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Biomarker for Homozygous Familial Hypercholesterolemia (BioHoFH)

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ClinicalTrials.gov Identifier: NCT03198897
Recruitment Status : Recruiting
First Posted : June 26, 2017
Last Update Posted : July 26, 2017
Sponsor:
Collaborator:
Centogene AG Rostock
Information provided by (Responsible Party):
Prof. Dr. Arndt Rolfs, University of Rostock

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

Condition or disease
Genetic Disorder Familial Hypercholesterolaemia Lipoprotein Lipase Deficiency Inborn Error of Lipid Metabolism Cardiovascular Disease

  Show Detailed Description

Study Type : Observational
Estimated Enrollment : 20 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: BioHoFH - Biomarker for Homozygous Familial Hypercholesterolemia AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL
Actual Study Start Date : June 1, 2017
Estimated Primary Completion Date : June 2020
Estimated Study Completion Date : July 2020


Group/Cohort
Observation
Patients with a diagnosis of Homozygous familial Hypercholesterolemia based upon biochemical and/or genetic criteria or profound suspicion for Homozygous familial Hypercholesterolemia



Primary Outcome Measures :
  1. The diagnosis of homozygous familial Hypercholesterolemia measured by sequencing of homozygous familial Hypercholesterolemia [ Time Frame: 36 months ]

Secondary Outcome Measures :
  1. Number of correct identified patients with homozygous familial Hypercholesterolemia [ Time Frame: 36 months ]

Biospecimen Retention:   Samples With DNA
For the development of the new biomarker using the technique of Mass-spectometry a dry blood spot filter card are taken. To prove the correct diagnosis in those patients where up to the enrollment in the study no genetic testing has been done, sequencing will be done. The analyses are done in the Centogene AG, Schillingallee 68, 18055 Rostock (Germany)


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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
All patients with a homozygous familial Hypercholesterolemia or patients with high-grade suspicion for a homozygous familial Hypercholesterolemia submitted to the participating centers should be included into the study.
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
Contact: Susanne Zielke +49 381 494 ext 4739 susanne.zielke@med.uni-rostock.de
Contact: Arndt Rolfs, MD +49 381 494 ext 9540 arndt.rolfs@med.uni-rostock.de

Locations
Germany
University of Rostock, Albrecht Kossel Institute Recruiting
Rostock, Germany, 18147
Contact: Arndt Rolfs, MD    49 381494 ext 9540    arndt.rolfs@med.uni-rostock.de   
Contact: Susanne Zielke    49 381 494 ext 4739    susanne.zielke@med.uni-rostock.de   
Principal Investigator: Arndt Rolfs, MD         
India
NIRMA, University of Mumbai Recruiting
Mumbai, India, 400705
Contact: Anil Jalan, MD       jalananil@yahoo.com   
Principal Investigator: Anil Jalan, MD         
Sponsors and Collaborators
University of Rostock
Centogene AG Rostock
Investigators
Principal Investigator: Arndt Rolfs, MD University of Rostock, Albrecht-Kossel-Institute for Neuroregeneration

Additional Information:
Responsible Party: Prof. Dr. Arndt Rolfs, Prof. Dr. med., University of Rostock
ClinicalTrials.gov Identifier: NCT03198897     History of Changes
Other Study ID Numbers: BHFH 04-2017
First Posted: June 26, 2017    Key Record Dates
Last Update Posted: July 26, 2017
Last Verified: July 2017
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Undecided

Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No

Keywords provided by Prof. Dr. Arndt Rolfs, University of Rostock:
high cholesterol levels
low-density lipoprotein
xanthelasma palpebrarum
atherosclerosis
arcus senilis corneae
Primary hyperlipoproteinemia

Additional relevant MeSH terms:
Hypercholesterolemia
Cardiovascular Diseases
Hyperlipoproteinemia Type II
Genetic Diseases, Inborn
Hyperlipoproteinemia Type I
Lipid Metabolism, Inborn Errors
Hyperlipidemias
Dyslipidemias
Lipid Metabolism Disorders
Metabolic Diseases
Metabolism, Inborn Errors
Hyperlipoproteinemias