Working…
COVID-19 is an emerging, rapidly evolving situation.
Get the latest public health information from CDC: https://www.coronavirus.gov.

Get the latest research information from NIH: https://www.nih.gov/coronavirus.
ClinicalTrials.gov
ClinicalTrials.gov Menu

Biomarkers for Inborn Errors of Metabolism (BioMetabol)

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.
 
ClinicalTrials.gov Identifier: NCT04098198
Recruitment Status : Recruiting
First Posted : September 23, 2019
Last Update Posted : April 30, 2020
Sponsor:
Information provided by (Responsible Party):
Centogene AG Rostock

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

Condition or disease
Inborn Errors of Metabolism Biomarker

Detailed Description:

Inborn Errors of Metabolism (IEM) are a large group of congenital metabolic disorders, resulting from the absence or abnormality of an enzyme or its cofactor and leading to either accumulation or deficiency of a specific metabolite. More than 800 IEM have been described in the literature, with a widely accepted classification focusing on the main substrate which is affected.

Clinical phenotypes of IEM are broad and often non-specific, mimicking more common conditions, and the onset of symptoms can occur at any age, from fetus to adult. Peroxisomal and lysosomal storage disorders, for example, often have characteristic clinical features and permanent, progressive symptoms that are independent of triggering events (e.g. anemia, thrombocytopenia, and hepatomegaly in a child of Ashkenazi-Jewish ancestry is suggestive of Gaucher disease) 6. More common findings include hypoketotic hypoglycemia, lactic acidosis, metabolic acidosis, ketosis, hyperammonemia, or other metabolic acidosis in combination with hyperammonemia.

The goal of treatment for participants with IEM are the prevention of further accumulation of harmful substances, correction of metabolic abnormalities, and elimination of toxic metabolites. Most participants suffering for rare metabolic diseases start with very severe phenotypes and with rapid progression of the disease that often leads to irreversible damage of their organs. A quick diagnosis is necessary for urgent treatment.

Biomarkers serve as measurable indicators of normal biological or pathological processes. They are typically directly linked to genetic variants in specific genes and can predict, diagnose, monitor and assess the severity of a disease.

CENTOGENE has an outstanding experience regarding the investigation and development of biomarkers for IEM. Given the large amount of participants CENTOGENE is facing and diagnosing, it has a big repertoire of samples to use for the biomarker characterization. This led for example to the identification of Lyso-Gb1 as a novel biomarker for Gaucher disease orLyso-SM509 for Niemann-Pick Disease. The established workflows and gained knowledge for the biomarker development at CENTOGENE will enhance the search for new biomarkers of other IEM.

It is the goal of this study to identify, validate, and monitor biochemical markers from affected participants for Inborn Errors of Metabolism.

Layout table for study information
Study Type : Observational
Estimated Enrollment : 1000 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: Biomarkers for Inborn Errors of Metabolism: An International, Multicenter, Observational, Longitudinal Protocol
Actual Study Start Date : August 1, 2019
Estimated Primary Completion Date : December 1, 2023
Estimated Study Completion Date : December 1, 2023

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



Primary Outcome Measures :
  1. Identification of biomarkers for Inborn Errors of Metabolism [ Time Frame: 2 years ]
    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.


Secondary Outcome Measures :
  1. Exploring the clinical robustness, specificity, and long-term variability of biomarkers for Inborn Errors of Metabolism [ Time Frame: 2 years ]
    Samples will be analyzed for the identified biomarker candidates 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.


Biospecimen Retention:   Samples With DNA
Blood sample applied on the Dry Blood Spot (DBS) Filtercard (Centocard®)


Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.


Layout table for eligibility information
Ages Eligible for Study:   2 Months to 50 Years   (Child, Adult)
Sexes Eligible for Study:   All
Sampling Method:   Non-Probability Sample
Study Population
Participants with an Inborn Error of Metabolism
Criteria

Inclusion Criteria:

  • 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

Exclusion Criteria:

  • 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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT04098198


Contacts
Layout table for location contacts
Contact: Volha Skrahina, PhD +49 (0)38180113594 Volha.Skrahina@centogene.com

Locations
Layout table for location information
Egypt
Ain Shams University Recruiting
Cairo, Egypt
Contact: Omnia El Rashidy, MD    +20 (0)1222164876    omniarashidy@hotmail.com   
Contact    +20 (0)0224512900    draghdaz@gmail.com   
Principal Investigator: Omnia El Rashidy, MD         
Children's Hospital, Faculty of Medicine, Ain Shams University Recruiting
Cairo, Egypt
Contact: Hoda Tomoum, MD    +20 (0)0224156526    hodatomoum@gmail.com   
Contact       mennahshata@gmail.com   
Principal Investigator: Hoda Tomoum, MD         
India
Amrita Institute of Medical Sciences Recruiting
Kerola, India, 682041
Contact: Sheela Nampoothiri, MD    +91 (0)9447978222    sheelanampoothiri@aims.amrita.edu   
Contact    +91 (0)4842851234      
Principal Investigator: Sheela Nampoothiri, MD         
Navi Mumbai Institute of Research In Mental And Neurological Handicap (NIRMAN) Recruiting
Mumbai, India, 400705
Contact: Anil Jalan, MD    +91 (0)2267910237    jalananil12@gmail.com   
Principal Investigator: Anil Jalan, MD         
Lithuania
Children's hospital, Vilnius University Hospital Santaros klinikos Recruiting
Vilnius, Lithuania, O8406
Contact: Rimante Cerkauskiene, MD    +37 (0)063009244    rimante.cerkauskiene@gmail.com   
Principal Investigator: Rimante Cerkauskiene, MD         
Morocco
Children Hospital (gastroenterology department) Not yet recruiting
Rabat, Morocco, 10100
Contact: Nezha Mouane, MD    +21 (0)2537670294    nezhamouane@hotmail.com   
Principal Investigator: Nezha Mouane, MD         
Sri Lanka
Lady Ridgeway Hospital for Children Recruiting
Colombo, Sri Lanka, 00800
Contact: Eresha Jasinge, MD    +94 (0)712793328    eresha.jasinge@gmail.com   
Contact    +94 (0)714040998    chempath.lrh@gmail.com   
Principal Investigator: Eresha Jasinge, MD         
Sponsors and Collaborators
Centogene AG Rostock
Investigators
Layout table for investigator information
Principal Investigator: Arndt Rolfs, Prof. Dr. Centogene AG Rostock
Additional Information:
Layout table for additonal information
Responsible Party: Centogene AG Rostock
ClinicalTrials.gov Identifier: NCT04098198    
Other Study ID Numbers: BioMetabol
First Posted: September 23, 2019    Key Record Dates
Last Update Posted: April 30, 2020
Last Verified: April 2020
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

Layout table for additional information
Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by Centogene AG Rostock:
Inborn Error of Metabolism
Biomarker
Additional relevant MeSH terms:
Layout table for MeSH terms
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Metabolic Diseases