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Biomarker for Homozygous Familial Hypercholesterolemia (BioHoFH) (BioHoFH)

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ClinicalTrials.gov Identifier: NCT03198897
Recruitment Status : Recruiting
First Posted : June 26, 2017
Last Update Posted : September 17, 2019
Sponsor:
Information provided by (Responsible Party):
Centogene AG Rostock

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

Condition or disease
Lipoprotein Lipase Deficiency Inborn Error of Lipid Metabolism Corneal Arcus

  Show Detailed Description

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Study Type : Observational
Estimated Enrollment : 1000 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: BioHoFH - Biomarker for Homozygous Familial Hypercholesterolemia AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL
Actual Study Start Date : August 20, 2018
Estimated Primary Completion Date : June 2021
Estimated Study Completion Date : June 2021


Group/Cohort
Observation
Patients with a Homozygous familial Hypercholesterolemia or high-grade suspicion for Homozygous familial Hypercholesterolemia



Primary Outcome Measures :
  1. Sequencing of the Homozygous Familial Hypercholesterolemia disease related genes [ Time Frame: 4 weeks ]
    Next-Generation Sequencing (NGS) of the following genes: LDLR, APoB, PCSK9 and LDLRAP1 will be performed. The mutation will be confirmed by Sanger sequencing.


Secondary Outcome Measures :
  1. The Homozygous familial Hypercholesterolemia specific biomarker candidates finding [ Time Frame: 24 months ]
    The quantitative determination of small molecules (molecular weight 150-700 kD, given as ng/μl) within a dried blood spot sample will be validated via liquid chromatography multiple reaction-monitoring mass spectrometry (LC/MRM-MS) and compared with a merged control cohort. The statistically best validated molecule will be considered as a disease specific biomarker.


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



Information from the National Library of Medicine

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Ages Eligible for Study:   2 Months and older   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Probability Sample
Study Population
Patients with a Homozygous familial Hypercholesterolemia or high-grade suspicion for Homozygous familial Hypercholesterolemia
Criteria

Inclusion Criteria:

  • 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

High grade suspicion present, if one or more inclusion criteria are valid:

  • Positive family anamnesis for a homozygous familial hypercholesterolemia
  • Xanthomas
  • Corneal arcus
  • High levels of plasma cholesterol
  • Manifestations of premature coronary heart disease

Exclusion Criteria:

  • 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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03198897


Contacts
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Contact: Volha Skrahina, Dr +4938180113594 ext 594 volha.skrahina@centogene.com

Locations
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Egypt
Children Hospital, Faculty of Medicine, Cairo University Recruiting
Cairo, Egypt, 11511
Contact: Laila Selim, Prof.         
Germany
Centogene AG Active, not recruiting
Rostock, Germany, 18055
India
Amrita Institute of Medical Sciences & Research Centre Recruiting
Cochin, Kerala, India, 682041
Contact: Sheela Nampoothiri, Dr.         
NIRMAN Navi Mumbai Institute of Research In Mental And Neurological Handicap/Pediatric Geneticist Recruiting
Mumbai, India, 400705
Contact: Anil Jalan, MD         
Sponsors and Collaborators
Centogene AG Rostock
Investigators
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Principal Investigator: Arndt Rolfs, MD Centogene AG Rostock

Additional Information:
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Responsible Party: Centogene AG Rostock
ClinicalTrials.gov Identifier: NCT03198897     History of Changes
Other Study ID Numbers: BHFH 06-2018
First Posted: June 26, 2017    Key Record Dates
Last Update Posted: September 17, 2019
Last Verified: January 2019
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Undecided

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by Centogene AG Rostock:
familial hypercholesterolaemia
Biomarker
Additional relevant MeSH terms:
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Arcus Senilis
Hyperlipoproteinemia Type II
Hyperlipoproteinemia Type I
Lipid Metabolism, Inborn Errors
Hypercholesterolemia
Hyperlipidemias
Dyslipidemias
Lipid Metabolism Disorders
Metabolic Diseases
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Hyperlipoproteinemias
Corneal Opacity
Corneal Diseases
Eye Diseases