MedTrace Logo

HoFH, the International Clinical Collaborators Registry

NCT04815005 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 1000

Last updated 2025-12-18

No results posted yet for this study

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.

Conditions

  • Homozygous Familial Hypercholesterolemia

Interventions

OTHER

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

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

Sponsors & Collaborators

  • University of Amsterdam

    collaborator OTHER

  • University of Cape Town

    collaborator OTHER

  • University of Witwatersrand, South Africa

    collaborator OTHER

  • University of Pennsylvania

    lead OTHER

Principal Investigators

  • Marina Cuchel, MD, PhD · University of Pennsylvania

Eligibility

Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2017-01-24
Primary Completion
2026-12-31
Completion
2026-12-31

Countries

  • United States
  • Netherlands
  • South Africa

Study Locations

More Related Trials

Entities

Companies

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT04815005 on ClinicalTrials.gov