Genetic Disease
Conditions
Keywords
Metabolic Fingerprint
Brief summary
The MetaPrint study aims to characterize the metabolic fingerprint of genetic diseases in order to enhance knowledge on the physiological disease status and establish so new tools for diagnosing, monitoring and personalizing treatment of genetic diseases.
Interventions
OTHERNo intervention
No intervention
Sponsors
Arcensus GmbH
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
2 Months to No maximum
Healthy volunteers
No
Inclusion criteria
* Informed consent is obtained from the participant or from the parent/ legal guardian * The participant is 2 months or older * The participant is diagnosed with a genetic disease * The participant is a first degree relative of a subject diagnosed with a genetic disease
Exclusion criteria
* Informed consent is not obtained from the participant or from the parent/ legal guardian * The participant is younger than 2 months * The participant is not diagnosed with a genetic disease * The participant is not a first degree relative of a subject diagnosed with a genetic disease
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Number of newly identified, disease-specific Metabolic Fingerprints | 5 years | Plasma-derived metabolite profiles that are specific for a particular genetic disease in comparison to healthy controls and other genetic diseases |
Countries
Albania, Pakistan
Contacts
Primary ContactVolha Skrahina, PhD
Backup ContactArndt Rolfs, Prof. Dr.
Outcome results
None listed