Mitochondrial and Microbiota Relationship

Launched by NEWCASTLE UNIVERSITY · Jul 7, 2017

Keywords

ClinConnect Summary

Background Mitochondrial diseases are an important group of inherited neurometabolic disorders that invariably exhibit multi-organ involvement, are relentlessly progressive, and result in significant morbidity and mortality. They may manifest as discrete clinical syndromes such as mitochondrial encephalomyopathy, lactic acidosis, and stroke like episodes (MELAS), chronic and progressive external ophthalmoplegia (CPEO), and maternally inherited deafness and diabetes (MIDD), or more commonly with a wide overlapping spectrum of clinical features, including hypertrophic cardiomyopathy and gastr...

Gender

ALL

Eligibility criteria

• Inclusion Criteria:
• • Mitochondrial Patients
• • Male and Females \>18 years at the time of screening
• • Patients must have proven genetic disease (confirmed by assessment of heteroplasmy in blood and urine samples) of the m.3243 A\>G mutation.
• • Capacity to provide informed consent taken before any study related activities.
• • Ability and willingness to adhere to the protocol, including all appointments.
• • Ability to read and converse in English.
• • Healthy Controls
• • Male and Females \>18 years at the time of screening
• • Capacity to provide informed consent taken before any study related activities.
• • Ability and willingness to adhere to the protocol, including all appointments.
• • Ability to read and converse in English.
• Exclusion Criteria:
• • Previous history of contraindicated conditions including stroke, brain lesion(s) or tumour.
• • Abnormal clinical results as determined by physician.
• • Patient without capacity to provide informed consent.
• • Patient's unwillingness to adhere to the protocol, including all appointments.
• • Language barriers preventing patients from reading and conversing in English.