Deep phenotyping of childhood paroxysmal events
Research type
Research Study
Full title
Effect of paroxysmal events in early onset neurological disease on cerebral tissue oxygenation & metabolism: a NIRS pilot study
IRAS ID
232119
Contact name
J Helen Cross
Contact email
Sponsor organisation
GREAT ORMOND STREET HOSPITAL FOR CHILDREN NHS FOUNDATION TRUST
Duration of Study in the UK
0 years, 11 months, 31 days
Research summary
The infantile epilepsies and alternating hemiplegia of childhood (AHC) are rare progressive childhood disorders sharing an often-poor prognosis with regard to long-term neurological function and development. Both conditions are characterized by frequent recurring paroxysmal events, epileptic seizures in infantile epilepsy and hemiplegic, plegic and dystonic episodes as well as epileptic seizures in AHC. It is assumed that these paroxysmal events play a role in the development of the long-term impairment of these patients. However there is little evidence so far proving this assumption. A possible mechanism could be energy depletion in the brain cells during the paroxysmal events.
Non-invasive in-vivo markers of metabolism have not been available until recently. However recent advances in broadband-Near-infrared spectroscopy (NIRS) have made such measurements possible. We will perform the first broadband-NIRS measurements with simultaneous EEG in this patient group to measure changes in hemodynamics (oxygenated and deoxygenated hemoglobin (Δ[HbO2 ] and Δ[HbR]) and energetics (the oxidation state of cytochrome-c-oxidase (Δ[oxCCO], an enzyme involved in cell metabolism) in the brain before and during paroxysmal events.
If broadband-NIRS allows us to establish an unusual metabolic response of energy depletion during paroxysmal events in our children this could be the mechanism paroxysmal events drive brain injury. Further studies would then be initiated powered to determine whether this method can be used as a reliable biomarker of the events' severity, children' neurodevelopment prognosis and therefore as a useful marker guide therapeutic intervention.
REC name
London - Bloomsbury Research Ethics Committee
REC reference
17/LO/1402
Date of REC Opinion
30 Oct 2017
REC opinion
Further Information Favourable Opinion