An observational study in Familial Hypercholesterolemia, sponsored by Polish Mother Memorial Hospital Research Institute. Recruiting at 1 site in Poland. Open to participants aged 1 Day and older. Per ClinicalTrials.gov, last updated 2024-08-26.
Sponsored by Polish Mother Memorial Hospital Research Institute · Observational
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).
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.
245 studies on the registry are indexed under Hyperlipoproteinemia Type II; 52 are open to participants now.
This study's planned enrollment of 300 is below the median of 743 across 66 observational studies indexed under Hyperlipoproteinemia Type II.
Browse Hyperlipoproteinemia Type II studies →Polish Mother Memorial Hospital Research Institute is the lead sponsor of 19 studies on the registry; 6 are open to participants now.
Counted across the registry records on this site, refreshed daily.
All consecutive patients diagnosed with FH, including both children and adults,
Exclusion Criteria:
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Therapeutic goals achivement
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.
Time frame: 5 years
Plan to share: Undecided
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Polish Mother Memorial Hospital Research Institute