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

Status: Recruiting
Location: See all (4) locations...
Intervention Type: Other
Study Type: Observational
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
Participation Requirements
Sex: All
Healthy Volunteers: f
View:

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

Locations
United States
Pennsylvania
University of Pennsylvania
RECRUITING
Philadelphia
Other Locations
Netherlands
Department of Vascular Medicine, Amsterdam UMC
RECRUITING
Amsterdam
South Africa
Department of Medicine, Division of Lipidology and Hatter Institute for Cardiovascular Research in Africa, University of Cape Town
RECRUITING
Cape Town
c. Carbohydrate and Lipid Metabolism Research Unit, Faculty of Health Sciences, University of Witwatersrand
RECRUITING
Johannesburg
Contact Information
Primary
Marina Cuchel, MD, PhD
mcuchel@pennmedicine.upenn.edu
2156627188
Backup
Lauren Vincent, MRA
laurv@pennmedicine.upenn.edu
2156155448
Time Frame
Start Date: 2017-01-24
Estimated Completion Date: 2025-12-31
Participants
Target number of participants: 1000
Treatments
HoFH
Patients diagnosed with HoFH by their physicians, either based on clinical or genetic criteria.
Sponsors
Collaborators: University of Amsterdam, University of Witwatersrand, South Africa, University of Cape Town
Leads: University of Pennsylvania

This content was sourced from clinicaltrials.gov