Actively Recruiting
Blood Spot and Urine Metabolomic Screening Applied to Rare Diseases
Led by Cliniques universitaires Saint-Luc- Université Catholique de Louvain · Updated on 2024-04-12
2286
Participants Needed
4
Research Sites
N/A
Total Duration
On this page
AI-Summary
What this Trial Is About
This research aims to create a large biobank of dried blood spots and urine samples from healthy individuals and patients with rare diseases, mainly hereditary metabolic disorders and autism spectrum disorders. The study will generate a metabolomic database using high-resolution mass spectrometry to identify and confirm specific biomarkers. The goal is to improve diagnosis, screening, and understanding of the biochemical mechanisms involved in these conditions. Participants will have dried blood spots and urine collected at multiple centers, then shipped to a central biobank for storage and analysis. The study includes three groups: healthy controls, patients with confirmed diagnoses, and patients suspected of having rare diseases. Samples will be analyzed using liquid chromatography coupled to high-resolution mass spectrometry, generating detailed metabolomic data. Multiple samples may be collected over time from some participants. During the study, participants will provide informed consent and complete a medical questionnaire. Samples will be collected, stored at very low temperatures, and analyzed with quality controls. Researchers will review metabolomic profiles and may perform additional biochemical or genetic testing if unusual results arise. The main outcome is to uncover new biomarkers over four years. Participant information will be kept confidential following data protection laws, and the study will run until 2028.
CONDITIONS
Brief Title
Blood Spot and Urine Metabolomic Screening Applied to Rare Diseases
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Subjects from newborn to elderly, presumably not affected by a rare disease (Group 1)
- Newborns in Group 1 must have residual dried blood spots from newborn screening with a negative official test; no urine sample needed for newborns
- Patients from newborn to elderly with a confirmed genetic metabolic disease or another confirmed rare disease with suspected metabolic issues (Group 2)
- Patients diagnosed with autism spectrum disorders according to DSMV classification (Group 2)
- Patients suspected of having a genetic metabolic disease or rare disease with metabolic derangement, but diagnosis not confirmed (Group 3)
- Signed informed consent to participate
You will not qualify if you...
- Lack of data necessary for analysis and correct group assignment
- No signed informed consent
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Your Study Journey
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (in-person) for study explanation, informed consent, and initial sample collection
Duration - Up to 4 years
Participants provide dried blood spot and urine samples which are analyzed using high resolution mass spectrometry to uncover biomarkers and improve diagnosis of rare diseases.
Sample collection occurring at one or multiple visits depending on group assignment and consent for multiple sampling
Trial Site Locations
Total: 4 locations
1
Hôpital Universitaire des enfants Reine Fabiola (HUDERF-ULB)
Brussels, Belgium, B-1020
Not Yet Recruiting
2
Cliniques universitaires Saint Luc
Brussels, Belgium, B-1200
Actively Recruiting
3
Institut de Pathologie et de Génétique (IPG)
Charleroi, Belgium, B-6041
Not Yet Recruiting
4
CHU Liege
Liège, Belgium, B-4000
Not Yet Recruiting
Research Team
J
Joseph P Dewulf, M.D., Ph.D.
How is the study designed?
Study Type
INTERVENTIONAL
Masking
NONE
Allocation
NA
Model
SINGLE_GROUP
Primary Purpose
DIAGNOSTIC
Number of Arms
1
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