NCT04098198

Brief Summary

International, multicenter, observational, longitudinal study to identify or monitor Inborn Error of Metabolism disease biomarkers and to explore the clinical robustness, specificity, and long-term variability of these biomarkers

Trial Health

93
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
462

participants targeted

Target at P75+ for all trials

Timeline
Completed

Started Aug 2019

Typical duration for all trials

Geographic Reach
8 countries

13 active sites

Status
completed

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Start

First participant enrolled

August 1, 2019

Completed
22 days until next milestone

First Submitted

Initial submission to the registry

August 23, 2019

Completed
1 month until next milestone

First Posted

Study publicly available on registry

September 23, 2019

Completed
2.5 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

March 11, 2022

Completed
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

March 11, 2022

Completed
Last Updated

March 24, 2022

Status Verified

May 1, 2021

Enrollment Period

2.6 years

First QC Date

August 23, 2019

Last Update Submit

March 23, 2022

Conditions

Inborn Errors of MetabolismBiomarker

Keywords

Inborn Error of MetabolismBiomarker

Outcome Measures

Primary Outcomes (1)

  • Identification of biomarkers for Inborn Errors of Metabolism

    All samples will be analyzed for the identification of biomarker/s via Liquid Chromatography Multiple Reaction-monitoring Mass Spectrometry (LC/MRM-MS) and compared to merged control, in order to establish the disease-specific biomarker/s. The LC/MRM-MS is performed on an ABSciex 6500 triple quadrupole mass spectrometer, coupled with a Waters Acquity UPLC.

    2 years

Secondary Outcomes (1)

  • Exploring the clinical robustness, specificity, and long-term variability of biomarkers for Inborn Errors of Metabolism

    2 years

Study Arms (1)

Participants with an Inborn Error of Metabolism

Participants diagnosed with an Inborn Error of Metabolism aged between 2 months to 50 years

Eligibility Criteria

Age2 Months - 50 Years
Sexall
Age GroupsChild (0-17), Adult (18-64)
Sampling MethodNon-Probability Sample
Study Population

Participants with an Inborn Error of Metabolism

You may qualify if:

  • Informed consent is obtained from the participant or from their parent/legal guardian, before any study related procedures
  • The participant aged between 2 months old and 50 years old
  • The diagnosis of an Inborn Error of Metabolism is genetically confirmed

You may not qualify if:

  • Inability to provide informed consent
  • The participant is younger than 2 months old or older than 50 years old
  • The diagnosis of an Inborn Error of Metabolism (IEM) is not genetically confirmed
  • Previously enrolled in the study

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (13)

University Hospital Center Mother Teresa

Tirana, 10001, Albania

Location

Department of Clinical Genetics, Alexandria University Children's Hospital

Alexandria, 21131, Egypt

Location

Department of Pediatrics, Alexandria University Children's Hospital

Alexandria, 21131, Egypt

Location

Department of Medical Genetics ,Faculty of Medicine, Ain Shams University

Cairo, 11566, Egypt

Location

Ain Shams University

Cairo, Egypt

Location

Children's Hospital, Faculty of Medicine, Ain Shams University

Cairo, Egypt

Location

Pediatrics Departmnet, Tanta University

Tanta, 31527, Egypt

Location

Department of Molecular and Medical Genetics , Tbilisi State Medical University

Tbilisi, 0177, Georgia

Location

Amrita Institute of Medical Sciences

Kerola, 682041, India

Location

Children's hospital, Vilnius University Hospital Santaros klinikos

Vilnius, O8406, Lithuania

Location

Departmnet of Pediatric Gastroenterology and Hepatology, The Children's Hospital and Institute of Child Health

Lahore, 54600, Pakistan

Location

Emergency Hospital for Children "Louis Turcanu"

Timișoara, 300011, Romania

Location

Lady Ridgeway Hospital for Children

Colombo, 00800, Sri Lanka

Location

Related Links

Biospecimen

Retention: SAMPLES WITH DNA

Blood sample applied on the Dry Blood Spot (DBS) Filtercard (Centocard®)

MeSH Terms

Conditions

Metabolism, Inborn Errors

Condition Hierarchy (Ancestors)

Genetic Diseases, InbornCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesMetabolic DiseasesNutritional and Metabolic Diseases

Study Officials

  • Peter Bauer, Prof. Dr.

    Centogene GmbH

    STUDY CHAIR

Study Design

Study Type
observational
Observational Model
COHORT
Time Perspective
PROSPECTIVE
Sponsor Type
INDUSTRY
Responsible Party
SPONSOR

Study Record Dates

First Submitted

August 23, 2019

First Posted

September 23, 2019

Study Start

August 1, 2019

Primary Completion

March 11, 2022

Study Completion

March 11, 2022

Last Updated

March 24, 2022

Record last verified: 2021-05

Data Sharing

IPD Sharing
Will not share

Locations

LI(1)PA(1)GE(1)RO(1)AL(1)IN(1)SR(1)EG(6)