Clinical Trial Details
— Status: Completed
Administrative data
| NCT number |
NCT04098198 |
| Other study ID # |
BioMetabol |
| Secondary ID |
|
| Status |
Completed |
| Phase |
|
| First received |
|
| Last updated |
|
| Start date |
August 1, 2019 |
| Est. completion date |
March 11, 2022 |
Study information
| Verified date |
May 2021 |
| Source |
CENTOGENE GmbH Rostock |
| Contact |
n/a |
| Is FDA regulated |
No |
| Health authority |
|
| Study type |
Observational
|
Clinical 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
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.
