None listed
Conditions
Brief summary
Familial hypercholesterolaemia (FH) is the most common and serious cause of inherited high cholesterol and untreated leads to 50% of male and 20% of female patients suffering a fatal or non-fatal heart attack by age 50 years. Most individuals with FH are unaware they have the condition. The high prevalence of FH (1 in 250), high rates of undiagnosed children and fact that heart attacks in early adult life can now be prevented with appropriate management in childhood, means that new approaches to detection are required. Universal screening of children for FH at age 1-2 years, by measuring a total cholesterol level at the same time as a routine immunisation has been proposed. We hypothesise that screening children aged 1-2 years with a total cholesterol level, taken at the time of a routine immunisation will be feasible, cost effective and acceptable to parents.
Interventions
This will be a prospective, two-stage biochemical and “reflex” genetic testing strategy study to identify children with familial hypercholesterolaemia. The study population will be children aged 1-2 years receiving their scheduled 12- or 18-month immunisations, or an influenza immunisation, in a general practice or child health centre.
At the same time as the immunisation is administered by the practice nurse or general practitioner (GP), a heel-prick sample of blood (400 µL) will be collected
This will be a prospective, two-stage biochemical and “reflex” genetic testing strategy study to identify children with familial hypercholesterolaemia. The study population will be children aged 1-2 years receiving their scheduled 12- or 18-month immunisations, or an influenza immunisation, in a general practice or child health centre. At the same time as the immunisation is administered by the practice nurse or general practitioner (GP), a heel-prick sample of blood (400 µL) will be collected by a second health professional (nurse or GP) into two separate capillary tubes, one for point of care testing for total cholesterol (100 µL) and one retained and frozen for “reflex” genetic testing (next generation sequencing, NGS) (300 µL). Capillary blood collected for NGS will be decanted into an EDTA tube which is then shaken, labelled and placed on ice prior prior to the sample being stored at -80°C.
Sponsors
Dr Andrew Martin
Study design
Allocation
Non-randomised trial
Primary purpose
Diagnosis
Eligibility
Sex/Gender
All
Age
12 Months to 24 Months
Healthy volunteers
Yes
Inclusion criteria
Children 1-2 years presenting to a general practice or child health centre for an immunisation. Only those parents whose child is found to have FH will be assessed with a total cholesterol level and FH mutational analysis, as one parent will also have FH.
Exclusion criteria
Children with a known family history of familial hypercholesterolaemia
Outcome results
None listed