Biomarkers for Inborn Errors of Metabolism (BioMetabol)
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|ClinicalTrials.gov Identifier: NCT04098198|
Recruitment Status : Recruiting
First Posted : September 23, 2019
Last Update Posted : April 30, 2020
|Condition or disease|
|Inborn Errors of Metabolism Biomarker|
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 Type :||Observational|
|Estimated Enrollment :||1000 participants|
|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|
Participants with an Inborn Error of Metabolism
Participants diagnosed with an Inborn Error of Metabolism aged between 2 months to 50 years
- 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.
- 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
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT04098198
|Contact: Volha Skrahina, PhD||+49 (0)38180113594||Volha.Skrahina@centogene.com|
|Ain Shams University||Recruiting|
|Contact: Omnia El Rashidy, MD +20 (0)1222164876 firstname.lastname@example.org|
|Contact +20 (0)0224512900 email@example.com|
|Principal Investigator: Omnia El Rashidy, MD|
|Children's Hospital, Faculty of Medicine, Ain Shams University||Recruiting|
|Contact: Hoda Tomoum, MD +20 (0)0224156526 firstname.lastname@example.org|
|Principal Investigator: Hoda Tomoum, MD|
|Amrita Institute of Medical Sciences||Recruiting|
|Kerola, India, 682041|
|Contact: Sheela Nampoothiri, MD +91 (0)9447978222 email@example.com|
|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 firstname.lastname@example.org|
|Principal Investigator: Anil Jalan, MD|
|Children's hospital, Vilnius University Hospital Santaros klinikos||Recruiting|
|Vilnius, Lithuania, O8406|
|Contact: Rimante Cerkauskiene, MD +37 (0)063009244 email@example.com|
|Principal Investigator: Rimante Cerkauskiene, MD|
|Children Hospital (gastroenterology department)||Not yet recruiting|
|Rabat, Morocco, 10100|
|Contact: Nezha Mouane, MD +21 (0)2537670294 firstname.lastname@example.org|
|Principal Investigator: Nezha Mouane, MD|
|Lady Ridgeway Hospital for Children||Recruiting|
|Colombo, Sri Lanka, 00800|
|Contact: Eresha Jasinge, MD +94 (0)712793328 email@example.com|
|Contact +94 (0)714040998 firstname.lastname@example.org|
|Principal Investigator: Eresha Jasinge, MD|
|Principal Investigator:||Arndt Rolfs, Prof. Dr.||Centogene AG Rostock|