Clinical trial NCT04815005: HoFH, the International Clinical Collaborators Registry
Official title: HoFH, the International Clinical Collaborators - A Global HoFH Data-sharing Platform
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Homozygous Familial Hypercholesterolemia
Keywords: Homozygous Familial Hypercholesterolemia
Autosomal Dominant
Hypercholesterolemia
Autosomal Recessive Hypercholesterolemia
Registry
Lead sponsor: University of Pennsylvania
Sponsor class: OTHER
Collaborators: name: University of Amsterdam
name: University of Cape Town
name: University of Witwatersrand, South Africa
First posted: 2021-03-24
Enrollment: 1000
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: CASE_ONLY
Time perspective: CROSS_SECTIONAL
Sampling method: NON_PROBABILITY_SAMPLE
Study population: The registry aims to include data from as many patients diagnosed with HoFH as possible. All patients must be living at time of entry into the database or have been deceased within the last 5 years.

Brief 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.

Detailed 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 the results of a genetic test), genetic results, (cardiovascular) medical history, relevant family history, physical examination, laboratory measurements, lipid lowering treatment and cardiovascular imaging are collected for 3 different time points: at diagnosis, at enrolment and at time of best lipid profile (if this is different from time at enrolment). Data are collected using pre-definite electronic case report forms to ensure uniformity of data collected. Primary analysis will be cross-sectional (e.g. based on country of residence, age, etc)

Eligibility criteria: Inclusion Criteria:

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

Exclusion Criteria:

* No diagnosis of HoFH

Primary outcomes:
measure: Number of participants entered into the database
timeFrame: Through study completion, an average of 8 years
Secondary outcomes:
measure: Untreated and treated LDL-C levels across world income regions
timeFrame: Through study completion, an average of 8 years
Other outcomes:
Locations:
city: Philadelphia
country: United States
facility: University of Pennsylvania
state: Pennsylvania
city: Amsterdam
country: Netherlands
facility: Department of Vascular Medicine, Amsterdam UMC
city: Cape Town
country: South Africa
facility: Department of Medicine, Division of Lipidology and Hatter Institute for Cardiovascular Research in Africa, University of Cape Town
city: Johannesburg
country: South Africa
facility: c. Carbohydrate and Lipid Metabolism Research Unit, Faculty of Health Sciences, University of Witwatersrand
Study officials:
affiliation: University of Pennsylvania
name: Marina Cuchel, MD, PhD
role: PRINCIPAL_INVESTIGATOR
References:
citation: Tromp TR, Hartgers ML, Hovingh GK, Vallejo-Vaz AJ, Ray KK, Soran H, Freiberger T, Bertolini S, Harada-Shiba M, Blom DJ, Raal FJ, Cuchel M; Homozygous Familial Hypercholesterolaemia International Clinical Collaborators. Worldwide experience of homozygous familial hypercholesterolaemia: retrospective cohort study. Lancet. 2022 Feb 19;399(10326):719-728. doi: 10.1016/S0140-6736(21)02001-8. Epub 2022 Jan 28.