Screening for rare diseases using blood and urine samples

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This study aims to create a biobank of dried blood spots and urine samples from both healthy controls and patients suspected of having rare diseases, particularly hereditary metabolic disorders and autism spectrum disorders. Using high-resolution mass spectrometry, the study will analyze these samples to generate a metabolomic database and identify specific biomarkers associated with these conditions. The ultimate goal is to enhance the diagnosis and understanding of the biochemical mechanisms underlying these rare diseases. Participants will be recruited from multiple centers, and their samples will be collected and sent to a central biobank for analysis.

Why it matters

Who can join: the full rules

Inclusion Criteria:

* Subjects from newborn to elderly, presumably not affected by a rare disease (Group 1) (Newborns: only residual DBS from newborn screening from full-term newborns and with a negative official newborn screening test, de-identified samples not requiring an ICF, no urine sample for this category), OR
* Patients from newborn to elderly, affected by a genetic metabolic disease (genetic confirmation is required) or another confirmed rare disease for which a metabolic derangement is suspected (Group 2), OR
* Patients from newborn to elderly, affected by autism spectrum disorders and evaluated according to the DSMV classification (Group 2), OR
* Patients suspected of being affected by a genetic metabolic disease or another rare disease with potential metabolic derangement (i.e. for which genetic and/or biochemical test(s) are non-conclusive or in progress) (Group 3)

Exclusion Criteria:

* Subjects or patients for which the data required for analysis and assignment in the correct subgroup are lacking
* No informed consent signed

Where it's running

• Cliniques universitaires Saint Luc
  Brussels, Belgium Recruiting
• Hôpital Universitaire des enfants Reine Fabiola (HUDERF-ULB)
  Brussels, Belgium Not yet recruiting
• Institut de Pathologie et de Génétique (IPG)
  Charleroi, Belgium Not yet recruiting
• CHU Liege
  Liège, Belgium Not yet recruiting

Study contacts

• Principal investigator: Joseph P Dewulf, M.D., Ph.D. — Cliniques universitaires Saint-Luc- Université Catholique de Louvain
• Study coordinator: Joseph P Dewulf, M.D., Ph.D.
• Email: Etdclin.Busard@saintluc.uclouvain.be
• Phone: 02/7646836

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.