Metabolic DiseaseNCT06376279
Genetic Diagnosis in Inborn Errors of Metabolism
An observational study of Metabolic Disease and Mitochondrial Diseases, run by Region Stockholm.
Trial summary
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. Read more about this study
- Who is it for?
- Any ageHealthy volunteers can take part
- Conditions the study is for
- Metabolic Disease, Mitochondrial Diseases, Epilepsy in Children
- What is being tested?
- IEM-EP
- How many people
- 1,000 participants
- Where
- No sites listed yet
- Study dates
- 29 Apr 2008to 31 Dec 2030
- Phase
- Observational
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Study population: Inborn errors of metabolism, a group of around one thousand different monogenic diseases with a wide spectrum of presentation.
Who may be able to join
- Medical inferral, suspicion metabolic disease incl epilepsy and their relatives
Who cannot join
- Disease other than metabolic
About this study
Official title: 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.
Read the 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.
- Conditions
- Metabolic Disease, Mitochondrial Diseases, Epilepsy in Children, Epilepsy, LHON, Motor Neuron Disease
- Being tested
- IEM-EP
- Medical subject headings
- Metabolic Diseases, Mitochondrial Diseases, Epilepsy, Motor Neuron Disease
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
IEM-EPGenetic
Data from IEM-inborn error of metabolism cohort of individuals
What is being measured
The primary outcome is the main question the study is designed to answer.
Genetic variant identification using NGS for diagnosis
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.
Measured: Through study completion, an average of 1 year.
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted19 Apr 2024
- Study start29 Apr 2008
- Primary completion31 Dec 2030 (estimated)
- Study completion31 Dec 2030 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Metabolic DiseaseStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Cross-sectional
- Enrolment
- 1,000 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Region Stockholm
- Sponsor type
- Other government
- Collaborators
- Karolinska Institutet
- Responsible party
- Sponsor
- Investigators
- Anna Wedell, Principal investigator, Karolinska University Hospital, Karolinska Institutet
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06376279
- Sponsor's protocol ID
- 2008/351-31
- Status last verified
- May 2026
- First submitted
- 29 Jan 2024
- Last updated
- 28 May 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No