panel of experts and follow the AGREE II tool of the Appraisal of Guidelines for Research and Evaluation, a 23-point international tool that assesses the methodological rigor and transparency by which a guideline is elaborate. Each item is rated with a score of one to seven, where one means strongly disagree and seven means strongly agree.

According to the tool, a score of one “should be awarded when there is no relevant information for the AGREE II item or if the concept is very poorly reported”. A score of seven is awarded when the evidence is exceptional and meets all of the criteria and considerations set out in its user manual.

The clinical guidelines for CLN2 received a score of 5.7 out of 7 in the AGREE II tool, which is the highest rating for a rare disease guideline publication, according to Donohue.

Draft guidelines for CLN3 disease began in October 2020 and are expected to be completed by the end of 2022. Submission to a medical journal will be the next step. The guidelines are expected to be available for review by mid-2023.

“The BBDF has had a keen interest in guidelines for the CLN3 community for many years,” said Mary Beth Kiser, president and CEO of the foundation. “Through the work of Care Beyond the Diagnosis, we are able to meet this need and we know it will be a valuable resource for our community of dedicated physicians. “