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ASUK Research

“Bringing Hope to Patients”

ASUK endeavour to raise awareness of this ultra rare condition and lead on pioneering research and treatments to help sufferers.

First Clinical Trial for AS in the UK

In December 2015, The Queen Elizabeth Hospital, Birmingham (QEH) opened as a clinical trial site for the first clinical trial for people affected by Alström Syndrome in the UK. Working in partnership with Alström Syndrome UK (ASUK) and the Canadian Pharmaceutical Company ProMetic Bio therapeutics Ltd., Dr. Tarek Hiwot, Consultant in Inherited Metabolic Disorders, is leading this trial as the Principal Investigator and is supported by the specialist research team at QEH. The first patient with a diagnosis of Alström Syndrome was recruited in February 2016.

The clinical trial drug (PBI-4050) aims to halt the progression and
possibly reverse some of the effects of fibrosis (scarring) which is one of the main problems associated with Alström Syndrome. The trial drug may also have the potential to improve sugar and fat levels within the body, improving diabetes and obesity and reducing insulin resistance.

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.
All patients recruited to the trial will take the trial drug in capsule form. There will be no placebo, which means everyone taking part will receive the trial drug.

The trial has received ethics committee approval and is only open to
people affected by Alström Syndrome who are over the age of 16 and
meet the trial’s eligibility criteria. Dr. Hiwot has ensured all safety
measures are in place and that all patients will be closely monitored
throughout the duration of the trial.

ASUK are working closely with colleagues at QEH and will be providing support to patients and their families, organising accommodation, travel and any assistance required throughout the trial to make it as easy as possible for those who want to participate.

While ASUK is hopeful that this trial will be a success, it is important to remember that this trial is for research purposes only and there is no guarantee that patients will have any clinical benefit. However, ASUK believe this to be an exciting opportunity and are hopeful that this trial will enable us to further develop our understanding of Alström Syndrome and further contribute to the management and treatment of this ultra-rare disease.

For further information on this trial you can visit www.clinicaltrials.gov using the trial reference number NCT02739217.

Further information about ProMetic can be found on their website

Please get in touch with ASUK National Development Manager, Kerry Leeson-Beevers if you would like to learn more about this trial. You can call her on 01709 210151 or email kerry.leeson@alstom.org.uk

London School of Economics Cost Analysis Research project

In 2014, we worked with the London School of Economics (LSE) to research the ‘Cost-Benefit Analysis of Multidisciplinary Treatment & the Impacts of Proposed eHealth Solutions’.

The report investigated the costs and benefits of multi-disciplinary clinics (MDC) in rare disease management in connection with AS. To this end, extensive interviews were performed with a number of patients and health practitioners at Queen Elizabeth Hospital (QEH) and Birmingham Children’s Hospital (BCH), and a survey was conducted among all members of Alström Syndrome UK (ASUK). In a further step, they looked at how these MDCs could be further developed into virtual clinics and virtual data hubs with the help of new technological developments in electronic healthcare (eHealth). Finally, taking a more holistic view, they turned to AS disease management as a paradigm for other rare diseases and how the ASUK approach to treatment could be replicated to service other charities. You can download a copy of the full report here.

We would like to thank the LSE team;  Oliver Holtkemper, Luca Giacovazzi, Fabian Davison, Stephanie Van Groenendael, Zexin Huang and Qiaoying Wang for their thorough and comprehensive research and final report.

Asterix Project

ASUK National Development Manager, Kerry Leeson-Beevers is a member of Asterix as a Think Tank member. This is an EU project which is developing clinical trial designs for small patient populations. You can find out more about their work through their website http://www.asterix-fp7.eu/


Use of Biological Materials in Research

In light of recent developments in technologies such as whole genome sequencing and the increasing practice of exchanging samples and data between centres and across borders, the Council of Europe’s Committee on Bioethics is updating its 2006 Recommendation on ‘the use of biological materials of human origins in research’. In March, the Council issued a consultation document and asked for views on the proposed amendments. The Recommendation aims to protect the rights and privacy of individuals who give biological samples (like blood or skin) for research and gives guidance to researchers on storing and using the samples.

