PMMHRI - Familial Hypercholesterolemia Registry

The registry is maintained at the Regional Centre for Rare Diseases, established in 2016, within Polish Mother's Memorial Hospital Research Institute. This facility diagnoses and treats over 80 distinct rare diseases in patients from across the country, including those with phenotypically or genetically confirmed familial hypercholesterolemia (FH).

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Key information

Conditions

Familial Hypercholesterolemia Congenital, Hereditary, and Neonatal Diseases and Abnormalities Dyslipidemias Genetic Diseases, Inborn Hyperlipidemias Hyperlipoproteinemia Type II Hyperlipoproteinemias Lipid Metabolism Disorders Lipid Metabolism, Inborn Errors Metabolic Diseases Metabolism, Inborn Errors Nutritional and Metabolic Diseases

Age range

1 day and older

Sex eligibility

All sexes

Study type

Observational

Primary location

Polish Mother Memorial Research Institute (PMMHRI) in Lodz, Poland

Lodz, 93-338, Poland

Location status: Recruiting

About this study

All consecutive patients diagnosed with FH, including both children and adults, are being enrolled from December 2018 to May 2024. Each patient receives a consultation with a clinical geneticist and a dietitian, who provide recommendations for cascade screening among family members and promote a healthy and balanced diet. The study includes all index cases, with children also serving as index cases.

The PMMHRI FH registry is managed by physicians from the RCRD, who exclusively make all diagnostic and treatment decisions. The purpose of the registry is to investigate the clinical characteristics, diagnosis, management, achievement of therapeutic goals, and outcomes of FH patients. Inclusion criteria are based on phenotypic or genetic diagnosis of FH. Phenotypic diagnosis is conducted using the Dutch Lipid Clinic Network criteria for adults, and the Simon Broome criteria for children. During the baseline visit, comprehensive data collection includes all available lipidogram results, aiming to obtain naive LDL-C values, highest values, and treated values. All data collected during the enrollment period are included in the study.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

FH diagnosis

Exclusion criteria

Treatment and study plan

Primary outcomes

Therapeutic goals achivement

Time frame: 5 years

For each patient, we collect data on the levels of all lipid profile fractions: such as total cholesterol [mg/dl], low density lipoprotein cholesterol - LDL [mg/dl], high density lipoprotein cholesterol HDL [mg/dl], triglycerides [mg/dl], non-HDL [mg/dl] and lipoprotein(a) during both dual and triple therapy. Additionally, we will assess the achievement of the therapeutic target as defined by the ESC guidelines. The therapeutic target for each patient will be evaluated individually based on their risk, in accordance with the ESC guidelines.

Interested in participating?

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Sponsors and collaborators

Lead sponsor

Polish Mother Memorial Hospital Research Institute

Other

Registry information

Official study title

Polish Mother's Memorial Hospital Research Institute - Familial Hypercholesterolemia Registry

Acronym: FH-Registry

Important dates

Study start: 2018
Primary completion: 2025
Study completion: 2025
First posted: Aug 26, 2024
Registry last updated: Aug 26, 2024

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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