Clinical Trial Comparing Two Non-Surgical Treatments for Severe Blepharoptosis
BlepharoptosisPtosis5 moreThis clinical trial will evaluate two non-surgical devices designed to improve eye lid opening for patients with severe Blepharoptosis (incomplete opening of the eyelids).
The KHENEREXT Study
Mitochondrial DiseasesMitochondrial DNA tRNALeu(UUR) m.3243A<G Mutation4 moreThis is an open-label, multi-centre study in subjects with a genetically confirmed mitochondrial deoxyribonucleic acid (DNA) transfer ribonucleic acid (tRNA)Leu(UUR) m.3243A>G mutation who completed study KH176-202. In the KH176-203 study subjects will be receiving KH176 100 mg BID or KH176 50 mg bid in die (BID) (as determined by the investigator based on safety / tolerability considerations) for a year, thereby ensuring continued treatment with KH176 after study KH176-202. A final follow-up visit is scheduled 4 weeks after the intake of the last dose of study medication for patients not rolling over into the compassionate use program. Primary safety data and secondary efficacy (endpoint) data will be monitored and reviewed every three months by an independent Data Safety Monitoring Board (DSMB) to evaluate potential risks and benefits.
Genomic Profiling of Mitochondrial Disease - Imaging Analysis for Precise Mitochondrial Medicine...
Mitochondrial MyopathiesMitochondrial DNA Mutation3 moreThis study is an observational longitudinal study involving the use of MRIs and video recordings taken at home of patients completing basic tasks. Once consent is obtained, subjects will be asked to schedule an appointment with radiology to undergo the listed MRIs of the heart and/or muscle. Subjects will also be given instructions on how to use the video recording app on their personal devices, or study provided device. The subjects will be followed regularly over the course of two years, submitting video recordings of their movements and reporting to Mayo Clinic for MRIs as scheduled.
Nicotinamide Riboside and Mitochondrial Biogenesis
Mitochondrial DiseasesMitochondrial Myopathies6 moreMitochondria are important parts of the cell that are responsible for producing energy. The amount of energy they produce depends on how much energy the body needs to function and this energy production can be severely impaired in people with mitochondrial disease. Symptoms of mitochondrial disease vary widely but usually involve the brain, nerves and muscles, as these are tissues that need a lot of energy. Mitochondrial disorders affect 1 in 5000 of the UK population and there is currently no cure. Some scientists think that increasing the number of mitochondria in the body (mitochondrial biogenesis) might be an effective treatment for the symptoms of mitochondrial disease. Studies carried out in mice have shown that a type of B-vitamin called Nicotinamide Riboside (NR) is able to increase the number of mitochondria, leading to increased energy and a reduction in the symptoms of mitochondrial disease. The aim of this study is to investigate if the same B vitamin, Nicotinamide Riboside, can increase energy production and reduce symptoms in humans with mitochondrial disease. The study will consist of two parts: Part 1: Participants will be given a single oral dose of Nicotinamide Riboside and the levels of NR in their bloodstream will be measured at regular intervals. This will involve a single overnight stay and simple blood tests. Part 2: This requires 6 separate visits from each participant. Each participant will undergo a series of standard tests including a muscle biopsy and an MRI scan, then they will take a course of Nicotinamide Riboside (twice daily for 4 weeks). After 4 weeks of treatment, the participants will undergo the same tests again to see if there have been any changes in response to the treatment.
MRI Study - Chronic Progressive External Ophthalmoplegia
Chronic Progressive External OphthalmoplegiaThe purpose of this study is to investigate the fraction of fat on a MRI scan of lower bag muscles, thighs and calves in patients with the mitochondrial disease chronic progressive external ophthalmoplegia (CPEO). Additionally an investigation of the volume of the eye muscles will be done and compared to the patient's clinical presentation of ptosis and ophthalmoplegia.