Blood Spot and Urine Metabolomic Screening Applied to Rare Diseases

Launched by CLINIQUES UNIVERSITAIRES SAINT-LUC- UNIVERSITÉ CATHOLIQUE DE LOUVAIN · Apr 8, 2024

Keywords

ClinConnect Summary

This clinical trial is focused on understanding rare diseases, particularly those involving metabolism, which are often caused by genetic factors. The main goal is to collect samples of dried blood spots and urine from both healthy individuals and patients suspected of having these rare diseases, including autism spectrum disorders. Researchers will use advanced technology to analyze these samples and identify specific markers, or "biomarkers," that can help improve how we diagnose these conditions. This study aims to enhance our knowledge about the underlying biological processes of these diseases and potentially lead to better screening methods in the future.

Anyone from newborns to elderly individuals may be eligible to participate in this trial. There are three main groups: one group includes healthy individuals, while the other two groups consist of patients who have been confirmed to have a genetic metabolic disease or autism spectrum disorder. Participants can expect to provide blood and urine samples, which will be used for research purposes to help develop better diagnostic tools. It’s important to note that only individuals who are able to provide informed consent for their participation are eligible, and those who lack the necessary data for analysis will not be included in the study.

Gender

ALL

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