Clinical trial NCT06571630: PMMHRI - Familial Hypercholesterolemia Registry
Official title: Polish Mother's Memorial Hospital Research Institute - Familial Hypercholesterolemia Registry
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Familial Hypercholesterolemia
Keywords: Familial Hypercholesterolemia
Lead sponsor: Polish Mother Memorial Hospital Research Institute
Sponsor class: OTHER
First posted: 2024-08-26
Enrollment: 300
Sex: ALL
Minimum age (years): 1
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: All consecutive patients diagnosed with FH, including both children and adults,

Brief summary: 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).

Detailed description: 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.

Eligibility criteria: Inclusion Criteria:

* FH diagnosis

Exclusion Criteria:

-

Primary outcomes:
measure: Therapeutic goals achivement
timeFrame: 5 years
Secondary outcomes:
Other outcomes:
Locations:
city: Lodz
country: Poland
facility: Polish Mother Memorial Research Institute (PMMHRI) in Lodz, Poland
Study officials:
References:
citation: Lewek J, Konopka A, Starostecka E, Penson PE, Maciejewski M, Banach M. Clinical Features of Familial Hypercholesterolemia in Children and Adults in EAS-FHSC Regional Center for Rare Diseases in Poland. J Clin Med. 2021 Sep 22;10(19):4302. doi: 10.3390/jcm10194302.
citation: European Atherosclerosis Society Familial Hypercholesterolaemia Studies Collaboration. Familial hypercholesterolaemia in children and adolescents from 48 countries: a cross-sectional study. Lancet. 2024 Jan 6;403(10421):55-66. doi: 10.1016/S0140-6736(23)01842-1. Epub 2023 Dec 12.
citation: EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC). Global perspective of familial hypercholesterolaemia: a cross-sectional study from the EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC). Lancet. 2021 Nov 6;398(10312):1713-1725. doi: 10.1016/S0140-6736(21)01122-3. Epub 2021 Sep 7.