Research

The Lily Foundation – Lily Funded Research

www.thelilyfoundation.org.uk/lily-research/research-funded-date

Improving lives today, saving lives tomorrow. Supporting medical research into mitochondrial disease is a fundamental aspect of our work, not only because it could potentially lead to a cure but also because it helps to improve lives now. Lily-funded research projects have already resulted in faster, less invasive patient diagnosis and helped families affected by mitochondrial illness to have healthy babies. Several promising avenues for new treatments are also currently being explored.

The Lily Foundation Patient Registry

www.thelilyfoundation.org.uk/find-support/UK-mito-patient-registry

The UK Mito Patient Registry (UKMPR) is a powerful tool that brings real benefits to the mito community, and gives patients a voice in research and care provision. By signing up, you will be helping the search for effective treatments and a cure for mito.

Please sign up for your personal Lily Account. Once your account has been created you will then be able to access the UK Mito Patient Registry via your personal dashboard.

The Lily Foundation – UK Trials & Research Studies

www.thelilyfoundation.org.uk/lily-research/uk-trials-research-studies

The Lily Foundation are a key link between families and scientists.

Researchers from all around the world work closely with us, telling us about their research plans, asking for our research priorities, and our input into their study design. Because of this relationship, we are able to ensure our Lily Families are aware of relevant study recruitment so they have the first opportunity to be involved if they wish.

NHS Rare Mitochondrial Disorders Service Mitochondrial Patient Cohort

mitochondrialdisease.nhs.uk/research/events

The aim of this research is to establish a database (or ‘cohort’), which is a computer record about patients with mitochondrial disease. Having information on patients with mitochondrial disease allows us to study in detail mitochondrial disease progression with time and identify eligible patients from all over the UK to take part in research studies or drug trials in the future. We collect information such as a patient’s genetic mutation, clinical features and various investigation results. The Mitochondrial Research Groups in Newcastle, London and Oxford work together with support from the Medical Research Council to collect this information. This study aims to benefit patients living with mitochondrial disease. We may make contact with you on behalf of researchers running a research project in which you may be able to participate. Such research projects could include new treatments or drug trials.

Rudy Study

rudystudy.org

Rudy is a study in Rare diseases. Headed up by a research team at the University of Oxford, Rudy aims to transform clinical care for participants through patient driven research.

The Wellcome Centre for Mitochondrial Research

www.newcastle-mitochondria.com

The Wellcome Trust Centre for Mitochondrial Research was established in May 2012 to integrate basic and clinical mitochondrial disease research, train exceptional young researchers and undertake public and policy engagement. It is based within the Medical School of Newcastle University.

We have very close links to the NHS Highly Specialised NHS Service for Rare Mitochondrial Disorders of Adults and Children. This clinical service based in Newcastle provides care for patients throughout the UK both in terms of diagnosis and management.

IMP – International Mito Patients

www.mitopatients.org/research/general

This site contains an excellent research-focused section covering mito research in general, research publications, the IMP Scientific Committee, studies around the world and more.

The Lily Foundation – Research Around the World

www.thelilyfoundation.org.uk/get-informed/what-research-going-world

This is a very exciting time for research into mitochondrial disease. Growing awareness about the condition and improved diagnosis have resulted in more global research centres undertaking valuable work on potential drug treatments.

Scientists have linked mitochondrial dysfunction with other serious diseases including cancer, diabetes, Alzheimer’s and stroke, making this an even more vital field of study.

While there have been several exciting breakthroughs in recent years, many studies are still a long way from clinical trials. The information provided here focuses on the most promising looking treatments, which we hope will be of benefit to patients in the near future.

United Mitochondrial Disease Foundation (USA) Mitochondrial Disease Community Registry (MDCR)

www.umdf.org/registry

The mitochondrial disease community’s “privacy assured” registry is the best chance we have to collect information that will facilitate the diagnosis and treatment of mitochondrial disease, as well as to discover ways to manage the symptoms and improve the quality of life of those individuals who are already affected by it. We need you to participate by providing and sharing the information that will enable the development of treatments and cures for mitochondrial disease.

Genomics England

www.genomicsengland.co.uk

Genomics England was set up in July 2013 as a company fully owned by the UK Department of Health to deliver the 100,000 Genomes Project.

In October 2018, the Health Secretary Matt Hancock announced the expansion of the 100,000 Genomes Project to see 1 million whole genomes sequenced by the NHS and UK Biobank in five years and an ambitious vision for genomic medicine in the NHS – with plans to sequence 5 million genomes over the next five years.

MyGene2

mygene2.org/MyGene2

MyGene2 is a portal through which families with rare genetic conditions who are interested in sharing their health and genetic information can connect with other families, clinicians, and researchers. The genetic cause of most rare conditions is unknown and as a result, most families who undergo exome sequencing or whole genome sequencing do not receive a diagnosis. By sharing information through MyGene2, a family can help and even participate in the discovery of new genetic conditions and the genes underlying these conditions.

EU Clinical Trials Register

www.clinicaltrialsregister.eu/ctr-search/search

The EU Clinical Trials Register contains information on interventional clinical trials on medicines conducted in the European Union (EU), or the European Economic Area (EEA) which started after 1 May 2004.

Clinical trials conducted outside the EU/EEA are included if:

• they form part of a paediatric investigation plan (PIP), or:
• they are sponsored by a marketing authorisation holder, and involve the use of a medicine in the paediatric population as part of an EU marketing authorisation.

The Register also provides information about older paediatric trials covered by an EU marketing authorisation.

NIH US National Library of Medicine
ClinicalTrials gov

clinicaltrials.gov/ct2/home

ClinicalTrials.gov is a Web-based resource that provides patients, their family members, health care professionals, researchers, and the public with easy access to information on publicly and privately supported clinical studies on a wide range of diseases and conditions. The Web site is maintained by the National Library of Medicine (NLM) at the National Institutes of Health (NIH). Information on ClinicalTrials.gov is provided and updated by the sponsor or principal investigator of the clinical study. Studies are generally submitted to the Web site (that is, registered) when they begin, and the information on the site is updated throughout the study. In some cases, results of the study are submitted after the study ends. This Web site and database of clinical studies is commonly referred to as a “registry and results database.”