Improving Identification of Familial Hypercholesterolaemia in Primary Care (FAMCAT)

NCT03934320 | Unknown

• 2 other identifiers: 16090332
• Study Type: interventional
• Target: 400
• Locations: 1 country
• Sites: 1

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

Conditions

Familial Hypercholesterolemia

Outcome Measures

Primary Outcomes (1)

• Detection of genetically confirmed new FH cases using case identification tool (FAMCAT)

  Efficacy measure: Proportion (%) of genetically-confirmed FH cases Proportion (%) of genetically-confirmed FH cases

  Through study completion, an average of 2 years

Secondary Outcomes (7)

• Acceptability of FAMCAT

  Through study completion, an average of 2 years.

• Appropriateness of FAMCAT

  Through study completion, an average of 2 years.

• Usability of FAMCAT

  Through study completion, an average of 2 years.

• Self-reported anxiety measures for use in a future trial

  Baseline to 15 months after genetic test results reported

• Self-reported lifestyle change measures for use in a future trial

  Baseline to 15 months after genetic test results reported

Study Arms (1)

FAMCAT

OTHER

Other: FAMCAT

Interventions

FAMCAT OTHER

The intervention is a computer-based software algorithm (FAMCAT) for use in general practice with a family history questionnaire.

FAMCAT

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)

You may qualify if:

• Patients - General practices
• Able to give written informed consent
• 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
• 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

You may not qualify if:

• 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

Sponsors & Collaborators

• University of Nottingham: lead
• Newcastle University: collaborator
• University College, London: collaborator
• University of Manchester: collaborator

Study Sites (1)

Division of Primary Care, University of Nottingham

Nottingham, Nottinghamshire, NG7 2UH, United Kingdom

Location

Related Publications (2)

• 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.

  PMID: 34635577 DERIVED

• 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.

  PMID: 34521694 DERIVED

Related Links

• Funder website

MeSH Terms

Conditions

Hyperlipoproteinemia Type II

Condition Hierarchy (Ancestors)

Lipid Metabolism, Inborn Errors; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hyperlipoproteinemias; Hyperlipidemias; Dyslipidemias; Lipid Metabolism Disorders; Metabolic Diseases; Nutritional and Metabolic Diseases

Study Officials

• Nadeem Qureshi, DM

  University of Nottingham

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Purpose: DIAGNOSTIC
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: March 8, 2019
• First Posted: May 1, 2019
• Study Start: June 12, 2017
• Primary Completion: July 31, 2020
• Study Completion: July 31, 2020
• Last Updated: May 1, 2019

Record last verified: 2019-04

Data Sharing

• IPD Sharing: Will not share

Locations

GB (1)