Inborn Errors of MetabolismBioMetabolNCT04098198
Biomarkers for Inborn Errors of Metabolism
An observational study of Inborn Errors of Metabolism and Biomarker, run by CENTOGENE GmbH Rostock at 13 sites in 8 countries.
Trial 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 Read more about this study
- Who is it for?
- Ages 2 months to 50 years
- Conditions the study is for
- Inborn Errors of Metabolism, Biomarker
- How many people
- 462 participants
- Where
- 13 sitesin 8 countries
- Study dates
- 1 Aug 2019to 11 Mar 2022
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 2 months to 50 years
- All sexes
- Child, Adult
Study population: Participants with an Inborn Error of Metabolism
Who may be able to join
- 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
Who cannot join
- 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
Trial locations and contacts
13 sites in 8 countries.
13 sites in 8 countries
Egypt6 sites
Department of Clinical Genetics, Alexandria University Children's Hospital
Alexandria, 21131
Department of Pediatrics, Alexandria University Children's Hospital
Alexandria, 21131
Department of Medical Genetics ,Faculty of Medicine, Ain Shams University
Cairo, 11566
Ain Shams University
Cairo
Children's Hospital, Faculty of Medicine, Ain Shams University
Cairo
Pediatrics Departmnet, Tanta University
Tanta, 31527
Georgia1 site
Department of Molecular and Medical Genetics , Tbilisi State Medical University
Tbilisi, 0177
Lithuania1 site
Children's hospital, Vilnius University Hospital Santaros klinikos
Vilnius, O8406
Pakistan1 site
Departmnet of Pediatric Gastroenterology and Hepatology, The Children's Hospital and Institute of Child Health
Lahore, 54600
Romania1 site
Emergency Hospital for Children "Louis Turcanu"
Timișoara, 300011
About this study
Official title: Biomarkers for Inborn Errors of Metabolism: An International, Multicenter, Observational, Longitudinal Protocol
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
Read the 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.
- Conditions
- Inborn Errors of Metabolism, Biomarker
- Keywords
- Inborn Error of Metabolism, Biomarker
- Medical subject headings
- Metabolism, Inborn Errors
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Participants with an Inborn Error of Metabolism | Participants diagnosed with an Inborn Error of Metabolism aged between 2 months to 50 years |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: 2 years
Secondary outcomes (1)
Exploring the clinical robustness, specificity, and long-term variability of biomarkers for Inborn Errors of Metabolism
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.
Measured: 2 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted23 Sep 2019
- Study start1 Aug 2019
- Primary completion11 Mar 2022
- Study completion11 Mar 2022
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Inborn Errors of MetabolismStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 462 participants (actual)
Sponsor and investigators
- Lead sponsor
- CENTOGENE GmbH Rostock
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
- Investigators
- Peter Bauer, Prof. Dr., Study chair, Centogene GmbH
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04098198
- Sponsor's protocol ID
- BioMetabol
- Acronym
- BioMetabol
- Status last verified
- May 2021
- First submitted
- 23 Aug 2019
- Last updated
- 24 Mar 2022
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 24 Mar 2022. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Biomarkers for Inborn Errors of Metabolism: An International, Multicenter, Observational, Longitudinal Protocol
- ClinicalTrials.gov ID
- NCT04098198
- Acronym / sponsor ID
- BioMetabol / BioMetabol
- Conditions
- Inborn Errors of Metabolism, Biomarker
- Keywords
- Inborn Error of Metabolism, Biomarker
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 462 participants (actual)
- Lead sponsor
- CENTOGENE GmbH RostockIndustry (pharma, biotech, devices)
- Study start
- 1 Aug 2019 (actual)
- Primary completion
- 11 Mar 2022 (actual)
- Study completion
- 11 Mar 2022 (actual)
- First posted
- 23 Sep 2019 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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
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.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Participants with an Inborn Error of Metabolism | – | –Participants diagnosed with an Inborn Error of Metabolism aged between 2 months to 50 years |
Who may qualify
- Ages
- 2 months to 50 years
- Sex
- All
- Age groups
- Child, Adult
- Study population
- Participants with an Inborn Error of Metabolism
Key inclusion criteria (3 listed)
- 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
Key exclusion criteria (4 listed)
- 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
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
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.
1 secondary outcome
Exploring the clinical robustness, specificity, and long-term variability of biomarkers for Inborn Errors of Metabolism
Time frame: 2 years
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 24 Mar 2022.
- CENTOGENE is a rare disease company focused on transforming clinical, genetic, and biochemical data into medical solutions for PatientsLink provided by the sponsor.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Peter Bauer, Prof. Dr. study chair
Centogene GmbH
13 sites in 8 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Inborn Errors of Metabolism and Biomarker, run by CENTOGENE GmbH Rostock at 13 sites in 8 countries.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 3 inclusion and 4 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 24 Mar 2022. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 13 sites in Egypt, Albania, Georgia, India, Lithuania and 3 more countries. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Identification of biomarkers for Inborn Errors of Metabolism (time frame: 2 years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 24 Mar 2022.