Global registry collecting data on people with homozygous familial hypercholesterolemia
Collects de-identified records of people with a rare inherited high-cholesterol disorder.
Key facts
- Who runs it
- University of Pennsylvania
- Where
- Philadelphia, United StatesSee the siteAlso in 2 other countries, 3 sites
- Trial code
- Registry title
- HoFH, the International Clinical Collaborators Registry
- Status
- Recruiting
- People taking part
- 1,000 people, planned
- Started
- 24 Jan 2017
- Expected to end
- 31 Dec 2026
- Type of study
- Observational
- Treatments tested
- Demographics, diagnosis type, genotype, lipid profile, treatment allocation, country of residence.
- Record updated
- 18 December 2025
Who can take part
AI summary
From the trial's eligibility criteria. Machine-read from the registry text on this page, so it can be wrong. The registry text below and the trial team decide who can take part.
The registry is looking for people with homozygous familial hypercholesterolemia (HoFH), a rare inherited disorder with very high LDL cholesterol from birth. The diagnosis can be clinical or genetic.
- Sex
- All sexes can join.
- Disease stage
- A diagnosis of homozygous familial hypercholesterolemia (HoFH), made clinically or by genetic testing.
Main reasons for not taking part
- No diagnosis of HoFH
The registry criteria, word for word
Show all 2 criteriaShow less
Who can take part
- Diagnosis of homozygous familial hypercholesterolemia (HoFH) clinically of genetically determined
Who cannot take part
- No diagnosis of HoFH
Where in United States
Also in 2 other countries, 3 sites
- University of PennsylvaniaPhiladelphia, United StatesContact: Marina Cuchel, MD, PhDTaking people
About the trial
What the trial wants to find out
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.
The group in the trial
- HoFH
Patients diagnosed with HoFH by their physicians, either based on clinical or genetic criteria.
Treatment: Demographics, diagnosis type, genotype, lipid profile, treatment allocation, country of residence.
Questions to ask the study team
- How often do I need to come in, and for how long each time?
- Are travel costs paid?
- Can I keep my own doctor?
- What happens if I want to stop?
Contact the study team: see the registry record → Contacts and Locations
Print a page for my doctorData and sources
- Registry record
- Listed on ClinicalTrials.gov.
- Official title
- HoFH, the International Clinical Collaborators - A Global HoFH Data-sharing Platform
- Plain-language title
- Global registry collecting data on people with homozygous familial hypercholesterolemiaGenerated from the registry record. The registry title is the official one.
- AI summary
- From the trial's eligibility criteria. Read by machine on 12 November 2026.
- Record updated
- 18 December 2025