IN-TANDEM Familial Hypercholesterolemia Pilot Study

NCT03253432 | Completed

• 1 other identifier: 826438
• Study Type: observational
• Target: 378
• Locations: 1 country
• Sites: 2

Brief Summary

The purpose of this study is to validate the use of the FH Foundation FIND FH® Algorithm as a clinical decision support tool. FIND FH (Flag/Identify/Network/Engage) is a national initiative that utilizes machine learning and data mining techniques to identify individuals whose profiles are consistent with FH patients. The algorithm will be tested in adults with at least one cardiovascular comorbidity. Study subjects will be asked to provide either a saliva, buccal or venous blood sample for DNA and biomarker analysis

Conditions

Familial Hypercholesterolemia

Outcome Measures

Primary Outcomes (1)

• Likelihood of having FH-causing mutation

  Proportion of subjects with causative mutation in higher algorithm score groups

  12 months

Study Arms (5)

Strata 0-0.05

Lowest probability of having familial hypercholesterolemia

Other: Genetic testing

Strata 0.06-0.15

Second lowest probability of having familial hypercholesterolemia

Other: Genetic testing

Strata 0.16-0.19

Moderate probability of having familial hypercholesterolemia

Other: Genetic testing

Strata 0.20-0.34

Second highest probability of having familial hypercholesterolemia

Other: Genetic testing

Strata greater than or equal to 35

Highest probability of having familial hypercholesterolemia

Other: Genetic testing

Interventions

Genetic testing OTHER

Targeted next-generation sequencing for familial hypercholesterolemia causative mutations

Strata 0-0.05; Strata 0.06-0.15; Strata 0.16-0.19; Strata 0.20-0.34; Strata greater than or equal to 35

Eligibility Criteria

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

Study Population

Randomly selected patients from University of Pennsylvania and Lancaster General Hospital with at least 1 cardiovascular comorbidity seen at hospital within the past five years.

You may qualify if:

• Age 18 years or older
• At least one cardiovascular co-morbidity or receiving treatment for a cardiovascular comorbidity
• Algorithm score 0-1
• Most recent encounter with a provider within five years of query date

You may not qualify if:

• Any medical or psychological conditions that, in the opinion of the investigator, would compromise the subject's safety or successful participation in the study, or confound study data

Sponsors & Collaborators

• University of Pennsylvania: lead
• The Familial Hypercholesterolemia Foundation: collaborator
• Lancaster General Hospital: collaborator

Study Sites (2)

Lancaster General Hospital

Lancaster, Pennsylvania, 17602, United States

Location

University of Pennsylvania

Philadelphia, Pennsylvania, 19104, United States

Location

Related Publications (1)

• Qureshi N, Da Silva MLR, Abdul-Hamid H, Weng SF, Kai J, Leonardi-Bee J. Strategies for screening for familial hypercholesterolaemia in primary care and other community settings. Cochrane Database Syst Rev. 2021 Oct 7;10(10):CD012985. doi: 10.1002/14651858.CD012985.pub2.

  PMID: 34617591 DERIVED

MeSH Terms

Conditions

Hyperlipoproteinemia Type II

Interventions

Genetic Testing

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

Intervention Hierarchy (Ancestors)

Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Investigative Techniques; Genetic Techniques; Genetic Services; Health Services; Health Care Facilities Workforce and Services; Diagnostic Services; Preventive Health Services

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: August 15, 2017
• First Posted: August 17, 2017
• Study Start: July 20, 2017
• Primary Completion: November 7, 2018
• Study Completion: November 7, 2018
• Last Updated: February 28, 2019

Record last verified: 2019-02

Data Sharing

• IPD Sharing: Will share
• Shared Documents: STUDY PROTOCOL, ICF, CSR, ANALYTIC CODE
• Time Frame: De-identified data will be shared at end of study after database lock
• Access Criteria: Research team

Locations

US (2)