HoFH, the International Clinical Collaborators - A Global HoFH Data-sharing Platform
University of Pennsylvania
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.
Description
The HICC registry is an observational, multicenter, international registry collecting de-identified clinical and genetic information from patients with homozygous Familial Hypercholesterolemia (HoFH) worldwide. Patients are eligible to be enrolled in the registry based on the diagnosis of HoFH by the treating clinician, irrespective of how the diagnosis was made. To generate up-to-date data reflecting current rather than historic practice, patients who died or were lost to follow-up prior to 2010 are excluded. Anonymized data on demographics, type of HoFH diagnosis (clinical and/or based on…
Eligibility
- Age range
- Not specified
- Sex
- All
- Healthy volunteers
- No
Inclusion Criteria: * Diagnosis of homozygous familial hypercholesterolemia (HoFH) clinically of genetically determined Exclusion Criteria: * No diagnosis of HoFH
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 PennsylvaniaPhiladelphia, Pennsylvania
- Department of Vascular Medicine, Amsterdam UMCAmsterdam
- Department of Medicine, Division of Lipidology and Hatter Institute for Cardiovascular Research in Africa, University of Cape TownCape Town
- c. Carbohydrate and Lipid Metabolism Research Unit, Faculty of Health Sciences, University of WitwatersrandJohannesburg