Past research projects
These are research projects funded by The Lily Foundation that have now been completed.
You can also read about current research project we’re actively funding.
Can red light lift droopy eyelids in mitochondrial disease? This small pilot study, being run by Professor Glen Jeffery and the team at UCL Institute of Opthalmology, will test the potential for red light therapy to treat ptosis in children aged between 3 and 17 years old with mitochondrial disease.
Background
Mitochondrial disease can result in restricted mobility including ptosis, an inability to fully open the eye. Mitochondrial function is improved by red light and there is evidence that this improves ptosis.
Aims of this study
This pilot study will use red light and measure its ability to improve eye opening in children with mitochondrial disease. Families will be given a specially designed, safe-to-use torch to shine a red light through the closed eyelid for three minutes a day and will visit the hospital for assessments throughout the duration of the study. The results will provide important data about whether this treatment helps to strengthen the muscles in the eyelid and help make it easier to open the eyes.
Potential benefit to patients
This is a safe and relatively simple technology with the potential to improve ptosis in children with mitochondrial disease. The application time for the technology is short and can easily be carried out at home, with potential benefits including increased self-esteem in children. This pilot study may also provide a gateway for further research into red light therapy, with the potential to improve other potential mobility issues that these children face.
Grant information
Official study title – Can red light lift droopy eyelids in mitochondrial disease?
Lead investigator – Prof Glen Jeffery and Dr Annegret Dahlman-Noor
Medical institute – UCL Institute of Opthalmology
Year grant funding awarded – 2022/2023
Project duration – 24 months
Cost – £54,003
Status – Closed
TRANSFORM – a potential new treatment for epilepsy in children and young people with mitochondrial disease Professor Bobby McFarland and Dr Albert Lim from Newcastle University will explore if the use of a new treatment, involving the use of very low electrical current, has the potential to calm seizure activity in children and young people with mitochondrial disease.
Background
Epileptic seizures can be a prominent and debilitating symptom of mitochondrial disorders, especially in children. These seizures are often ongoing and very difficult to control. Currently the only way to manage the seizures is with multiple medications, each of which may have unpleasant side effects.
Aims of this study
Transcranial direct current stimulation is a treatment that delivers a very low current and has been shown to calm seizure activity. The technique has been used successfully in a small number of patients under special circumstances. This new study, called TRANSFORM, aims to establish whether this treatment improves seizure control enough to be offered as a new treatment option for a larger number of patients with mitochondrial disease and epilepsy.
Potential benefit to patients
If shown to be effective, this technology has the potential to become a recognised treatment for patients who experience seizures as part of their mitochondrial disease, offering an achievable, accessible option compared to more traditional methods. As well as becoming a mainstream treatment for mitochondrial patients with epilepsy, this treatment could also be expanded to help manage epilepsy in other conditions.
Further information
If you are interested in finding out more, or would like to participate, please click here or contact us:
Prof Robert McFarland at +44 191 2825225, Dr Albert Lim via [email protected] or Katrin Bangel via [email protected] or visit www.isrctn.com/ISRCTN18241112
Grant information
Official study title – TRANScranial direct current Stimulation for FOcal Refractory epilepsy in Mitochondrial disease (TRANSFORM): delayed-start, randomised, double-blinded, placebo-controlled trial
Lead investigator – Professor Bobby McFarland and Dr Albert Lim
Medical institute – Newcastle University
Year grant funding awarded – 2019/2020
Project duration – 24 months
Cost – £86,254
Status – Closed
Using a mouse model to test nucleoside supplementation for Mitochondrial Deletion and Depletion Syndromes (MDDSs) Professor Antonella Spinazzola at UCL is testing a new treatment for Mitochondrial DNA depletion and deletion syndromes (MDDSs) using a mouse model.
Background
Mitochondrial DNA depletion and deletion syndromes (MDDSs) are characterised by low levels of mitochondrial DNA (mtDNA) as well as by the build-up of damaged mtDNA molecules in affected tissues.
