NCT03198897

Brief Summary

Development of a new MS-based biomarker for the early and sensitive diagnosis of Homozygous familial Hypercholesterolemia from blood

Trial Health

33
At Risk

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Trial has exceeded expected completion date
Timeline
Completed

Started Aug 2018

Typical duration for all trials

Geographic Reach
3 countries

4 active sites

Status
withdrawn

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

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Study Timeline

Key milestones and dates

First Submitted

Initial submission to the registry

June 19, 2017

Completed
7 days until next milestone

First Posted

Study publicly available on registry

June 26, 2017

Completed
1.2 years until next milestone

Study Start

First participant enrolled

August 20, 2018

Completed
2.5 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

February 28, 2021

Completed
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

February 28, 2021

Completed
Last Updated

February 13, 2023

Status Verified

February 1, 2023

Enrollment Period

2.5 years

First QC Date

June 19, 2017

Last Update Submit

February 9, 2023

Conditions

Lipoprotein Lipase DeficiencyInborn Error of Lipid MetabolismCorneal Arcus

Keywords

familial hypercholesterolaemiaBiomarker

Outcome Measures

Primary Outcomes (1)

  • Sequencing of the Homozygous Familial Hypercholesterolemia disease related genes

    Next-Generation Sequencing (NGS) of the following genes: LDLR, APoB, PCSK9 and LDLRAP1 will be performed. The mutation will be confirmed by Sanger sequencing.

    4 weeks

Secondary Outcomes (1)

  • The Homozygous familial Hypercholesterolemia specific biomarker candidates finding

    24 months

Study Arms (1)

Observation

Patients with a Homozygous familial Hypercholesterolemia or high-grade suspicion for Homozygous familial Hypercholesterolemia

Eligibility Criteria

Age2 Months+
Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodProbability Sample
Study Population

Patients with a Homozygous familial Hypercholesterolemia or high-grade suspicion for Homozygous familial Hypercholesterolemia

You may qualify if:

  • Informed consent will be obtained from the patient or the parents before any study related procedures
  • Patients of both genders older than 2 months
  • The patient has a diagnosis of a homozygous familial Hypercholesterolemia or a high grade suspicion for a homozygous familial Hypercholesterolemia
  • Positive family anamnesis for a homozygous familial hypercholesterolemia
  • Xanthomas
  • Corneal arcus
  • High levels of plasma cholesterol
  • Manifestations of premature coronary heart disease

You may not qualify if:

  • No Informed consent from the patient or the parents before any study related procedures.
  • Patients of both gender younger than 2 months
  • No diagnosis of a homozygous familial hypercholesterolemia or no valid criteria for profound suspicion of a homozygous familial hypercholesterolemia

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (4)

Centogene AG

Rostock, 18055, Germany

Location

Amrita Institute of Medical Sciences & Research Centre

Kochi, Kerala, 682041, India

Location

NIRMAN Navi Mumbai Institute of Research In Mental And Neurological Handicap/Pediatric Geneticist

Mumbai, 400705, India

Location

Lady Ridgeway Hospital for Children

Colombo, 00800c, Sri Lanka

Location

Biospecimen

Retention: SAMPLES WITH DNA

For the development of the new biomarkers using the technique of Mass-spectrometry, a blood sample will be taken vis using a dry blood spot filter card and will be analysed in a specialist laboratory. To proof the correct diagnosis a homozygous familial hypercholes-terolemia, in those patients where up to the enrollment in the study no genetic testing has been done, sequencing of a homozygous familial hypercholesterolemia will be per-formed. The analyses will be done at: Centogene AG Am Strande 7 18055 Rostock Germany

MeSH Terms

Conditions

Hyperlipoproteinemia Type ILipid Metabolism, Inborn ErrorsArcus SenilisHyperlipoproteinemia Type II

Condition Hierarchy (Ancestors)

Metabolism, Inborn ErrorsGenetic Diseases, InbornCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesHyperlipoproteinemiasHyperlipidemiasDyslipidemiasLipid Metabolism DisordersMetabolic DiseasesNutritional and Metabolic DiseasesCorneal OpacityCorneal DiseasesEye Diseases

Study Officials

  • Peter Bauer, Prof.

    Centogene GmbH

    STUDY CHAIR
0

Study Design

Study Type
observational
Observational Model
COHORT
Time Perspective
PROSPECTIVE
Sponsor Type
INDUSTRY
Responsible Party
SPONSOR

Study Record Dates

First Submitted

June 19, 2017

First Posted

June 26, 2017

Study Start

August 20, 2018

Primary Completion

February 28, 2021

Study Completion

February 28, 2021

Last Updated

February 13, 2023

Record last verified: 2023-02

Locations

IN(2)SR(1)DE(1)