Blood Spot and Urine Metabolomic Screening Applied to Rare Diseases

NCT06360913 | Recruiting

• 1 other identifier: 2023/09AOU/346
• Study Type: interventional
• Target: 2,286
• Locations: 1 country
• Sites: 4

Brief 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

Inborn Errors of Metabolism; Rare Diseases

Outcome Measures

Primary Outcomes (1)

• Uncover new biomarkers in dried blood spots and urines samples able to improve the diagnosis of rare diseases

  Comparison of metabolics data containing thousands of biomarker candidates obtained by LC-MS-qTOF analysis between rare disease cohorts and age-matched control samples

  4 years

Study Arms (1)

Metabolomics evaluation

EXPERIMENTAL

LC-MS-qTOF analysis of DBS and urine using a combination of methods

Diagnostic Test: High resolution mass spectrometry

Interventions

High resolution mass spectrometry DIAGNOSTIC_TEST

Metabolomics study

Metabolomics evaluation

Eligibility Criteria

• Age: 1 Day - 99 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• 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)

You may not qualify if:

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

Sponsors & Collaborators

• Cliniques universitaires Saint-Luc- Université Catholique de Louvain: lead

Study Sites (4)

Hôpital Universitaire des enfants Reine Fabiola (HUDERF-ULB)

Brussels, B-1020, Belgium

NOT YET RECRUITING

Cliniques universitaires Saint Luc

Brussels, B-1200, Belgium

RECRUITING

Institut de Pathologie et de Génétique (IPG)

Charleroi, B-6041, Belgium

NOT YET RECRUITING

CHU Liege

Liège, B-4000, Belgium

NOT YET RECRUITING

MeSH Terms

Conditions

Metabolism, Inborn Errors; Rare Diseases

Condition Hierarchy (Ancestors)

Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Metabolic Diseases; Nutritional and Metabolic Diseases; Disease Attributes; Pathologic Processes; Pathological Conditions, Signs and Symptoms

Study Officials

• Joseph P Dewulf, M.D., Ph.D.

  Cliniques universitaires Saint-Luc- Université Catholique de Louvain

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Joseph P Dewulf, M.D., Ph.D.

CONTACT

02/7646836; Etdclin.Busard@saintluc.uclouvain.be

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Purpose: DIAGNOSTIC
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Model Details: 3 groups: 1. Control subjects 2. Confirmed patients (rare diseases) 3. Suspected patients (rare diseases)

Study Record Dates

• First Submitted: January 31, 2024
• First Posted: April 11, 2024
• Study Start: January 3, 2024
• Primary Completion (Estimated): January 1, 2028
• Study Completion (Estimated): January 1, 2028
• Last Updated: April 12, 2024

Record last verified: 2024-04

Locations

BE (4)