Healthy volunteers and healthy patients with known specific genotypes Other
Conditions
Interventions
Current interventions as of 13/08/2025:
This is a single-centre, non-randomised, prospective, physiological imaging study including the following imaging techniques:
• hyperpolarised 13C-MRSI
• DMI
Sponsors
Cambridge University Hospitals NHS Foundation Trust
Eligibility
Sex/Gender
All
Age
18 Years to 100 Years
Inclusion criteria
Inclusion criteria: Inclusion criteria for healthy volunteers: 1. Over 18 years old 2. Able to and provide written informed consent to participate 3. If female, postmenopausal or if women of childbearing potential (WOCBP) using a suitable form of contraception 4. Capable of undergoing a minimum of one study visit Inclusion criteria for healthy patients at risk for hereditary metabolic disease: 1. Over 18 years old 2. Able to and provide written informed consent to participate 3. If female, postmenopausal or if of childbearing potential (WOCBP) using a suitable form of contraception 4. Capable of undergoing a minimum of one study visit 5. Carrying a pathogenic variant in the genes for succinate dehydrogenase and undergoing asymptomatic surveillance but without tumour manifestation
Exclusion criteria
Exclusion criteria: The presence of any of the following will preclude participation as determined by the delegated investigator: 1. Contraindication or inability to tolerate MRI 2. Pregnant or actively breastfeeding woman 3. If using an intrauterine contraceptive device (IUCD) as a method of contraception the device should be MRI-safe at 3 T (researcher to confirm) 4. Clinically significant cardiac, pulmonary or neurological diseases as determined by the investigators 5. Laboratory abnormalities that may impact the study results although no screening will be required for entry into the study. 6. Any other significant medical or psychiatric history rendering the subject ineligible as deemed by the investigators
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Current primary outcome measure as of 13/08/2025: 1. 13C. Spatial maps of area under the curve (AUC) timecourse sums of signals from hyperpolarized pyruvate, lactate, and any other metabolites detected, and ratios between these metabolite AUCs. Also estimates of the kinetic rate constants of conversion between injected tracer pyruvate and the metabolites formed (lactate, other). The timecourse typically covers approximately 1 minute beginning approximately 16 seconds after the start of injection. 2. DMI (oral and IV). Spectral peak intensity ratios between 2H-water, 2H-glucose, 2H-glutamate (brain only), 2H-lactate and lipids. These will be either in spatial maps derived from 3D spectroscopic imaging, or in unlocalized spectra from the whole sensitive volume of the coil. 3. 23Na. Maps of estimated millimolar sodium content over the 3D volume of tissue investigated. Optionally also maps of the ratio of intracellular-weighted signal to total 23Na signal. 4. Demonstrate feasibility of DMI following 2H-glucose IV administration. _____ Previous primary outcome measure: Using MRI imaging: 1. 13C. Spatial maps of area under the curve (AUC) timecourse sums of signals from hyperpolarized pyruvate, lactate, and any other metabolites detected, and ratios between these metabolite AUCs. Also estimates of the kinetic rate constants of conversion between injected tracer pyruvate and the metabolites formed (lactate, other). The timecourse typically covers approximately 1 minute beginning approximately 16 seconds after the start of injection. 2. DMI. Spectral peak intensity ratios between deuterated water, glucose, glutamate (brain only), lactate and lipids. These will be either in spatial maps derived from 3D spectroscopic imaging, or in unlocalized spectra from the whole sensitive volume of the coil. 3. Sodium. Maps of estimated millimolar sodium content over the 3D volume of tissue investigated. Optionally also maps of the ratio of intracellular-weighted signal to total sodi | — |
Secondary
| Measure | Time frame |
|---|---|
| There are no secondary outcome measures | — |
Countries
England, United Kingdom
Contacts
Public ContactMarta Wylot
Outcome results
None listed