Clinical trial NCT03934320: Improving Identification of Familial Hypercholesterolaemia in Primary Care (FAMCAT)
Official title: Improving Identification of Familial Hypercholesterolaemia in Primary Care Using a New Case Ascertainment Tool (FAMCAT)
Study type: INTERVENTIONAL
Overall status: UNKNOWN
Phase: NA
Conditions: Familial Hypercholesterolemia
Lead sponsor: University of Nottingham
Sponsor class: OTHER
Collaborators: name: Newcastle University
name: University College, London
name: University of Manchester
First posted: 2019-05-01
Enrollment: 400
Sex: ALL
Minimum age (years): 18
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: yes
Allocation: NA
Intervention model: SINGLE_GROUP
Primary purpose: DIAGNOSTIC

Brief summary: Multi-centre, non-randomised, non-controlled quasi-experimental study with nested qualitative study and economic appraisal.

Improving the identification of patients at high risk of cardiovascular disease in primary care, caused by conditions such as familial hypercholesterolaemia (FH), is a well-recognised national priority to prevent morbidity and mortality by early effective intervention.

This study will prospectively evaluate the clinical utility of the new primary care FH identification tool (FAMCAT) for identifying undiagnosed FH in routine primary care practice; and to assess its appropriateness, acceptability and cost-effectiveness.

This study will answer the following research questions (RQ):

1. What is the detection rate for new genetically-confirmed FH cases using the FAMCAT algorithm?
2. Is the FAMCAT tool appropriate and acceptable to practitioners and patients?
3. How can the FAMCAT tool be optimised to improve identification of FH?
4. What is the potential cost-effectiveness of the FAMCAT tool compared with current practice to identify patients with FH?
5. Can the FAMCAT intervention be improved?
6. What definitive study design and outcome measures are needed to provide robust evidence on whether to introduce FAMCAT into primary care practice?

RQ(1) \& (3) will be answered by a quasi-experimental diagnostic accuracy study; RQ(2) \& (5) answered by qualitative study; RQ (4) answered by economic appraisal and RQ(6) informed by all previous studies.


Eligibility criteria: Inclusion Criteria:

Patients - General practices

* Able to give written informed consent
* 18 years of age or over
* Serum cholesterol recorded in General Practice (GP) electronic records
* Registered with a participating GP practice
* Able to complete the self-administered questionnaires in English
* No previous recorded diagnosis of familial hypercholesterolaemia in their GP electronic health records
* Considered by their General Practitioner(s) to be appropriate to recruit to the study.

Patients - Secondary care

* Able to give written informed consent
* 18 years of age or over
* Referred to or under the care of participating Trusts (e.g. lipid clinics)
* Able to understand the study information and consent in English
* Considered by their healthcare professions to be appropriate to recruit to the study.

Staff

* Able to give written informed consent
* 18 years of age or over
* Working at a participating General Practice, Clinical Commissioning Group (CCG) or Secondary Care Trust.

Nominal Group

* Able to give written informed consent
* 18 years of age or over
* A FH stakeholder (including specialists, primary care commissioners, FH patient representative)

Exclusion Criteria:

Patients - General practices

* Unable to give written informed consent
* Under 18 years of age
* Serum cholesterol not recorded in GP electronic records
* Not registered with a participating GP practice
* Unable to complete the self-administered questionnaires in English
* Has a diagnosis of familial hypercholesterolaemia in their GP electronic records
* Unable to have a blood test (for medical or personal reasons)
* Have an opt-out code where patients has declined electronic medical records examined
* Considered by their General Practitioner(s) to be inappropriate to recruit due to psycho-social reasons, participating in another related clinical trial or significant health reasons, e.g. terminal illness/diagnosis.

Patients - Secondary care

* Unable to give written informed consent
* Under 18 years of age
* Not referred to or under the care of participating Trusts (e.g. lipid clinics)
* Unable to understand the study information and consent in English
* Considered by their healthcare professionals to be inappropriate to recruit to the study.

Staff

* Unable to give written informed consent
* Under 18 years of age
* Has not worked at a participating General Practice, CCG or Secondary Care Trust.

Nominal Group

* Unable to give written informed consent
* Under 18 years of age
* Not an FH stakeholder or FH patient representative

Primary outcomes:
measure: Detection of genetically confirmed new FH cases using case identification tool (FAMCAT)
timeFrame: Through study completion, an average of 2 years
Secondary outcomes:
measure: Acceptability of FAMCAT
timeFrame: Through study completion, an average of 2 years.
measure: Appropriateness of FAMCAT
timeFrame: Through study completion, an average of 2 years.
measure: Usability of FAMCAT
timeFrame: Through study completion, an average of 2 years.
measure: Self-reported anxiety measures for use in a future trial
timeFrame: Baseline to 15 months after genetic test results reported
measure: Self-reported lifestyle change measures for use in a future trial
timeFrame: Baseline to 15 months after genetic test results reported
measure: Beliefs about predisposition to coronary heart disease
timeFrame: Baseline to 15 months after genetic test results reported
measure: Cost-effective FAMCAT threshold to identify genetically confirmed FH
timeFrame: through study completion, an average of 2 years
Other outcomes:
Locations:
city: Nottingham
country: United Kingdom
facility: Division of Primary Care, University of Nottingham
state: Nottinghamshire
Study officials:
affiliation: University of Nottingham
name: Nadeem Qureshi, DM
role: PRINCIPAL_INVESTIGATOR
References:
citation: Qureshi N, Akyea RK, Dutton B, Leonardi-Bee J, Humphries SE, Weng S, Kai J. Comparing the performance of the novel FAMCAT algorithms and established case-finding criteria for familial hypercholesterolaemia in primary care. Open Heart. 2021 Oct;8(2):e001752. doi: 10.1136/openhrt-2021-001752.
citation: Qureshi N, Akyea RK, Dutton B, Humphries SE, Abdul Hamid H, Condon L, Weng SF, Kai J; FAMCAT study. Case-finding and genetic testing for familial hypercholesterolaemia in primary care. Heart. 2021 Dec;107(24):1956-1961. doi: 10.1136/heartjnl-2021-319742. Epub 2021 Sep 14.