What this study is
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.
What's being tested
- Demographics, diagnosis type, genotype, lipid profile, treatment allocation, country of residence.
Intervention · OTHER
Differences in diagnosis, genotype, lipid profile treatment allocation among HoFH patients worldwide.
Study details
- Official title
- HoFH, the International Clinical Collaborators - A Global HoFH Data-sharing Platform
- Sponsor
- University of Pennsylvania
- Conditions
- Homozygous Familial Hypercholesterolemia
- Enrolling
- 1,000 people
- Starts
- 2017-01-24
- Est. completion
- 2026-12-31
- Record
- View on ClinicalTrials.gov ↗
Who can join
Sex ALLHealthy volunteers Not acceptedYou may qualify if
- Diagnosis of homozygous familial hypercholesterolemia (HoFH) clinically of genetically determined
You can't join if
- No diagnosis of HoFH
Sign in and we'll check these against your records.Full criteria on ClinicalTrials.gov ↗
Loading treatment details…
Study locations (4)
4 openUniversity of Pennsylvania
Philadelphia, Pennsylvania, United States
- Marina Cuchel, MD, PhD · Contact215-662-7188mcuchel@pennmedicine.upenn.edu
- Lauren Vincent, MRA · Contact2156155448laurv@pennmedicine.upenn.edu
- Marina Cuchel, MD, PhD · Principal investigator
Recruiting
3 sites outside the US
Department of Vascular Medicine, Amsterdam UMC
Amsterdam, Netherlands
- G. Kees Hovingh, MD, PhD · Contactg.k.hovingh@amsterdamumc.nl
- G. Kees Hovingh, MD, PhD · Principal investigator
RecruitingDepartment of Medicine, Division of Lipidology and Hatter Institute for Cardiovascular Research in Africa, University of Cape Town
Cape Town, South Africa
- Dirk J Blom · Contactdirk.blom@uct.ac.za
- Dirk J Blom · Principal investigator
Recruitingc. Carbohydrate and Lipid Metabolism Research Unit, Faculty of Health Sciences, University of Witwatersrand
Johannesburg, South Africa
- Frederick J Raal · Contactfrederick.raal@wits.ac.za
- Frederick J Raal, PhD · Principal investigator
Recruiting
Study team
Sponsor
University of Pennsylvania
Study ID HICC
Principal investigator
Marina Cuchel, MD, PhD
University of Pennsylvania
Frequently asked questions
The sponsor hasn't published answers to common questions for this trial.