Often these abnormalities in mitochondrial DNA are caused by a shortage or imbalance of the building blocks of the DNA, which are known as nucleotides. Scientists believe that supplementation of these building blocks could be a promising option for treatment.
Aims of this study
This study will focus on a particular type of MDDS that is caused by mutations in the MPV17 gene. This mutation causes severe liver disease and neuromuscular damage in humans. Researchers will use a MPV17 mouse model, which has the same features of the disease as humans, to test whether nucleoside supplementation is effective in the long-term at restoring mtDNA numbers, preventing the accumulation of damaged molecules in liver and muscle and preventing and reversing the loss of mitochondrial and organ function.
Potential benefit to patients
If successful, this could lead to future trials in human patients with MPV17 mutations, as well as potentially also being extended to treat other mitochondrial DNA disorders in the future.
Grant information
Official study title – Deoxynucleoside-based treatment for mitochondrial DNA disorders
Lead investigator – Professor Antonella Spinazzola
Medical institute – University College London
Year grant funding awarded – 2021/2022
Project duration – 14 months
Cost – £ 98,747.31
Status – Closed
Supported by a generous donation by My Mito Mission
Testing a potential treatment for mitochondrial DNA disease Professor Antonella Spinazzola and colleagues at University College London (UCL) and Newcastle University are carrying out a pilot study to test a new drug in people with mitochondrial myopathy, with the aim of developing the first effective treatment in this area.
Background
The Lily Foundation is providing additional funding to support a pilot study funded by Muscular Dystrophy UK, to test a chemical that could improve muscle weakness in some patients with mitochondrial myopathy caused by mutations in the mitochondrial DNA (mtDNA). Most patients with mtDNA mutations have a mixture of both normal and mutated mtDNA in the cells of their body, and it is only when the amount of mutated mtDNA exceeds a certain level that disease symptoms appear. A chemical has been identified that is able to promote normal mtDNA but not mutated mtDNA in cells grown in the laboratory, leading to an increase in the amount of healthy mitochondria.
Aims of this study
This study aims to test a drug called 2DG in people with the most common form of mitochondrial disease, caused by a specific mutation, m.3243A>G. Researchers will investigate whether the drug can find its way to human muscle and once there, whether it has the same effect in the body as it does on cells grown in the laboratory.
This small-scale study involving a small number of participants will provide important information on optimal dosing and safety and is essential for establishing the potential benefits of the drug in preparation for a larger clinical trial.
Potential benefit to patients
It is estimated that currently there are around 5,000 patients in the UK with m.3243A>G. and if this pilot study is successful, full clinical trials can commence with more patients. As well as being a potentially effective treatment for people with the m.3243A>G mutation, this treatment also has the potential to benefit those with other mitochondrial diseases caused by mutations in the mtDNA.
Grant information
Official study title – An Experimental Medicine Study To Assess The Safety And Efficacy Of 2-Deoxyglucose In Patients With m.3243G Mutant Mitochondrial DNA
Lead investigator – Professor Antonella Spinazzola
Medical institute – University College London
Year grant funding awarded – 2019/2020
Project duration – 24 months
Cost – £ 30,000
Status – Closed
Testing gene therapy for a rare mitochondrial disease (MNGIE) Dr Jelle van den Ameele from University of Cambridge, alongside Dr Seth Cheetham from University of Queensland and Dr Ramon Marti from Vall d’Hebron Research Institute, are testing a new, safer treatment for MNGIE using gene therapy on mice.
Background
Mitochondrial NeuroGastroIntestinal Encephalomyopathy (MNGIE) is a very rare form of mitochondrial disease caused by mutations in the TYMP gene, which leads to a build-up of harmful substances in the body. This build-up damages the mitochondria, leading to severe problems with the digestive system, muscle weakness and nerve issues. Current treatments involve risky procedures like liver or stem cell transplants, which are not always successful and can come with complications.
