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
- Are there results?
- Not yet: the study is under way
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.
- More trials run by Region StockholmThe sponsor's other registered studies.
- 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
Study at a glance
From the registry record, last updated by the sponsor on 28 May 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Genetisk Diagnostik Vid medfödda Metabola Sjukdomar
- ClinicalTrials.gov ID
- NCT06376279
- Acronym / sponsor ID
- 2008/351-31
- Conditions
- Metabolic Disease, Mitochondrial Diseases, Epilepsy in Children, Epilepsy, LHON, Motor Neuron Disease
- Study type
- Observational
- Recruitment status
- Enrolling by invitation
- Enrolment
- 1,000 participants (estimated)
- Lead sponsor
- Region StockholmOther government
- Collaborators
- Karolinska Institutet
- Study start
- 29 Apr 2008 (actual)
- Primary completion
- 31 Dec 2030 (estimated)
- Study completion
- 31 Dec 2030 (estimated)
- First posted
- 19 Apr 2024 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
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 design
- Observational model
- Cohort
- Time perspective
- Cross-sectional
Who may qualify
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- 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.
Key inclusion criteria (1 listed)
- Medical inferral, suspicion metabolic disease incl epilepsy and their relatives
Key exclusion criteria (1 listed)
- Disease other than metabolic
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| IEM-EPData from IEM-inborn error of metabolism cohort of individuals | Genetic | – |
Primary outcome
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.
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 28 May 2026.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Anna Wedell principal investigator
Karolinska University Hospital, Karolinska Institutet
Questions about this trial
What is this clinical trial studying?
An observational study of Metabolic Disease and Mitochondrial Diseases, run by Region Stockholm.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 1 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: enrolling by invitation, as of the sponsor's last update on 28 May 2026. Status can change between updates, so confirm with the study contact before making plans.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Genetic variant identification using NGS for diagnosis (time frame: Through study completion, an average of 1 year.). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 28 May 2026.