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Zoektocht Naar Erfelijke MetaBole Aandoening (Dutch)/ Solve The Unsolved (English)

NCT06200142 · Status: COMPLETED · Phase: NA · Type: INTERVENTIONAL · Enrollment: 334

Last updated 2024-01-10

No results posted yet for this study

Summary

The goal of this clinical trial is to integrate genomic (WES/WGS) and other -omics technologies in order to find the genetic causes, in 500 patients (children and adults) with an unexplained metabolic phenotype in whom standard care (genetic and metabolic evaluation) did not provide a diagnosis. The overall aim of this study is to diagnose patients with an unknown metabolic phenotype. In addition, we want to provide evidence that the combination of approaches and techniques used in this study will increase diagnostic yield compared to current separated approaches.

All participants will undergo a multi-omics(WES, WGS and metabolomics) approach to solve the unsolved genetic basis of their metabolic phenotype.

Conditions

  • Inherited Metabolic Disorders

Interventions

DIAGNOSTIC_TEST

Untargeted metabolomics

Untargeted metabolomics in bloodspots and in plasma

GENETIC

WES and WGS

WES reanalysis and WGS analysis

Sponsors & Collaborators

  • Stichting Metakids

    collaborator UNKNOWN

  • Academisch Medisch Centrum - Universiteit van Amsterdam (AMC-UvA)

    lead OTHER

Principal Investigators

  • Clara DM van Karnebeek, Professor · Amsterdam UMC and United for Metabolic Diseases (UMD)

Study Design

Allocation
NA
Purpose
DIAGNOSTIC
Masking
NONE
Model
SINGLE_GROUP

Eligibility

Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2019-12-10
Primary Completion
2021-12-31
Completion
2021-12-31

Countries

  • Netherlands

Study Locations

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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 NCT06200142 on ClinicalTrials.gov