Aims of this study
This project aims to create and test a new, safer and cheaper treatment for MNGIE using mRNA technology. mRNA contains instructions to make proteins that are missing or not working properly in a patient’s body. They can be injected into patients. The specific goals of this project are:
- To produce and test the mRNA treatment in liver cells grown in the lab.
- To study how well the mRNA treatment works and how it is delivered in mice with MNGIE.
- To measure how effective the mRNA treatment is in improving the condition of mice with MNGIE.
Potential benefit to patients
This new mRNA-based treatment could provide a safer and more affordable option for people with MNGIE. Unlike current treatments, it can be given multiple times without causing severe immune reactions or other side effects. This therapy has the potential to significantly improve symptoms and halt disease progression, offering hope to patients who cannot undergo existing treatments or while they wait for a transplant.
Grant information
Official study title – Proof-of-concept study of mRNA-based gene therapy for Mitochondrial Neuro-Gastro-Intestinal Encephalomyopathy (MNGIE)
Lead investigator – Dr Jelle van den Ameele
Medical institute – University of Cambridge
Year grant funding awarded – 2023/2024
Project duration – 1 year
Cost – £77,951
Status – Closed
Supported by a generous donation by My Mito Mission
Genome editing to treat mitochondrial DNA disease Dr Michal Minczuk’s lab aims to develop a gene therapy technique to remove faulty mitochondrial DNA (mtDNA) in an animal model of mitochondrial disease.
Background
Mitochondrial gene editing is a promising therapeutic technology in the field of mitochondrial disease, with the potential to be used for a wide variety of diseases caused by mutations to the mitochondrial genome. The technology is currently being optimised by pre-clinical research at the Minczuk lab and in the future could lead to the development of cures for a wide variety of mitochondrial disease by altering the genetic makeup of dysfunctional mitochondria.
Aims of this study
The study aims to develop a gene therapy technique to remove faulty mitochondrial DNA (mtDNA) in an animal model of mitochondrial disease. The technique makes use of an engineered enzyme that is directed to the faulty mtDNA, where it acts like a pair of scissors to cut the mtDNA. This causes the faulty mtDNA to be removed from the cell, allowing the healthy mtDNA to take its place. The researchers have shown previously that this works in heart tissue in a mouse model of mitochondrial disease, so the next step is to test it in other tissues often affected in mitochondrial disease, including brain and muscle.
Potential benefit to patients
Researchers believe that removing faulty mtDNA in this way could lead to an improvement in the symptoms seen in patients with mitochondrial disease. It is hoped that the study will provide the vital pre-clinical data on efficacy and safety required to take the next steps towards using this strategy to treat patients.
Further information – you can read more about this study here and here.
Grant information
Official study title – In vivo mitochondrial genome editing for heteroplasmic mitochondrial disease
Lead investigator – Dr Michal Minczuk
Medical institute – Mitochondrial Clinical Genetics Group, Cambridge School of Clinical Medicine
Year grant funding awarded – 2018/2019
Project duration – 48 months
Cost – £ 90,281
Status – Ongoing
Supported by a generous donation from My Mito Mission
Neuropsychiatric and brain imaging phenotyping of primary mitochondrial diseases Dr Alessandro Colasanti’s research project aims to understand how the involvement of mitochondria in the brain contributes to psychological symptoms of mitochondrial disease
Background
Involvement of the brain in mitochondrial disease is common. As well as seizures and stroke like episodes, neurological consequences can often include neuropsychiatric symptoms such as anxiety, agitation, emotional dysregulation, depression and/or altered sensory perception. There has been no systematic study of these clinical aspects of mitochondrial disease, which are often missed and can be greatly disabling and distressing for patients.
Aims of this study
This study is being jointly funded with Mito2i and aims to collect detailed information on neuropsychiatric symptoms and brain imaging biomarkers in adult patients with mitochondrial disease. It will also use MRI to look closely at brain images of people with mitochondrial disease.
