Research Highlights

Research Highlights

conferenceResearch has been gathering momentum over the past few years, enabling us to learn more about this complex condition. In the hope that we can improve quality of life for patients and seek further treatments.

It was a tremendous boost for the AS charity to secure Big Lottery funding of £350,000 (E406,000) to underpin a major research project aimed at providing insights, that could possibly benefit thousands of people suffering with rare diseases and a range of other conditions across the world.

Alström Syndrome UK partnered with the University of Cambridge Metabolic Research Laboratories and NIHR Cambridge Biomedical Research Centre, Birmingham Children’s Hospital, Queen Elizabeth Hospital, Birmingham, and Torbay Hospital in South Devon. Stem cell research is a fundamental part of both the Big Lottery project and the research into dysfunctioning of cilia – an important part of cells in many parts of the body.

The patient database developed by Alström Syndrome UK since 1998 is provided and has now merged into a European database, which gave the research programme a head start head start:

  • Computer software has been developed initially to analysis all the data and update past records.
  • Cell studies and detailed tissue examinations are being undertaken using skin biopsies donated by patients with Alström Syndrome (AS).
  • Additional clinic tests have been introduced to explore the AS phenotype (characteristics displayed by an organism) and confirm genetic patterns and a programme has begun to raise awareness to uncover undiagnosed cases of Alström.

From this research the expert teams would like to ensure more people affected by AS are diagnosed sooner, to be able to improve management of this difficult to treat condition, to be able to better predict the course of the disease and to take the first steps to genetically engineered treatments.

The research has produced:

  • The first-ever structured research programme into Alström Syndrome in the UK
  • The first national clinical database of Alström patients in the UK
  • The first Alström Syndrome tissue bank
  • The first-ever stem cell research into Alström Syndrome

Spin-offs to this research, has created partnerships with the UK Ciliopathy Alliance and the Euro-WABB (Wolfram, Alström, Bardet-Biedl) consortium, which is creating a register to seek better prognoses and treatments – through genetic development and research across Europe not only into the principal syndromes but other less known syndromes.

Clinical Trial

ASUK is pleased to announce that we are working in partnership with the Canadian Pharmaceutical Company ProMetic Bio therapeutics Ltd and the specialist clinical team at the Queen Elizabeth Hospital, Birmingham to support the first clinical trial for people affected by Alström Syndrome in the UK. The primary aim of the trial is to

evaluate the safety and tolerability of PBI-4050 and its effects on inflammatory, fibrosis, diabetes and obesity biomarkers in people affected by Alström Syndrome. It is early days and there are no guarantees that patients taking part in the trial have any clinical benefit, but we hope this trial will enable us to further develop our

understanding of this complex condition and add to the body of knowledge about Alström Syndrome. Further information about Alström Syndrome can be found via our website

Further information about the clinical trial can be found via the website, using the trial reference number NCT02739217.


Media Reviewed: March 2017
Next Review: March 2019