Topics

Biomarkers for Inborn Errors of Metabolism

2019-09-26 05:42:40 | BioPortfolio

Summary

Inborn Errors of Metabolism (IEM) are a large group of congenital metabolic disorders, more than 800 IEM have been described in the literature. 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. Participants with Inborn Errors of Metabolism show elevated levels of specific biomarkers, while the healthy controls show low levels of the same parameters. In the case of affected participants under treatment (e.g. Gaucher), they will show decreased levels compared to the untreated samples. It is the goal of this study to identify, validate, and monitor biochemical markers from affected participants.

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. These disorders are individually rare (incidence ranges from 1:10.000 in phenylketonuria to 1:250.000 in Sly syndrome 5), but collectively numerous (estimated incidence of 1 in 800 live births 5). IEM incidence and prevalence are also region-specific, with an increased frequency where the rate of consanguineous marriages is high. CENTOGENE has developed a comprehensive solution for the fast diagnosis of rare metabolic diseases, that combines genetic (seq. 166 genes) and biochemical testing (biomarker or enzymatic testing) for 147 diseases. CentoMetabolic® was developed specifically for participants suspected to have a metabolic disorder or presenting complex, overlapping symptoms, a metabolic crisis or neurological conditions of unknown etiology.

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. Participants with Inborn Errors of Metabolism show elevated levels of specific biomarkers, while the healthy controls show low levels of the same parameters. In the case of affected participants under treatment (e.g. Gaucher), they will show decreased levels compared to the untreated samples.

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 or Lyso-SM509 for Niemann-Pick Disease 8,9,10,11. 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.

Study Design

Conditions

Inborn Errors of Metabolism

Intervention

Panel of genes, Biomaker or Enzymatic testing

Location

Centogene
Rostock
Germany

Status

Recruiting

Source

Centogene AG Rostock

Results (where available)

View Results

Links

Published on BioPortfolio: 2019-09-26T05:42:40-0400

Clinical Trials [1507 Associated Clinical Trials listed on BioPortfolio]

Retrospective Study of Adult Patients With Inborn Errors of Metabolism in Switzerland

This is a retrospective study aimed at establishing a database of the current health of adult patients with IEM in the French-speaking part of Switzerland. .

Induced Pluripotent Stem Cells for the Development of Novel Drug Therapies for Inborn Errors of Metabolism (iPSC-IEM)

Human induced pluripotent stem cells (iPSCs), are reprogrammed from somatic cells that can self-renew indefinitely and produce different types of cells. They provide human model cell lines...

Compassionate Treatment of Patients With Inborn Errors of Bile Acid Metabolism With Cholic Acid

OBJECTIVES: I. To Evaluate the therapeutic efficacy of cholic acid during provision of compassionate treatment to patients with identified inborn errors of bile acid synthesis and metabo...

Hematopoietic Stem Cell Transplantation (HCT) for Inborn Errors of Metabolism

The primary objective of this clinical trial is to evaluate the ability to achieve and sustain donor engraftment in patients with lysosomal and peroxisomal inborn errors of metabolism unde...

Amniotic Fluid Tandem Mass Spectrometry for Pregnancies Complicated by NIH and Severe Symmetrical IUGR

The objective of this pilot study is to prospectively evaluate amniotic fluid of pregnancies complicated by non-immune hydrops and severe symmetrical intrauterine growth restriction by tan...

PubMed Articles [16094 Associated PubMed Articles listed on BioPortfolio]

Nutrition and medical support during pregnancy and lactation in women with inborn errors of intermediary metabolism disorders (IEMDs).

The establishment of expanded newborn screening (NBS) not only results in the early diagnosis and treatment of neonates with inborn errors of intermediary metabolism disorders (IEMDs) but also helps t...

Inborn errors of enzymes in glutamate metabolism.

Glutamate is involved in a variety of metabolic pathways. We reviewed the literature on genetic defects of enzymes that directly metabolize glutamate, leading to inborn errors of glutamate metabolism....

Psychosocial Effects of Multigene Panel Testing in the Context of Cancer Genomics.

In recent years, with both the development of next-generation sequencing approaches and the Supreme Court decision invalidating gene patents, declining costs have contributed to the emergence of a new...

Hydroxylated long-chain acylcarnitines are biomarkers of mitochondrial myopathy.

Plasma acylcarnitines are biomarkers of beta-oxidation and are useful in diagnosing several inborn errors of metabolism but has never been systematically investigated in patients with mitochondrial my...

Haematopoietic stem cell transplantation for inborn errors of immunity: 25-year experience from University of Malaya Medical Centre, Malaysia.

Inborn errors of immunity (IEI) comprise a heterogeneous group of disorders of the immune system, most of which are curable by haematopoietic stem cell transplantation (HSCT). We present a 25-year aud...

Medical and Biotech [MESH] Definitions

Errors in the metabolism of LIPIDS resulting from inborn genetic MUTATIONS that are heritable.

Errors in metabolic processes resulting from inborn genetic mutations that are inherited or acquired in utero.

Errors in metabolic processing of STEROIDS resulting from inborn genetic mutations that are inherited or acquired in utero.

Dysfunctions in the metabolism of metals resulting from inborn genetic mutations that are inherited or acquired in utero.

Dysfunctions in the metabolism of PURINES or PYRIMIDINES resulting from inborn genetic mutations that are inherited or acquired in utero.

More From BioPortfolio on "Biomarkers for Inborn Errors of Metabolism"

Quick Search

Relevant Topics

Congenital Diseases
Congenital conditions are those which are present from birth. They include structural deformities or loss of function in organs such as the <!--LGfEGNT2Lhm-->heart, gut or skeletal system. They can be corrected by <!--LGfEGNT2Lhm-->surgery, m...

Biological Therapy
Biological therapy involves the use of living organisms, substances derived from living organisms, or laboratory-produced versions of such substances to treat disease. Some biological therapies for cancer use vaccines or bacteria to stimulate the body&rs...


Searches Linking to this Trial