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Blood Spot and Urine Metabolomic Screening Applied to Rare Diseases

NCT06360913 · Status: RECRUITING · Phase: NA · Type: INTERVENTIONAL · Enrollment: 2286

Last updated 2024-04-12

No results posted yet for this study

Summary

The primary goal of this study is to establish a biobank of dried blood spots and urines from a large control cohort and collect several cohorts as large as possible of patients affected or suspected of being affected by rare diseases (mainly hereditary metabolic diseases) or by autism spectrum disorders.

A metabolomic database using a high-resolution mass spectrometer (i.e. the "Device") will be generated and specific biomarkers for the diseases will be confirmed or uncovered. The ultimate goal is to facilitate and improve the diagnosis and screening of the patients affected by these disorders, but also to improve the knowledge about the biochemical mechanisms involved over the course of the selected pathologies.

High-resolution mass spectrometry allows the measurement of thousands of metabolites in a single analysis. The current biochemical tests used for the diagnosis of hereditary metabolic diseases are only using a combination of maximum a few dozens of biomarkers in one analysis.

Objectives Unravel new biomarkers for diagnosis (+/- explore the altered pathways…) Uncover and/or validate newborn screening biomarkers through retrospective analysis of preserved newborn DBS from confirmed patients (useful for first or second tier biochemical NBS testing!) Validation of LC-MS qTOF for metabolomics screening as first line diagnostic test (thousands of metabolites) using diagnostic algorithms (modified z-scores) \& continuous optimization by adding new cases and new controls in the database Generation of a biobank of urines and DBS from rare diseases (IEMs) \& from a large reference population useful for other research applications

Conditions

Interventions

DIAGNOSTIC_TEST

High resolution mass spectrometry

Metabolomics study

Sponsors & Collaborators

  • Cliniques universitaires Saint-Luc- Université Catholique de Louvain

    lead OTHER

Principal Investigators

  • Joseph P Dewulf, M.D., Ph.D. · Cliniques universitaires Saint-Luc- Université Catholique de Louvain

Study Design

Allocation
NA
Purpose
DIAGNOSTIC
Masking
NONE
Model
SINGLE_GROUP

Eligibility

Min Age
1 Day
Max Age
99 Years
Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2024-01-03
Primary Completion
2028-01-31
Completion
2028-01-31

Countries

  • Belgium

Study Locations

More Related Trials

Entities

Diseases

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT06360913 on ClinicalTrials.gov