Alström Syndrome UK is a member of the Rare Disease Patient and Ethics Council which co-ordinated a collaborative response including: the RD Connect, Neuromics and Eurenomics projects; the Patient Advisory Council for those projects; the Interdisciplinary Scientific Committee of the International Rare Disease Research Consortium (IRDiRC); and Eurobiobank.

The response emphasised the importance of balancing individual citizens’ right to privacy and their right to receive medical treatment and benefit from prevention of disorders through the advancement of research. We emphasised the scarcity of biological materials within rare disease research and therefore the importance of being able to re-use samples for more than one research project, including making samples available across different countries and different disease groups.

The Council of Europe is a human rights organisation which works directly with the European Parliament. The response can be found here and the original consultation document here.

Big Lottery Research Project

Below you will be able to read more about our BIG Lottery research project and the European Euro Wabb project.

In Partnership With

Birmingham Children's Hospital logo

 Funded by the BIG Lottery

BIG Lottery LOGO

World class research project began in 2010 thanks to a Big Lottery grant of nearly £350,000.

The research project will be carried out by Cambridge University and Hospitals in Birmingham and Torbay, but it will be led and managed by Alström Syndrome UK. The first Alström clinical trials took place at Torbay Hospital in September 2010 under the team headed by Dr. Richard Paisey and will continue at Birmingham Children’s Hospital and The Queen Elizabeth Hospital, Birmingham.

The research aims to improve the use of current treatments, and help identify therapies, with the implanting of healthy stem cells to combat the disease – a longer term possibility for the future. Millions more people suffering from heart and kidney problems, obesity and diabetes could be helped through valuable spin-off from this research.

The research will produce:

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

Importantly we expect:

  • To discover more people who have Alström Syndrome
  • To be able to improve management of this difficult to treat condition
  • To be able to better predict the course of the disease
  • To take the first steps to genetically engineered treatments

The photograph below shows the very first skin biopsies to be taken for the research project at Torbay Hospital in 2010.

Photograph of First biopsy being taken at Torbay Hospital in 2010
 What are we doing with all this information?

All of the information will be put into a computer database, which will gradually build up a more detailed picture of Alström Syndrome than we have ever had before.

If you are involved in this exciting project and would like more detailed information about the work of the charity or the condition itself, please click on each title below to download the ASUK literature:

Medical Handbook

ASUK Charity Leaflet

Asian Mentoring Leaflet

Annual Report and Accounts 2012 – 2013

ASUK Newsletter Winter 2013

Medical handbook front cover

Key Findings

Thank you to everyone who has taken part in this exciting project.

Please click here to see a summary of the key findings.

The EURO-WABB Project

An EU Rare Diseases Registry for Wolfram syndrome, Alström syndrome, Bardet-Biedl syndrome and other rare diabetes syndromes.

The EURO-WABB Project is a collaboration of doctors, scientists and patient support groups from all over Europe. Within the EU Health Programme 2008-2013 and its call for promoting health through the creation of new registers for rare diseases, EURO-WABB is supported by The EU Directorate General for Health and Consumers (DG-SANCO) via its Executive Agency for Health and Consumers. The overall aim is for this register to be a key instrument to increase knowledge on these rare diseases, improve the lives of affected people through better management, and to develop clinical research.

Wolfram, Alström, Bardet-Biedl (WABB) and other Rare Diabetes Syndromes

WABB syndromes constitute a group of rare, heritable disorders linked by intolerance of the body to glucose. Each of these syndromes affects other parts of the body, including hearing and vision. This Register is mainly directed towards Wolfram syndrome, Alström syndrome and Bardet-Biedl syndrome; however its scope includes some other rarer syndromes including Wolcott-Rallison syndrome and Thiamine-responsive mebaloblastic anaemia, deafness and diabetes syndrome. Long term studies on these syndromes are desperately needed to understand their natural history, relate genetic diagnosis to predicting outcomes, to establish a basis for evidence-based management, and to develop new treatments.

Photo of the EURO-WABB consortium group in Paris
The EURO-WABB consortium group in Paris, April 2011.

If you would like further information please visit their website www.euro-wabb.org

Media Reviewed: August 2015
Next Review: August 2017