Patient Led Research Hub

Pathway of Clinical Care in Neurofibromatosis Type 1

Neurofibromatosis type 1 (NF1) is a rare genetic condition that causes tumours to grow along nerves. The tumours are usually non-cancerous, but can cause severe complications, pain, and significantly impact quality of life. About half of those affected also experience learning and behavioural difficulties. Early diagnosis is key to appropriately monitor the condition, allowing timely screening and intervention. Although the NHS provides two excellent specialised Complex NF1 clinics, there is no standardised care pathway and limited non-specialised support.

Childhood Tumour Trust are keen to address the lack of ‘joined up care’. To start, we’re collaborating with a range of healthcare providers, patients and families to create two service evaluation questionnaires. Our aim is to document diagnostic and clinical experiences from both patient and clinician perspectives. We can compare the results to existing guidelines and see where further education or resource is needed.

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.

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.