Patient Led Research Hub

UNRAVEL

Understanding the genetics of ring chromosome 20 syndrome

Ring chromosome 20 syndrome (r(20)) is an ultra-rare and under-diagnosed condition associated with hard-to-treat epilepsy, learning and behavioural difficulties. Many people with r(20) wait years for their diagnosis because the ring formation is difficult to detect using standard genetic assessments. To address this issue, Ring 20 Research and Support UK have joined forces with researchers at Glasgow’s Royal Hospital for Children and biotech company Illumina Inc for their new UNRAVEL study. We’ve helped them secure access to blood samples from patients already diagnosed with r(20) using the NIHR BioResource. Illumina will complete whole genome sequencing on the samples to learn more about the ring chromosome formation, and hopefully lead the way to better diagnostic tools. You can learn more about UNRAVEL here.

LiFE

A patient-led assessment of chronic fatigue in lipodystrophy using fatigue evaluations

Lipodystrophy is a group of rare genetic or acquired disorders where the body is unable to produce and maintain healthy fat tissue. Lipodystrophy UK contacted the PLRH with a ‘top 10’ list of research priorities in July 2016. We worked with the patient membership to refine their questions, and teamed up with medical experts from the National Severe Insulin Resistance Service and Newcastle Centre for Fatigue Research. Together we developed a research proposal investigating chronic daytime fatigue, as unfortunately many patients feel their fatigue is not diagnosed or treated properly, despite its severe impact on quality of life.

We originally secured funding to create a patient registry and research database, but after further consultation with the patient membership, we decided to streamline the database, use standardised questionnaires, and include a subset of participant interviews. We are pleased to have received new funding from Addenbrooke’s Charitable Trust, and are now awaiting final approvals from the University of Cambridge Research Office.

Employment Support in the NHS for Complex Long-Term Conditions

Systemic Lupus Erythematosus (SLE) is a chronic autoimmune disease that can affect any part of the body. It’s often referred to as an ‘invisible’ disease with symptoms fluctuating through flares, relapses and remissions throughout life.

Backed by Lupus UK, Dr Sara Booth contacted the PLRH in January 2019 for support on a new research project investigating employment challenges for people with SLE and other invisible, fluctuating conditions. Lupus UK started this project with a national, online patient survey to identify employment challenges and development opportunities. You can read their report here. Dr Booth, both a patient and clinician herself, wanted to continue this work by exploring support networks and barriers experienced by NHS managers and staff. In 2020, we were awarded Addenbrooke’s Charitable Trust funding for a qualitative study using semi-structured interviews and thematic analysis. Although covid-19 delayed the start of our study, interviews are now complete and analysis is underway. Dr Booth sadly passed away in 2022, and Dr Jennifer Remnant (University of Strathclyde, Glasgow) has stepped in to lead the project.

Long-Term Lithium Use and Chronic Kidney Disease

Bipolar disorder is a severe psychiatric disorder requiring life-long management, often spanning decades with onset in adolescence or early adulthood. Lithium can be an effective treatment to stabilise mood, but is associated with tubular and glomerular kidney damage. Approximately 30% of patients taking lithium long-term will be diagnosed with early stage chronic kidney disease (CKD). Patients are generally advised to discontinue lithium if CKD stage 3 is reached, but there are very few resources available to inform this decision.

Cambridgeshire and Peterborough NHS Foundation Trust (CPFT) service users want to learn more about the implications of long-term lithium use. We approached Dr Rudolf Cardinal and his team at CPFT to help us analyse a preliminary dataset (lithium and kidney test results) from Addenbrooke’s Hospital. This proved very interesting, so Dr Cardinal successfully applied for a larger anonymised dataset. Although the team are still working on this analysis, the idea has inspired multiple tangential projects, including findings that suggest lithium use may reduce the risk of dementia (publication here).

My Sjögren's Diary

A secure patient database to track Sjögren’s Syndrome symptoms and support research

The Cambridgeshire regional support group for the British Sjögren’s Syndrome Association (Sjögren’s Cambridgeshire) is very interested in a wide range of research topics. Together, after consulting with rheumatologists and other patient groups, we decided the best way to serve their ambitions would be to create an online patient portal.

The portal will be a safe, secure and encrypted website, enabling anyone with Sjögren’s Syndrome to interact with their own health data. Participants can list their symptoms and medications (including dietary and non-prescription supplements) and track them over time. Participants may wish to share this information with healthcare providers, to show how symptoms react to changes in lifestyle or new treatments. However, this type of patient-reported data is also very interesting to researchers, as it can be hard to document fluctuations in ‘invisible’ conditions like Sjögren’s Syndrome. Researchers will be able to apply for anonymous datasets through the existing UK Primary Sjögren’s Syndrome Registry.

We secured the 2018 Research Award from the British Sjögren’s Syndrome Association, and have developed the website through multiple workshops with Sjögren’s Cambridgeshire, database programmers and rheumatologists. This project is now led by Prof Wan-Fai Ng, and we are just awaiting governance approvals to launch. We have dedicated this work to Carol Burns, co-founder of Sjögren’s Cambridgeshire, and driver of this project. Carol very sadly passed away in 2020, and is dearly missed.

EASE-PKD

Evaluating chronic pain in ADPKD using a patient-centred approach to data collection and synthesis: a national prospective observational study

Following the success with DRINK (summary here), PKD Charity submitted a second proposal to the PLRH, focusing on chronic pain interventions in autosomal dominant polycystic kidney disease (ADPKD). Chronic pain affects 60% of ADPKD patients and can severely impact quality of life. This is a high priority for patients but unlikely to receive industry funding. The PLRH, PKD Charity, 8 patients and international nephrologists held a workshop in May 2017 to explore the topic and consider feasible trial designs.

We proposed an observational study where participants could enter their own data through a secure website; they will complete standardised questionnaires and also test a new ADPKD-specific pain assessment tool. The website will link with existing electronic health records, allowing researchers to track patient report and clinical outcomes. We are pleased to have been awarded funding from NIHR Research for Patient Benefit for this work, and, following covid-related delays, hope to open recruitment in late 2022. This study is now led by Dr Ragada El-Damanawi at the University of Sheffield.