Mitochondrial Diseases

Posted 11 months ago by Wales Gene Park

Mitochondria are tiny cell structures that play a critical role in the production of energy by the cell. When these tiny energy producing cell structures malfunction, it may result in chronic illnesses known as mitochondrial diseases. It is estimated that mitochondrial disease can affect up to 15,000 adults (and a similar numbers of children) in the UK. Mitochondrial diseases are rare, inherited conditions where muscle symptoms such as muscle weakness, tiredness and pain are extremely common and often draining. The study has been designed with the help of patients and carers who identified muscle symptoms to be the most important target for any new drug treatments. We plan to test a drug (acipimox) which has previously been used to treat high cholesterol and improve diabetic control. The drug has also been shown to boost production of cell energy by muscle cells and it is this role that we wish to...

 Mitochondrial Diseases /  England

Posted 11 months ago by Wales Gene Park

The Investigator proposes to record the fetal and postnatal development of children conceived using Mitochondrial Donation (MD) and to perform expert assessment of development at 18 months (corrected for gestational age) using the internationally validated Bayley-III developmental assessment tool. To record the fetal and postnatal development of children conceived using Mitochondrial Donation and to perform internationally validated Bayley-III developmental assessment tool at 18 months (corrected for gestational age). The null hypothesis for this research is that children born following the use of Mitochondrial Donation (IVF) techniques have normal neurodevelopment developmental outcomes at 18 months.

 Mitochondrial Diseases /  England


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