Potential benefit to patients
Findings from this project will help to guide better clinical care for patients, and the data collected will be invaluable for future clinical trials of new drugs that are aimed at restoring mitochondrial function in the brain.
Further information
If you would like to be involved in this study, or find our more, please contact: Amy Kartar ([email protected]) or Dr Alessandro Colasanti ([email protected])
Grant information
Official study title – Neuropsychiatric and Brain Imaging Phenotyping of primary Mitochondrial Diseases
Lead investigator – Dr Alessandro Colasanti
Medical institute – University of Sussex in collaboration with University College London
Year grant funding awarded – 2020/2021
Project duration – 18 months
Cost – £79,834
Co-funded by Mito 2i and supported by a generous donation from My Mito Mission
The EMERALD study – developing a new treatment for hearing loss Professor Gráinne Gorman and Dr Renae Stefanetti from Newcastle University will test whether a new remote microphone can enhance the use of standard hearing aids in patients with mitochondrial disease.
Background
Hearing loss is a common problem related to mitochondrial disease, affecting up to one in eight patients. Problems with hearing can have a major impact on communication, social participation and wellbeing. The standard treatment for mild to moderate hearing loss in patients with mitochondrial disease is hearing aids; however, these are often ineffective as they make sounds louder, but not clearer. This can lead to patients feeling dissatisfied with traditional hearing aids, and they may choose not to wear them.
Aims of this study
The EMERALD study will test a new type of technology, called a remote microphone Assistive Listening Device (ALD) which can enhance the use of traditional hearing aids by making it easier to understand speech, especially where there is a lot of background noise. The study will test whether using an ALD can improve hearing and communication and improve well-being and social participation. The study will also assess levels of patient satisfaction and whether the new device is well-tolerated by patients.
Potential benefit to patients
If shown to be of benefit, this new ALD technology has the potential to improve symptoms of hearing loss in patients with mito, resulting in easier communication and improved quality of life.
Grant information
Official study title – EMERALD Pilot study: Evaluating the Tolerability and Efficacy of a Remote Microphone (Assisted Listening Device) in Adult Patients with Mitochondrial Disease
Lead investigator – Professor Gráinne Gorman and Dr Renae Stefanetti
Medical institute – Newcastle University
Year grant funding awarded – 2021/2022
Project duration – 21 months
Cost – £79,563
Supported by a generous donation by My Mito Mission
Can increasing rates of mitochondrial recycling help reduce the risk of cardiomyopathy in mitochondrial disease? Professor Jo Poulton’s lab-based research uses cells to test whether increasing mitochondrial recycling could help reduce the risk of cardiomyopathy (enlargement of the heart muscle) in patients with m.4300A>G mutations.
Background
Mitochondrial diseases can affect any part of the body but tend to affect organs that require a lot of energy to function. Patients with mitochondrial disease caused by the genetic mutation ‘m.4300A>G’ often develop serious problems with their heart muscle (cardiomyopathy), which can be fatal unless they have a heart transplant. Previous studies have shown that increasing the rate of mitochondrial recycling through a process called mitophagy could potentially benefit cells with mitochondrial DNA mutations.
Aims of this study
This study aims to test whether a drug known to increase mitophagy could benefit this group of patients by reducing the risk of developing cardiomyopathy. The study will also test whether increasing mitophagy rates could be beneficial in other types of mitochondrial disease thus broadening the scope of the research.
Potential benefit to patients
This drug is already widely used for another medical condition so if successful, could be a candidate for fast track to mitochondrial patients and has the potential to treat individuals before symptoms present which would greatly reduce disease burden.
Grant information
Official study title – An investigation into a driver of mitophagy in personalised treatment for mitochondrial disease
Lead investigator – Professor Jo Poulton
Medical institute – Oxford University
Year grant funding awarded – 2021/2022
Project duration – 12 months
Cost – £63,143
Improving understanding of POLG disease Dr Nicola Lax’s project is jointly funded by The POLG Foundation and The Lily Foundation, and aims to perform an extensive literature review to develop greater understanding of POLG-related mitochondrial disease.
