With so few available treatments, we understand that research is a significant priority and source of hope for the leukodystrophy community. Alex TLC actively promotes and supports research in a number of ways.
Alex TLC’s relationship with our patient community is the backbone of our work. The regular feedback we gather from the Alex TLC community keeps us informed and up to date about the impact of leukodystrophy for patients, and what is most important to them. Alongside the lived experience of key staff members, this ensures we can effectively represent patient voice to health and research organisations, keeping patient needs front and centre for optimal progression of meaningful research, and to ensure equitable access to new treatments and diagnostic opportunities.
Our Community Weekend event provides a perfect setting for researchers and scientists to discuss, debate and analyse research alongside direct contact with the patients they seek to help “The caliber and relevance of the science was top-notch. It was a very rewarding use of time. I left with new connections and new ideas for potential collaboration.” Community Weekend 2024 Impact Report.
Our partnerships with the NHS England Inherited White Matter Disorder Patient Service and Registry and Leukolabs, a UK based leukodystrophy research collaboration, provide optimal opportunities to coordinate new research and improve patient outcomes nationally.
We recognise that our community are keen for us to support research in a more tangible way, and we launched a new research strategy in 2023 to directly address this.
As part of this strategy we:
The experiences of parents of children diagnosed with cerebral adrenoleukodystrophy
We collaborated with researchers from Sheffield Hallam University to conduct a research study to understand parents’ experiences of having a child diagnosed with Childhood Cerebral Adrenoleukodystrophy (CCALD). The study is a first of it’s kind and will help to provide evidence towards Newborn screening for ALD. It is a valuable study with the results providing a good opportunity to improve the circumstances for other families. The results will directly feed into initiatives to improve diagnosis and access to treatments for ALD patients. The research article has now been published in Wiley Online Library and is available to view: CCALD study article
A qualitative study exploring family communication following a diagnosis of ALD
We commissioned a study conducted by Jonathan Wells, an MSc Student in Genetic and Genomic Counselling, from Cardiff University School of Medicine. The study was to confirm the perspective of our community on the challenges of sharing a diagnosis. Although these findings were of parents with children receiving a diagnosis of ALD and men affected with AMN, the experiences would be similar for other types of Leukodystrophies. To view a summary of the findings from the study: A qualitative study exploring family communication following a diagnosis of ALD
We recognise that research is a complex area; it can be difficult for patients and those that care for them to understand research development and the legislation that surrounds it.
We provide an accessible “bridge” to the research community through our research communications and activities. Our monthly research summaries outline in plain English the most recent research updates, with clear indications of the impact for patients. Our research activities and campaigns provide opportunities to the Alex TLC patient and carer community to input into research development and elicit change in health and care policy. The National Lottery Community Fund and Ionis Pharmaceuticals, Inc have contributed to the funding of the Research Analyst role.
