Genetic Diagnosis in Inborn Errors of Metabolism

May 24, 2026 updated by: Region Stockholm

Genetisk Diagnostik Vid medfödda Metabola Sjukdomar

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.

Study Overview

Status

Enrolling by invitation

Conditions

Intervention / Treatment

Detailed Description

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.

Study Type

Observational

Enrollment (Estimated)

1000

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

Yes

Sampling Method

Non-Probability Sample

Study Population

Inborn errors of metabolism, a group of around one thousand different monogenic diseases with a wide spectrum of presentation.

Description

Inclusion Criteria:

  • Medical inferral, suspicion metabolic disease incl epilepsy and their relatives

Exclusion Criteria:

  • Disease other than metabolic

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
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.
Through study completion, an average of 1 year.

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Region Stockholm

Collaborators

Karolinska Institutet

Investigators

  • Principal Investigator: Anna Wedell, Karolinska University Hospital, Karolinska Institutet

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

April 29, 2008

Primary Completion (Estimated)

December 31, 2030

Study Completion (Estimated)

December 31, 2030

Study Registration Dates

First Submitted

January 29, 2024

First Submitted That Met QC Criteria

April 16, 2024

First Posted (Actual)

April 19, 2024

Study Record Updates

Last Update Posted (Actual)

May 28, 2026

Last Update Submitted That Met QC Criteria

May 24, 2026

Last Verified

May 1, 2026

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 2008/351-31

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

NO

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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