Background
Genetic mistakes in a gene called ‘POLG’ are associated with mitochondrial diseases in which people typically have a reduced amount or quality of mitochondrial DNA (mtDNA). This depletion of mtDNA can affect energy generation in affected tissues and can cause a spectrum of POLG-related mitochondrial disorders which present with a wide range of debilitating symptoms.
Aims of this study
The aim of the project is to perform an extensive review of the published literature to provide a deeper understanding of particular aspects of POLG-related disease.
Potential benefit to patients
Developing a greater understanding of POLG disease will lead to benefits for patients, including the identification of potential therapies and the generation of consensus guidelines for the clinical management of POLG disease.
Grant information
Official study title – A Systematic Review of Animal and Cell Models of POLG Disease
Lead investigator – Dr Nicola Lax, Professor Gráinne Gorman & Professor Robert McFarland
Medical institute – Wellcome Centre for Mitochondrial Research, Newcastle University
Year grant funding awarded – 2020-2021
Project duration – 12 months
Cost – £36,000
Status – Complete awaiting publication
Part funded by The POLG Foundation
Using animal models to test new treatments for Mitochondrial DNA Depletion Syndrome Professor Rita Horváth and the team at Cambridge University are developing new Zebrafish models to test potential treatments for MDDS.
Background
Mitochondrial DNA Depletion Syndrome (MDDS) is a mitochondrial disease that is characterised by low levels of mitochondrial DNA (mtDNA) in tissues that require lots of energy, such as the skeletal tissue, liver and central nervous system.
Aims of this study
This study aims to develop animal (Zebrafish) models which have the same disease features as humans, and then use these to test potential new treatments for MDDS. One particular treatment is nucleoside supplementation, which aims to rebalance levels of mtDNA in affected tissues by providing the chemical ‘building blocks’ needed to allow the mtDNA to work effectively.
Potential benefit to patients
There is currently no cure for MDDS, and this research could be an important step in developing a treatment in humans that improves some of the clinical symptoms associated with the condition.
Grant information
Official study title – Testing new treatment options in zebrafish models of mitochondrial DNA depletion syndromes
Lead investigator – Professor Rita Horváth
Medical institute – Cambridge University
Year grant funding awarded – 2018/2019
Project duration – 24 months
Cost – £62,432
Status – Complete
Developing guidelines for the assessment of balance disturbances in mitochondrial disease Dr Rob Pitceathly’s team at UCL will test new guidelines for the assessment of balance disorders in people with mitochondrial disease.
Background
The diagnosis of the cause of dizziness or unsteadiness can be complicated in people with mitochondrial disease. Different parts of the body can affect how well we balance, and mitochondrial disease can affect these different parts. It can therefore be difficult for medical professionals to identify the cause of these balance problems for each person.
A recent study found problems with the inner ear system were a common cause of dizziness and unsteadiness. This is the first time this has been shown in a large group of people with mitochondrial disease. Patients with mitochondrial disease could therefore have an important opportunity to access targeted physiotherapy to improve symptoms and quality of life.
Aims of this study
The study will support the validation of assessment guidelines that help understand the cause of balance disturbance, which will allow for earlier identification and improved management of these disabling symptoms. The guidelines will be tested with 100 patients to ensure it is reliable, with the overall aim to be used more widely to help people with mitochondrial disease.
Potential benefit to patients
This framework could help doctors and physiotherapists identify the cause of balance problems and allow quick access to rehabilitation. By developing and testing this framework it is hoped that people with dizziness and balance problems will be able to access targeted therapy intervention more easily, which will help to reduce symptoms, improve balance and safety, reduce falls and improve quality of life.
