Genetic Diagnosis in Inborn Errors of Metabolism

Inborn Errors of metabolism comprise a large number of rare conditions with a collective incidence of around 1/2000 newborns. Many disorders are treatable provided that a correct diagnosis can be established in time, and for many diseases novel therapies are being developed. Without treatment, many of the conditions result in early death or severe irreversible handicaps.

The Centre for Inherited Metabolic Diseases, CMMS at Karolinska university hospital, is an integrated expert center where clinical specialists work closely together with experts in laboratory medicine, combining clinical genetics, clinical chemistry, pediatrics, neurology, and endocrinology. The center serves the whole Swedish population with diagnostics and expert advice on IEM and has a broad arsenal of biochemical investigations designed to detect defects in intermediary metabolism.

Enrolling by Invitation

Interested in participating?

Request Info

Key information

Conditions

Metabolic Disease Brain Diseases Central Nervous System Diseases Epilepsy Epilepsy in Children LHON Metabolic Diseases Mitochondrial Diseases Motor Neuron Disease Nervous System Diseases Neurodegenerative Diseases Neuromuscular Diseases Nutritional and Metabolic Diseases

Sex eligibility

All sexes

Study type

Observational

About this study

Approximately one in two thousand infants is born with a metabolic disorder that often leads to brain damage. By means of high-tech genetic mapping using whole genome sequencing (WGS), the investigators have discovered the molecular foundations for several of these diseases.

For investigation of mitochondrial diseases, mitochondria are isolated from muscle biopsies for analysis of ATP production using a range of substrate combinations, determination of activities of respiratory chain complexes, and analysis of nuclear and mitochondrial DNA.

The center also performs the national neonatal screening program, currently comprising 26 treatable diseases. Dried blood spot samples (DBS) are stored in the phenylketonuria (PKU) biobank, currently (2026) holding around 5 million of Sweden's 10.6 million inhabitants.

Many metabolic disorders, however, lack effective counter-measures.

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

Medical inferral, suspicion metabolic disease incl epilepsy and their relatives

Exclusion criteria

Disease other than metabolic

Treatment and study plan

IEM-EP

Genetic

Data from IEM-inborn error of metabolism cohort of individuals

Primary outcomes

Genetic variant identification using NGS for diagnosis

Time frame: Through study completion, an average of 1 year.

Variant identification in participants investigated at the investigators' clinic, the Centre for Inherited Metabolic Diseases, is an ongoing clinical activity. In many cases where no variant is identified by NGS (next-generation sequencing) using WGS, additional methods are applied, including transcriptomics, proteomics, and various cellular models. More than 400 participants are investigated annually with NGS/WGS at the investigators' clinic.

Sponsors and collaborators

Lead sponsor

Region Stockholm

Other Gov

Collaborators

Karolinska Institutet

Registry information

Official study title

Genetisk Diagnostik Vid medfödda Metabola Sjukdomar

Important dates

Study start: 2008
Primary completion: 2030
Study completion: 2030
First posted: Apr 19, 2024
Registry last updated: May 28, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Published trials that share one or more normalized conditions with this study.

Completed