Patient Led Research Hub

Treating TANGO2 with vitamin B5

TANGO2 deficiency is an ultra-rare genetic condition that can cause serious metabolic crises, muscle breakdown, heart rhythm problems, and learning difficulties. There is no specific treatment, with clinical care aiming to manage symptoms as they appear. However, a recent natural history study and pre-clinical work in fruit flies and human cells, have begun to evidence the benefit of vitamin B5 (pantothenic acid) in restoring healthy function, as it helps the body produce coenzyme A which is essential for energy production and fat metabolism.

Many families have decided to use vitamin B5 supplements for their children with TANGO2, with widespread improvements in energy, fewer crises, and better general health. TANGO2UK are keen to clinically evaluate these anecdotal reports to understand safety, inform dosage from infancy, and encourage prescription. Ideally this work will also contribute to TANGO2’s inclusion within NHS newborn screening, ensuring effective treatment from birth and improved lifelong outcomes.

Clinical presentations of CASK gene mutations

CASK-related disorders are ultra-rare neurodevelopmental conditions with a broad range of symptoms caused by variations in the type of genetic mutation and mosaicism. Most cases reported in medical literature describe non-verbal individuals with complex and severe symptoms, and poor quality of life with limited independence. Milder cases are likely under-reported, as affected individuals often require less clinical support and may not come to medical attention.

CASK Research aims to support their families by presenting a clear picture of CASK-related disorders and the range of potential symptoms. Of particular importance to the charity is documenting communication, emotional and social behaviours, expanding a 2025 publication ‘The neurodevelopmental spectrum of CASK-related disorder‘ co-authored by CASK Research and geneticists at the University of Cambridge. As a first step, we are reviewing published literature and exploring the patient-reported RARE-X database.

Neurological consequences in Congenital Hyperinsulinism

Congenital Hyperinsulinism (CHI) is a rare but serious condition that affects how the body regulates blood sugar. It is the most common cause of persistent hypoglycaemia in infants and children and a major cause of hypoglycaemic brain injury. CHI families are keen to understand which brain areas are the most affected and the potential correlation with other neurodevelopmental disorders. They are concerned about the long-term neurological consequences associated with hyperinsulinism, particularly as accessing appropriate and timely clinical care, including support for children in education, is difficult and highly varied across the UK.

To begin improving the care pathway for children with CHI, we first need to understand the existing process for neurological assessment, referral, and treatment across the UK. Led by the Children’s Hyperinsulinism Charity, we’ve teamed up with paediatric clinicians, specialist nurses, geneticists, and medical students to conduct a service evaluation. We aim to issue two surveys – one for healthcare professionals, and one for families – to understand practice and experience. From here, we hope to develop a new national framework for CHI care to improve access and support for families across the UK.

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. In July, we applied to the Medical Research Council for funding to conduct a randomised controlled cross-over trial. Unfortunately we were unsuccessful as reviewers felt further feasibility work was required; we are working on revising our application for spring 2026.

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; we incorporated this information into a device developing funding application, but unfortunately were not successful. The team are now working to revise and resubmit the application spring 2026.