Grant information
Official study title – Validation of an assessment framework to improve the diagnosis and management of vestibular dysfunction in mitochondrial disease
Lead investigator – Dr Rob Pitceathly
Medical institute – University College London
Year grant funding awarded – 2018/2019
Project duration – 24 months
Cost – £84,742
Status – Complete
Treatments for RRM2B Depletion Syndrome & Natural History Study Dr Gorman and the team at Newcastle University aim to develop a greater understanding of RRM2B-related mitochondrial disease whilst also developing new drugs for the condition.
Background
Clinical trials for any kind of mitochondrial disease can be greatly improved by ensuring that patients are ‘trial ready’. Part of this process involves studying the clinical features of patients in detail, which allows the development of meaningful outcome measures that can be used to determine if a treatment is having a clinical benefit.
Aims of this study
The Lily Foundation is funding a study that aims to collect this information for patients with mitochondrial disease caused by a genetic fault in the gene RRM2B. This research project also aims to develop new drugs that could potentially be used to treat patients with this type of mitochondrial disease and to test these drugs in cell models derived from patient skin cells.
Potential benefit to patients
Gathering this patient data will be vital in developing new natural history data for this rare genetic disorder and could serve as a comparator for future drug trials. Having a greater knowledge about the most burdensome symptoms and difficulties faced by patients with mutations in the RRM2B gene will also help future service provisions prioritise areas of care for these patients.
Grant information
Official study title – Towards devising a therapeutic strategy for patients with recessive RRM2B-related mitochondrial disease
Lead investigator – Grainne Gorman
Medical institute – Newcastle University
Year grant funding awarded – 2017/2018
Project duration – 18 months
Cost – £144,166
Co-funded by Mito Foundation
Enzyme Replacement Therapy for MNGIE Lily funding aims to contribute to Dr Bax’s research into a new therapy for MNGIE, by finding markers in the blood that can help measure the effectiveness of treatment.
Background
Mitochondrial neurogastrointestinal encephalopathy (MNGIE) is a rare mitochondrial condition that is caused when a gene fault affects the enzyme responsible for removing certain biological molecules from the body. When the enzyme doesn’t work properly, the molecules begin to build up which causes damage to the mitochondria.
A team based at University of London are due to begin a clinical trial to test a therapy for MNGIE where the missing enzyme is added to the patient’s own red blood cells, resulting in the unwanted biological molecules being removed from the blood.
Aims of this study
As part of the clinical trial, The Lily Foundation is funding research to test whether a biomarker found in the blood can accurately measure the effectiveness of the new treatment.
Potential benefit to patients
This study will help improve overall understanding about the clinical course of MNGIE, leading to improved diagnosis and management. In addition, finding biomarkers that can accurately measure the effectiveness of new therapies will be vital in getting new drugs for mitochondrial diseases approved.
Grant information
Official study title – Enzyme Replacement Therapy for MNGIE (Mitochondrial Neurogastrointestinal Encephalomyopathy) – Biomarker Development
Lead investigator – Dr Bridget Bax
Medical institute – St George’s, University of London
Year grant funding awarded – 2017/2018
Project duration – 24 months
Cost – £36,796
Status – Complete
Preventing Mitochondrial Cardiomyopathy Dr Chris Carroll at St George’s is using a mouse model to test a treatment for enlargement of the heart, a common symptom in mitochondrial diseases.
Background
An unhealthy enlargement of the heart (known medically as hypertrophic cardiomyopathy) is a common symptom in mitochondrial diseases that can eventually lead to heart failure and premature death. Previous research has identified a specific set of chemical reactions (known as a metabolic pathway) that may be more active in patients with mitochondrial disease and are driving the enlargement of the heart.
Aims of this study
This study will test whether a drug that is known to reduce the activity of this metabolic pathway can be used to prevent or slow down disease progression in a mouse model of mitochondrial heart disease.
Potential benefit to patients
This research could be of huge benefit to many patients with mitochondrial disease, which if successfully translated to humans has the potential to increase life-expectancy in those with the disease.
