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Genetic Diagnosis in Inborn Errors of Metabolism

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.
 
ClinicalTrials.gov Identifier: NCT06376279
Recruitment Status : Enrolling by invitation
First Posted : April 19, 2024
Last Update Posted : April 19, 2024
Sponsor:
Collaborator:
Karolinska Institutet
Information provided by (Responsible Party):
Region Stockholm

Study Description
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Brief 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. 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.


Condition or disease Intervention/treatment
Metabolic Disease Mitochondrial Diseases Epilepsy in Children Epilepsy LHON Motor Neuron Disease Genetic: IEM-EP

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), we 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 (2024 january) holding around 4.9 million of Sweden's 10.6 million inhabitants.

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

Study Design
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Study Type : Observational
Estimated Enrollment : 1000 participants
Observational Model: Cohort
Time Perspective: Cross-Sectional
Official Title: Genetisk Diagnostik Vid medfödda Metabola Sjukdomar
Actual Study Start Date : April 29, 2008
Estimated Primary Completion Date : December 31, 2030
Estimated Study Completion Date : December 31, 2030

Resource links provided by the National Library of Medicine


Groups and Cohorts
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Intervention Details:
  • Genetic: IEM-EP
    Data from IEM-inborn error of metabolism cohort of individuals

Outcome Measures
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Primary Outcome Measures :
  1. Genetic variant identification using NGS for diagnosis [ Time Frame: Through study completion, an average of 1 year. ]
    Variant identification in patients investigated at our clinic, Centre for inherited metabolic diseases, is an ongoing clinical activity. In many cases, if no variant is identified with NGS (Next Genenation Sequencing) using WGS, additional methods are used such as transcriptomics, proteomics and different cellmodels. More than 400 patients are investigated yearly with NGS/WGS in our clinic.


Biospecimen Retention:   Samples With DNA
Blood, Muscle biopsy, skin biopsy, fibroblasts, urine

Eligibility Criteria
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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
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.
Criteria

Inclusion Criteria:

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

Exclusion Criteria:

  • Disease other than metabolic
Contacts and Locations
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Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT06376279


Sponsors and Collaborators
Region Stockholm
Karolinska Institutet
Investigators
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Principal Investigator: Anna Wedell Karolinska University Hospital, Karolinska Institutet
More Information
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Responsible Party: Region Stockholm
ClinicalTrials.gov Identifier: NCT06376279    
Other Study ID Numbers: 2008/351-31
First Posted: April 19, 2024    Key Record Dates
Last Update Posted: April 19, 2024
Last Verified: January 2024
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Additional relevant MeSH terms:
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Epilepsy
Motor Neuron Disease
Amyotrophic Lateral Sclerosis
Metabolic Diseases
Mitochondrial Diseases
Brain Diseases
Central Nervous System Diseases
 Nervous System Diseases
Neurodegenerative Diseases
Neuromuscular Diseases
Spinal Cord Diseases
TDP-43 Proteinopathies
Proteostasis Deficiencies