protocolSection identificationModule nctId: NCT06360913, orgStudyIdInfo id: 2023/09AOU/346, briefTitle: Blood Spot and Urine Metabolomic Screening Applied to Rare Diseases, acronym: BUSARD, statusModule overallStatus: RECRUITING, startDateStruct date: 2024-01-03, primaryCompletionDateStruct date: 2028-01, completionDateStruct date: 2028-01, studyFirstPostDateStruct date: 2024-04-11, lastUpdatePostDateStruct date: 2024-04-12, sponsorCollaboratorsModule leadSponsor name: Cliniques universitaires Saint-Luc- Université Catholique de Louvain, class: OTHER, descriptionModule briefSummary: 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, conditionsModule conditions: Inborn Errors of Metabolism, conditions: Rare Diseases, designModule studyType: INTERVENTIONAL, phases: NA, designInfo allocation: NA, interventionModel: SINGLE_GROUP, interventionModelDescription: 3 groups:1. Control subjects2. Confirmed patients (rare diseases)3. Suspected patients (rare diseases), primaryPurpose: DIAGNOSTIC, maskingInfo masking: NONE, enrollmentInfo count: 2286, type: ESTIMATED, armsInterventionsModule interventions name: High resolution mass spectrometry, outcomesModule primaryOutcomes measure: Uncover new biomarkers in dried blood spots and urines samples able to improve the diagnosis of rare diseases, eligibilityModule sex: ALL, minimumAge: 1 Day, maximumAge: 99 Years, stdAges: CHILD, stdAges: ADULT, stdAges: OLDER_ADULT, contactsLocationsModule locations facility: Hôpital Universitaire des enfants Reine Fabiola (HUDERF-ULB), status: NOT_YET_RECRUITING, city: Brussels, zip: B-1020, country: Belgium, contacts name: Lionel Marcélis, MSc, Ph.D., role: PRINCIPAL_INVESTIGATOR, contacts name: Aurélie Empain, M.D., Ph.D., role: PRINCIPAL_INVESTIGATOR, contacts name: Corinne De Laet, M.D., Ph.D., role: SUB_INVESTIGATOR, contacts name: Ebru Surgun, M.D., role: SUB_INVESTIGATOR, contacts name: Céline Morelli, M.D., role: SUB_INVESTIGATOR, geoPoint lat: 50.85045, lon: 4.34878, locations facility: Cliniques universitaires Saint Luc, status: RECRUITING, city: Brussels, zip: B-1200, country: Belgium, contacts name: Joseph P. Dewulf, M.D., Ph.D., role: PRINCIPAL_INVESTIGATOR, contacts name: Marie-Cécile Nassogne, M.D., Ph.D., role: PRINCIPAL_INVESTIGATOR, contacts name: Xavier Stephenne, M.D., Ph.D., role: SUB_INVESTIGATOR, contacts name: Nicole Revencu, M.D., Ph.D., role: SUB_INVESTIGATOR, contacts name: Stéphanie Paquay, M.D., role: SUB_INVESTIGATOR, geoPoint lat: 50.85045, lon: 4.34878, locations facility: Institut de Pathologie et de Génétique (IPG), status: NOT_YET_RECRUITING, city: Charleroi, zip: B-6041, country: Belgium, contacts name: Dominique Roland, M.D., role: PRINCIPAL_INVESTIGATOR, contacts name: Damien Lederer, M.D., Ph.D., role: SUB_INVESTIGATOR, contacts name: Isabelle Maystadt, M.D., Ph.D., role: SUB_INVESTIGATOR, geoPoint lat: 50.41136, lon: 4.44448, locations facility: CHU Liege, status: NOT_YET_RECRUITING, city: Liège, zip: B-4000, country: Belgium, contacts name: François-Guillaume Debray, MD PhD, role: PRINCIPAL_INVESTIGATOR, contacts name: François Boemer, Pharm D PhD, role: PRINCIPAL_INVESTIGATOR, contacts name: Caroline Dadoumont, MD, role: SUB_INVESTIGATOR, geoPoint lat: 50.63373, lon: 5.56749, hasResults: False