Grant information
Official study title – Investigating the pathways involved in mitochondrial cardiomyopathy
Lead investigator – Dr Christopher Carroll
Medical institute – St George’s, University of London
Year grant funding awarded – 2017/2018
Project duration – 18 months
Cost – £53,000
Status – Complete
Maximising the potential of Nicotinamide Riboside as a possible treatment for mitochondrial disease Dr Rob Pitceathly will investigate the potential to increase uptake of Nicotinamide Riboside (vitamin B3) in the bloodstream of patients with mitochondrial disease, increasing the number of healthy mitochondria and reducing symptoms.
Background
Nicotinamide Riboside (NR) is a form of vitamin B3 that has been shown to increase the number of healthy mitochondria in animal models of Mitochondrial Disease. This could benefit patients by reducing some of the symptoms of Mitochondrial Disease. However, when taken in its current form, only low levels of NR reach the bloodstream meaning that its effects are limited.
Aims of this study
This Lily-funded research aims to improve the uptake of Nicotinamide Riboside into the bloodstream and maximise the positive effects on mitochondria.
Potential benefit to patients
If successful, this research could lead to clinical trials of NR as a potential treatment for patients affected by mitochondrial disease.
Grant information
Official study title – Development of Novel Nicotinamide Ribosome Formulations to treat Mitochondrial Diseases
Lead investigator – Dr Rob Pitceathly
Medical institute – University College London
Year grant funding awarded – 2016/2017
Project duration – 15 months
Cost – £83,686
Status – Complete
TRID therapy for mitochondrial diseases Professor Rahman will investigate whether a novel treatment, called ‘Translational Read-through Therapy’, has the potential to become an effective therapy for mitochondrial diseases.
Background
Mitochondrial diseases are caused by mutations in the genetic code found within our cells. Some of these mutations change the genetic code in such a way that the cell is unable to produce the protein it needs for mitochondria to work. A certain type of drug, known as ‘translational read-through inducing drugs’ (TRIDs) may enable the cells to ignore the gene mutation so that protein production can still occur.
Aims of this study
The Lily Foundation is funding research to test the effectiveness of TRIDs on cells taken from patients with mitochondrial disease caused by various gene mutations.
Potential benefit to patients
If effective, these drugs could potentially be used to treat a wide range of mitochondrial diseases and benefit many patients.
Grant information
Official study title – Translational Read-Through Therapy: A Novel Pharmacological Strategy for Mitochondrial Disease
Lead investigator – Prof Shamima Rahman
Medical institute – UCL Great Ormond Street Institute of Child Health (ICH)
Year grant funding awarded – 2016/2017
Project duration – 24 months
Cost – £50,000
Status – Complete
Can a low residue diet improve gut symptoms in patients with mitochondrial disease? Dr Gorman and the team at Newcastle University will test the effectiveness and acceptability of a low residue diet in reducing gut symptoms in patients with mitochondrial disease.
Background
More than 60% of patients with mitochondrial disease experience gut symptoms that can have a significant impact on their health and quality of life. These symptoms include abdominal pain, bloating and severe constipation, and result from the slow movement of food and stool through the gut due to malfunctioning mitochondria.
Aims of this study
This study aims to assess whether a low residue diet (LRD) is well tolerated and able to improve gut symptoms in patients with mitochondrial disease. A low residue diet involves limiting fibre intake and certain foods that stimulate bowel contractions, making it easier for the gut to digest food and easing the passage of stools through the bowel.
Potential benefit to patients
This study will provide useful information as to whether a low residue diet is acceptable and improves gut symptoms in patients with mitochondrial disease. If successful, we hope the findings will support funding a larger trial to investigate the benefits of the diet.
Grant information
Official study title – Phase II feasibility study of the efficacy and acceptability of a low residue diet in adult patients with mitochondrial disease
Lead investigator – Grainne Gorman
Medical institute – Newcastle University
Year grant funding awarded – 2016/2017
Project duration – 12 months
Cost – £78,783
Status – Complete
You can read the results from this study here.