RecruitingNCT04815005

HoFH, the International Clinical Collaborators Registry

HoFH, the International Clinical Collaborators - A Global HoFH Data-sharing Platform


Sponsor

University of Pennsylvania

Enrollment

1,000 participants

Start Date

Jan 24, 2017

Study Type

OBSERVATIONAL

Conditions

Summary

Homozygous familial hypercholesterolemia (HoFH), a rare inherited disorder caused by bi-allelic mutations in the LDL Receptor pathway, is characterized by extremely elevated levels of low-density lipoprotein cholesterol (LDL-C) from birth and premature atherosclerotic cardiovascular disease (ASCVD). Our current knowledge about HoFH is disjointed and largely stems from relatively small case series and expert opinion. HICC (Homozygous FH International Clinical Collaborators) is a global consortium of clinicians who are contributing de-identified data of patients diagnosed with HoFH with the goal to advance our understanding of this rare disease.


Eligibility

Inclusion Criteria1

  • Diagnosis of homozygous familial hypercholesterolemia (HoFH) clinically of genetically determined

Exclusion Criteria1

  • No diagnosis of HoFH

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Interventions

OTHERDemographics, diagnosis type, genotype, lipid profile, treatment allocation, country of residence.

Differences in diagnosis, genotype, lipid profile treatment allocation among HoFH patients worldwide.


Locations(4)

University of Pennsylvania

Philadelphia, Pennsylvania, United States

Department of Vascular Medicine, Amsterdam UMC

Amsterdam, Netherlands

Department of Medicine, Division of Lipidology and Hatter Institute for Cardiovascular Research in Africa, University of Cape Town

Cape Town, South Africa

c. Carbohydrate and Lipid Metabolism Research Unit, Faculty of Health Sciences, University of Witwatersrand

Johannesburg, South Africa

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NCT04815005


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