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Clinical Trial Summary

Familial hypercholesterolemia (FH) is a common disease. The genetic background to FH is not yet fully understood. In the present prospective cohort study we aim to study the association between different clinical characteristics, gene mutations and prognosis.


Clinical Trial Description

In this prospective observational cohort study of patients with high clinical suspicion of familial hypercholesterolemia (FH) we aim to study the association between different clinical characteristics, gene mutations and prognosis. The included patients will undergo physical examination and extended blood sampling. DNA will be extracted and used for both whole genome sequencing and investigation of both known- , unknown- and suspected mutations associated with FH. The patients will be followed in for 15 years in the Swedish patients registry and the Swedish cause of death registry. ;


Study Design


Related Conditions & MeSH terms


NCT number NCT04101149
Study type Observational
Source Region Örebro County
Contact Anna M Nordenskjöld, MD, PhD
Phone +46 19 6021000
Email anna.nordenskjold@regionorebrolan.se
Status Recruiting
Phase
Start date September 1, 2019
Completion date December 2045

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