The charity has five strategic objectives. Below we summarise how we progressed against these objectives in 2024.

Awareness & standards of care: as part of the Rare Bone Collaborative Network, we have been supporting the establishment of a new NHS Rare Disease Care Network (RDCN) of over 22 hospitals across the UK. Together we have developed a networked service model for care of adults with rare bone conditions in England.

Access to new treatments: We contributed evidence as the lead patient group to Health Technology Assessments for burosumab for adults with XLH, both in England and Wales and in Scotland. The charity welcomes the news that adults with XLH will now be able to access burosumab across the UK.

Information and support:  We held a Community Day in Birmingham in June 2024 which got positive feedback and was well attended. We produce a news digest – XLH UK Navigator – which reaches over half of the UK XLH population. We provided webinars to inform the community about the NICE decision and what this will mean in practice as burosumab becomes more widely available.

Research and evidence generation: We built evidence on Quality of Life for adults with XLH based on an extensive survey of UK patients. This has been scientifically analysed and validated and is available as a white paper in our library.  Evidence of the impact of XLH on family carers was collected and presented to NICE as part of the ongoing Health Technology Assessments on access to burosumab. 

High performing, sustainable organisation: XLH UK contributed to an International XLH Alliance meeting with members from over 20 countries coming together to learn from each other. Our charity has a clear strategic plan and regularly reviews its policies, risk management and fundraising plans to enable it to thrive into the future.

XLH UK has been active with the UK community and well connected to international developments since it was founded as a charitable trust on November 18th 2017. The trust was formed by Oliver Gardiner, Nicholas Papé and Amy Lee.

2018 was a momentous year for XLH UK, when we were able to contribute to the Health Technology Assessment that led to NICE guidance recommending burosumab for treating X-linked hypophosphataemia in children and young people which you can read more about here. 

In contrast, the years 2019 – 2021 saw support limited by the pandemic. Most activity was conducted online, including webinars with medical experts and updates on the Early Access Trial for burosumab in the adult population.

XLH UK is a founding member of International XLH Alliance, a network of national patient groups for those with XLH around the world. Working together internationally with medical experts from multiple disciplines has accelerated research and knowledge transfer for all concerned. XLH UK supported IXLHA with accounting, IT and administration services whilst it was forming but the two charities are now legally and financially independent from each other.

2024 was another momentous year for XLH UK, as we led a vigorous campaign to collect evidence on the impact of burosumab in the adult population. This contributed to the NICE decision to make burosumab available to adults with XLH on the NHS, a decision that will lead to all four nations of the UK providing this life changing treatment.

Our values – accountability, integrity and transparency – underpin everything we do.

The XLH UK Board of Trustees are volunteers who are legally responsible for the organisation fulfilling its charitable objectives.  If you believe you have the time and interest to become a trustee, please contact the Chair in confidence at sarah@xlhuk.org 

The XLH UK Board is supported by volunteers, whom we would like to thank. If you are interested in volunteering, please click here.

XLH UK is lucky to have the support of a selection of multi-disciplinary experts who are knowledgeable about XLH. The Committee’s role is to connect with other experts in UK and abroad, to shape necessary research and advise on how to optimise treatment and care pathways.