PMMHRI - Familial Hypercholesterolemia Registry

NCT ID: NCT06571630

Last Updated: 2024-08-26

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

RECRUITING

Total Enrollment

300 participants

Study Classification

OBSERVATIONAL

Study Start Date

2018-01-01

Study Completion Date

2025-12-31

Brief Summary

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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

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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.

Conditions

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Familial Hypercholesterolemia

Study Design

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Observational Model Type

CASE_ONLY

Study Time Perspective

CROSS_SECTIONAL

Eligibility Criteria

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Inclusion Criteria

* FH diagnosis

Exclusion Criteria

\-
Minimum Eligible Age

1 Day

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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Polish Mother Memorial Hospital Research Institute

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Locations

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

Lodz, , Poland

Site Status RECRUITING

Countries

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Poland

Central Contacts

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Maciej Banach, MD,PhD,FNLA,FAHA,FESC,FASA

Role: CONTACT

+48 42 2711124

Joanna Lewek, MD, PhD

Role: CONTACT

+48 42 2711593

Facility Contacts

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Maciej Banach, MD,PhD,FNLA,FAHA,FESC,FASA

Role: primary

+48 42 2711124

Joanna Lewek, MD, PhD

Role: backup

+48 422721593

References

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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.

Reference Type BACKGROUND
PMID: 34640319 (View on PubMed)

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.

Reference Type BACKGROUND
PMID: 38101429 (View on PubMed)

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.

Reference Type BACKGROUND
PMID: 34506743 (View on PubMed)

Other Identifiers

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PMMHRI-FH-Registry

Identifier Type: -

Identifier Source: org_study_id

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