Batten Disease Parent Survey Results They Want Answers

Andrew Black and James Radke

Parents or patients attending conferences want to be updated on all the latest research news. They can also help strengthen research and trial development. In order to find out what parents and patients want to know and how they want to contribute to research, a questionnaire was recently conducted.
During the annual BDSRA Family Conference in July, Drs Augustine and Frazier ask audience members about the latest research and what they, as patients and caregivers, wanted from the research and clinical community.  The results of that survey were presented at 15th International Conference on Neuronal Ceroid Lipfuscinosis (Batten Disease); Boston, MA; October 5-8, 2016


Nearly 40% of parents at the conference felt they were not adequately informed about the latest research. 50% of the surveyed audience had given input into research priorities.
As expected, majority wanted treatments to slow the disease. However, very few were interested in developing care guidelines or developing new treatments for specific symptoms as a top research priority.
When asked about which symptoms they wanted to treat for Battens disease were (in rank order:
  1. seizures
  2. vision loss
  3. cognition/dementia
  4. mobility/motor function

Questions asked by surveyed audience

Major themed questions that the audience asked were finding a cure, can symptoms be reversed, if a cure or treatment is discovered that will modify disease, and what can I do to help?
For questions about Battens disease clinical trials, the majority of the audience surveyed wanted to know more about different types of treatments such as gene therapy, enzyme replacement, stem cell treatment. They also wanted to know which trial is best to join (if more than one option available) and why are there trials for some forms of Batten disease but not others? Also Why do some kids get into trials but others do not?

Getting Involved

When asking the parents and patients how they would like to be more involved in research, the  top answers included; completing online surveys, participating in clinical trials of experimental treatments, and parent advisory groups.
Individual researchers and patient groups can do more to engage parents with online surveys, distance learning and polling opportunities and in-person options to help strengthen trials and research.


Frazier M, Augustine E. Engaging families in research workshop: Dialogue with parents and researchers. Presented at the 15th International Conference on Neuronal Ceroid Lipfuscinosis (Batten Disease); Boston, MA; October 5-8, 2016. Abstract O36.

This article was made possible by a sponsorship from BioMarin Pharmaceutical Inc. Rare Disease Report has sole control over the editorial content.
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