Characterizing metabolic fingerprints of genetic diseases
Metabolic FingerPrinting
This study looks at the unique metabolic patterns in people with genetic diseases and their family members to help create better ways to diagnose and treat these conditions.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 10000 (estimated) |
| Ages | 2 Months and up |
| Sex | All |
| Sponsor | Arcensus GmbH Industry-sponsored |
| Locations | 5 sites (Tirana and 4 other locations) |
| Trial ID | NCT05305729 on ClinicalTrials.gov |
What this trial studies
The MetaPrint study aims to analyze the metabolic profiles associated with genetic diseases to improve understanding of their physiological status. By identifying unique metabolic fingerprints, the study seeks to develop new diagnostic tools and personalized treatment strategies for affected individuals. Participants include those diagnosed with genetic diseases and their first-degree relatives, with data collected through observational methods without any interventions. The study is designed to enhance knowledge in the field of genetic disorders and their management.
Who should consider this trial
Good fit: Ideal candidates include individuals aged 2 months or older who have been diagnosed with a genetic disease or are first-degree relatives of such individuals.
Not a fit: Patients who are younger than 2 months or do not have a genetic disease will not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to improved diagnostic and treatment options for patients with genetic diseases.
How similar studies have performed: While the approach of characterizing metabolic fingerprints is innovative, similar studies have shown promise in enhancing understanding of genetic diseases.
Eligibility criteria
Show full inclusion / exclusion criteria
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
Where this trial is running
Tirana and 4 other locations
- University Hospital Center Mother Teresa — Tirana, Albania (Recruiting)
- The Children's hospital & Institute of child health — Lahore, Punjab, Pakistan (Recruiting)
- Pakistan Institute of Medical Sciences (PIMS) — Islamabad, Pakistan (Recruiting)
- Children's Hospital & The Institute of Child Health — Multan, Pakistan (Recruiting)
- Khyber institute of Child Health and Children Hospital (KICH) — Peshawar, Pakistan (Recruiting)
Study contacts
- Study coordinator: Volha Skrahina, PhD
- Email: volha.skrahina@arcensus-diagnostics.com
- Phone: +49 172 4182235
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.