Participating Project

Project information

Helping children with juvenile Batten disease

Juvenile Batten disease is a rare, inherited disease with devastating symptoms. Tragically, children affected lose their lives. The ultimate goal of this project is to provide new treatments for children with this cruel and little understood disease.

May 2015 - April 2018

Charity information: Action Medical Research

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  • Need

    Need

    Children with juvenile Batten disease suffer a range of distressing symptoms. They start to lose their vision, typically between ages 4 and 7, and develop epilepsy and psychiatric issues. Their physical and mental skills regress and they become severely disabled. Sadly, the disease is fatal. The gene for the disease was discovered nearly 20 years ago, but there is no cure and no effective treatment. We’re determined to see this change.

    Solution

    As well as working to understand more about this rare disease, researchers are investigating whether a medicine that’s already widely and safely used to control blood pressure in adults might help children with juvenile Batten disease. Exciting preliminary evidence suggests that it might. This study could, therefore, be a vital step in developing an effective treatment.

  • Aims

    Aim 1

    To improve understanding of juvenile Batten disease – this would be a major advance

    Activities

    » Reveal what a protein called CLN3 does, and so learn more about disease processes and genetic changes that lead to children’s symptoms

    The researchers will describe their findings and highlight potential next steps. Action will assess and share the likely impact of the research.


    Aim 2

    Discover if an existing medicine could be used to help children with juvenile Batten disease

    Activities

    » Test, in the lab, whether a drug called nifedipine, used to control blood pressure in adults, might be a suitable treatment

    The researchers will describe their findings and highlight potential next steps. Action will assess and share the likely impact of the research.


  • Impact

    Impact

    We hope that this research will prove to be an important step along the path to developing an effective treatment for juvenile Batten disease and so alleviating children’s suffering. When tackling rare diseases, the research process can take many years and it is only with hindsight that the contribution of specific studies can be demonstrated – but making a start is absolutely vital. We share successes with a wide audience so funders can, over time, see the difference their support has made.

    Risk

    The risk is that the project team may not make any significant progress and meet their intended objectives; however they are required to submit annual interim reports to confirm advancement.

    Reporting

    After the study has finished, the researchers will provide a full report, measuring achievement against objectives. Action may produce an impact report , and we’ll look to communicate this through our Touching Lives magazine and the media.

  • Budget

    Budget - Project Cost: £193,328

    Loading graph....
      Amount Heading Description
      £193,328 Researcher costs Funding a project team of two researchers at Cardiff University
  • Background

    Location

    This project is taking place at Cardiff University’s School of Biosciences. The faculty has an international reputation for advanced research, supported by a range of high quality facilities, including a specialist laboratory run by Dr Emyr Lloyd Evans.

    Beneficiaries

    Families around the world are living in hope that a new treatment will one day be available for juvenile Batten disease. A treatment that can stop, or slow, the progress of this devastating rare disease is badly needed.

  • Why Us?

    Why Us?

    With 65 years’ experience, Action Medical Research is the leading UK-wide charity funding vital research to help sick and disabled babies and children. Through our gold standard peer review system, we find and fund research most likely to deliver real benefit to children.

    Read more about the Charity running this project.

    People

    Dr Emyr Lloyd-Evans MBiochem DPhil

    Lead researcher. An expert in the biology of lysosomes in health and disease with a successful research track record.

    Mr Luke Haslett MBiochem

    Researcher