Investigating Neuropathy and Ophthalmic Biomarkers in Alström Syndrome

We are pleased to share an exciting opportunity to take part in a ground-breaking research study 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 Alström Syndrome. We will do this by exploring new ways to measure how the condition is progressing (biomarkers) in the eye (ocular) and the nervous system (neuropathy).

Why is this study important?

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

What will taking part involve?

If you choose to take part, you will be invited to attend the Clinical Research Facility at either the Royal Devon and Exeter Hospital or the Queen Elizabeth Hospital Birmingham. You will only need to come for one visit that will last up to two hours. During this visit, we will carry out a series of safe, non-invasive tests including taking some images of your eye.  This will help us to examine the structure of the retina and corneal nerves in your eyes.

Who can take part?

We are looking for people diagnosed with Alström Syndrome who are interested in contributing to this important research. Your involvement will provide valuable insights into how neuropathy develops and progresses, helping to improve care for patients now and in the future.

Will I receive any payments for taking part?

You will not receive any payments for taking part but we will reimburse your travel expenses.

How do I get involved?

If you are interested in taking part or would like to find out more, please contact one of the research team members below:

• Professor Mitra Tavakoli
  University of Exeter
  Email: m.tavakoli@exeter.ac.uk
  Phone: 01392 723314
• Professor Tarek Hiwot
  Queen Elizabeth Hospital Birmingham
  Email: Tarekegn.Geberhiwot@uhb.nhs.uk
  Phone: 0121 371 3958
• Dr. Hassan Fadavi
  Clinical Research Fellow
  Email: h.fadavi@exeter.ac.uk
  Phone: 07702619983

We encourage you to discuss this opportunity with your family, friends, or healthcare provider to help you decide. Taking part is entirely voluntary.  You can withdraw from the study at any time and this will not affect your care.

Thank you for considering this opportunity to contribute to valuable research in Alström Syndrome. Your involvement can make a real difference!

ASUK commissioned this report to gain a better understanding of the journey to diagnosis and identify recommendations to improve patient and family experiences and health outcomes.

You can download the report HERE

Encouraging clinical results were released (September 2017) from the first clinical trial in Alstrom Syndrome in the UK, read more about this research below and follow the link to the ProMetic website to read the full press release. 
http://prometic.com/prometic-reports-positive-clinical-data-from-ongoing-pbi-4050-study-in-alstrom-syndrome-patients/

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 the clinical trial can be found via the website www.clinicaltrials.gov, using the trial reference number NCT02739217.

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.

Structures

The project combines unique strengths by linking a European patient-based data collection registry (work package (WP) 6) with the development of widespread availability of genetic testing across the EU (WP-5), and the development of a core dataset of information and evidence based diagnosis and management pathways (WP-4). WP-1 focuses on coordination of the project, WP-2 on dissemination to patients, health professionals and health policy-makers, and WP-3 on evaluation of the project.

You can find out more about the project via their website HERE

London School of Economics: A Cost-Benefit Analysis of Multidisciplinary Treatment & the Impacts of Proposed eHealth Solutions

Students from the London School of Economics investigated costs and benefits of multi-disciplinary clinics (MDC) in rare disease management in connection with AS. Looking not only at the multi-disciplinary clinics but the overall impact that AS has on families lives.

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), a patient-led charity. In a further step, we look 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, we turn 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 read the full report here

Theory of Mind Study

Please follow the website link to read about a Theory of Mind study which focused on communication and sensory functions in people affected by Alstrom Syndrome. The purpose of the study was to explore how cognitive skills that are important for communication can account for differences in Theory of Mind performance among individuals with Alstrom Syndrome. Particularly investigating the dual sensory loss and the impact this has.

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4585138/

In July 2019, ASUK created an infant questionnaire for families to complete.

With the aim of:

• Improving care
• Increasing the understanding of the condition
• Accelerate patient diagnosis.

DATA COLLECTION – WHY IS YOUR PARTICIPATION IMPORTANT?

Early diagnosis and better treatment
Information about AS health in infants will help Clinicians and Researchers recognise patterns in the occurrence of symptoms in particular ‘red flag’ signs that could inform an early diagnosis.

What does this actually mean for patients?
An early diagnosis of AS means patients can receive the right medication and treatment at the right time and share their experiences with others sooner. 

Diagnosis is complex, as very often infants do not present with the same set of symptoms –  AS can affect babies in different ways.

Results

Families kindly took part and provided useful data. You can read the results from the early years study HERE

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