Press Release

Alström Research Developments

In October 2024, the Alström Syndrome UK (ASUK) Medical and Scientific Advisory group (MSAG) met to discuss progress in Alström Syndrome (AS) research and to explore next steps. Members of the group also stayed on to join the Alström Syndrome Family Conference and listened to our community share their thoughts, experiences and hopes for the future.

Researchers and clinicians left the conference feeling inspired and have continued to meet regularly and drive forward with new research initiatives.

We are so pleased with the progress that has been made and wanted to share an update with you all on these new developments and the ways you can also get involved.

Alström Syndrome Workshop

We know from previous feedback that research into sight loss is one of the main priorities for people living with AS and this is one of the main messages the MSAG took away from the conference.

At the start of 2025, the MSAG submitted an application to the University of Birmingham Institute of Advanced Studies to hold a workshop on AS with a specific focus on sensory loss. We are delighted to announce that the application was successful. This will be an opportunity to collaborate with different departments at the University of Birmingham including scientists and education specialists and our clinical teams at Birmingham Women’s and Children’s Hospital and the Queen Elizabeth Hospital, Birmingham.

We are also working with other sight loss specialists including experts from Moorfields Eye Hospital and hope to learn from developments in other conditions such as Usher Syndrome, Bardet Biedl Syndrome and Leber’s Congenital Amaurosis (LCA).

You may have seen the recent news article about the successful gene therapy trials for LCA in the UK. We know that gene therapy would be challenging for a condition like AS due to the size of the AS gene (ALMS1). As technologies and techniques advance, we hope to be able to learn from gene therapy trials and other studies involving larger genes and ways that the AS community may benefit from these exciting developments.

Following the workshop, there will be an opportunity to apply for additional funding from the University of Birmingham to take forward the ideas and research possibilities that are generated through the workshop discussions.

ASUK will work closely with the MSAG to plan this event to include the voices of people with lived experience. The workshop numbers will be limited, and we will be inviting people with lived experience, academics, researchers and clinicians. We plan to hold a global webinar before and after the workshop to gather your views and to provide feedback.

Drug Screening Programme

Researchers in Birmingham have been developing cells with the support from the AS community who have kindly donated samples. Findings have shown that the cells in people with AS grow old more quickly. This premature ageing is called senescence.

At the end of 2024, the MSAG submitted an application to the LifeArc Centre for Acceleration of Rare Disease Trials (ARDT). The purpose of the LifeArc ARDT Centre is to improve the efficiency of rare disease trials and provide better opportunities for people to take part.

This is a collaboration between Newcastle University, University of Birmingham and Queen’s University, Belfast. As part of this new initiative, the University of Birmingham are funding 5 non-clinical PhD studentships to develop models that will allow treatments to be tested in rare disease clinical trials.

We are really pleased that our application was successful, and a PhD student is currently being recruited to start work on AS. This is a 4-year programme where the PhD student will work with scientists and clinicians in Birmingham, and with ASUK and Newcastle University. The aim is to find drugs to target premature ageing (senescence) and improve health outcomes for people with AS. Our hope is that this could lead to a clinical trial and an effective treatment.

Neuropathy Study

A new study is being led by Professor Tarek Hiwot from Queen Elizabeth Hospital Birmingham and Professor Mitra Tavakoli from the University of Exeter. This study aims to better understand and assess pain and neuropathy in people with AS. The team will do this by exploring new ways to measure how the condition is progressing (biomarkers) in the eye (ocular) and the nervous system (neuropathy).

Pain and nerve damage (neuropathy) can significantly impact the quality of life for people with AS and other related conditions. Clinicians are not sure what causes this. This study will develop new ways to diagnose and assess nerve damage. The hope is that this will help improve diagnosis and future treatments.

Adults attending the AS multi-disciplinary clinics in Birmingham are being invited to take part. An information sheet will be available with further details about the study and Professor Tarek Hiwot and his team are available to answer any questions if you are interested in taking part.

Leaping forward with frogs! 

During the 2024 conference, we were joined by Charlie Softly from Keele University. Charlie came along to share information about her research into ciliopathies and her specific interest in AS.

Following the conference, the ASUK Board of Trustees agreed to contribute funding to support a PhD student to work alongside Charlie to further this research. This PhD programme will train the student to work with model organisms and to understand underlying causes of ciliopathies, focussing on AS. This will involve two different animal models: the African clawed frog (Xenopus laevis), and a type of aquatic flatworm (Schmidtea mediterranea).

In research, it is important to have good models of a condition to be able to carry out drug discovery and test future gene therapies before treatments are given to people. To do this, we need a deep understanding of the condition and the model. This could then lead to drug screening and opportunities to test new treatments.

This will be a 3-year project starting in August 2025. Charlie (pictured below at the ASUK conference) is keen to engage with the AS community and will be sharing updates on progress at future webinars, conferences and events.

You can read more about Charlie’s research in our winter 2024 newsletter https://www.alstrom.org.uk/winter-newsletter-out-now-2024/

 

How can you get involved?

Let’s Get Research Ready and Connect Communities

We often talk of getting ‘Research Ready’, but what does this actually mean?

Researchers and drug developers like to know the numbers of people diagnosed with the condition before deciding whether to take research forward. We have been working collaboratively across the globe with other Alström communities, to try and get a true global picture, but the numbers are often patchy. We want to be research ready so that when researchers ask how many people are diagnosed in different countries, we know the numbers and can gain more information if and when needed.

We have a comprehensive database with details of people living in the UK but if you live outside of the UK and would like to be included in the global database, we are asking for very simple information to build a global picture. We will be in touch when we need further detailed information. The information will be held safely and securely on our global database, and only anonymised data will be shared. It is quick and easy to complete, all we need is the name and address of the person diagnosed, date of birth, details of parents, carers if under the age of 18 and an email address.

We are often approached by individuals looking for other people who are diagnosed in their own country. This would also be a great opportunity to help connect families together, we would always ask your permission before sharing your personal details.

All you need to do is, follow the link https://forms.gle/BTgkGzGX514xdE6KA to add your information to the form, scan the QR code (right) or send your information to Catherine Lewis,  catherine.lewis@alstrom.org.uk

Join us to find out more…

To celebrate World Alström Day we will be holding a Research Ready Webinar, where alongside Professor Tim Barrett, we will be able to tell you all about the latest research initiatives and future developments.

Join us online on Thursday 1^st May 2025 from 6:30 – 8:00 pm (UK BST time). You will need to register for the webinar by clicking on the link below or scanning the QR code below https://events.teams.microsoft.com/event/90a7708e-a1e0-4d62-9bcd-b7f0050ca69d@b72943d1-a23d-477d-b9ee-07b09bc1c27e

We also plan to co-produce some resources with the AS community to help explain more about research and the drug development process. When opportunities to take part in research do come along, we want people to feel ready and supported to make informed decisions.

 

Thank you to all the researchers, clinicians and scientists for all their hard work,
support and for the efforts to strive forward with research to search
for the very best treatments for the AS community.

Let’s continue to work together across the globe
to drive research forward and discover better treatments.

Please feel free to contact us if you would like any further information or to check you are on our mailing list
so that we can make sure you are included in further updates.

Exciting times ahead!