Screening for rare diseases using blood and urine samples

Blood Spot and Urine Metabolomic Screening Applied to Rare Diseases

This study is trying to collect blood and urine samples from people with suspected rare diseases and healthy individuals to see if they can find specific markers that help diagnose conditions like metabolic disorders and autism.

Quick facts

• Phase: NA
• Study type: Interventional
• Enrollment: 2286 (estimated)
• Ages: 1 Day to 99 Years
• Sex: All
• Sponsor: Cliniques universitaires Saint-Luc- Université Catholique de Louvain (other)
• Locations: 4 sites (Brussels and 3 other locations)
• Trial ID: NCT06360913 on ClinicalTrials.gov

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.

Who should consider this trial

Good fit: Ideal candidates include newborns to elderly individuals who are either affected by a genetic metabolic disease, autism spectrum disorders, or suspected of having a rare disease with metabolic implications.

Not a fit: Patients who do not have a rare disease or metabolic disorder and do not fall into the specified groups may not benefit from this study.

Why it matters

Potential benefit: If successful, this study could significantly improve the diagnosis and screening processes for patients with rare metabolic diseases and autism spectrum disorders.

How similar studies have performed: Other studies utilizing metabolomic approaches have shown promise in identifying biomarkers for rare diseases, suggesting that this methodology could be effective.

Eligibility criteria

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 this trial is running

Brussels and 3 other locations

• Hôpital Universitaire des enfants Reine Fabiola (HUDERF-ULB) — Brussels, Belgium (NOT_YET_RECRUITING)
• Cliniques universitaires Saint Luc — Brussels, Belgium (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.

Conditions: Inborn Errors of Metabolism, Rare Diseases