Patient Led Research Hub

Drug Repurposing in Idiopathic Hypersomnia

Idiopathic hypersomnia (IH) is sleep disorder characterised by excessive daytime sleepiness, sleep drunkenness (difficulties waking from sleep), and brain fog. IH significantly affects quality of life for patients and their loved ones; it is difficult to reliably diagnose and there are no disease-specific treatments. Hypersomnolence UK, along with European colleagues, are keen to explore the potential of repurposing an existing adenosine antagonist medication as a new IH treatment. To assess this proposal, we have teamed up with sleep and respiratory consultants, reviewed existing patient-reported datasets to consider the unmet need, completed a UK-based scoping participant survey, and reviewed case studies. We look now forward to building our research team and securing funding to conduct a feasibility trial.

Breathing Abnormalities in Pitt Hopkins Syndrome

Pitt Hopkins Syndrome (PTHS) is an ultra-rare condition caused by a genetic mutation on chromosome 18. PTHS is associated with characteristic physical features, developmental delay and learning difficulties. Many patients also experience frequent episodes of hyper-breathing and/or apnoea. Pitt Hopkins UK is interested in learning more about these breathing anomalies: why do they affect only some people, what are the long-term consequences, and how can they be treated?

Pitt Hopkins UK and the PLRH have teamed up with geneticists and respiratory researchers in Cardiff and Bristol to look into these symptoms. We were very pleased to have nearly 100 responses from patients, families and carers to a detailed online survey about breathing anomalies. The results have helped us identify how a wearable breathing sensor might work, and we’re now aiming to apply to a device development funding pathway.

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 and service user workshops are complete, and the manuscript is underway. Dr Booth sadly passed away in 2022, and Dr Jennifer Remnant (University of Strathclyde, Glasgow) has stepped in to lead the project.