Biomarker for Homozygous Familial Hypercholesterolemia (BioHoFH)
Stopped: Transition to BioMetabol
Germany, India, Sri Lanka0Started 2018-08-20
Plain-language summary
Development of a new MS-based biomarker for the early and sensitive diagnosis of Homozygous familial Hypercholesterolemia from blood
Who can participate
Age range2 Months
SexALL
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AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.
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
What they're measuring
1
Sequencing of the Homozygous Familial Hypercholesterolemia disease related genes