Genetic Diagnosis in Inborn Errors of Metabolism

NCT06376279 | Enrolling By Invitation

• 1 other identifier: 2008/351-31
• Study Type: observational
• Target: 1,000
• Locations: 0 countries
• Sites: N/A

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.

Conditions

Metabolic Disease; Mitochondrial Diseases; Epilepsy in Children; LHON; Epilepsy; Motor Neuron Disease

Outcome Measures

Primary Outcomes (1)

• 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.

  Through study completion, an average of 1 year.

Interventions

IEM-EP GENETIC

Data from IEM-inborn error of metabolism cohort of individuals

Eligibility Criteria

• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• 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.

You may qualify if:

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

You may not qualify if:

• Disease other than metabolic

Sponsors & Collaborators

• Region Stockholm: lead
• Karolinska Institutet: collaborator

Biospecimen

Retention: SAMPLES WITH DNA

Blood, Muscle biopsy, skin biopsy, fibroblasts, urine

MeSH Terms

Conditions

Metabolic Diseases; Mitochondrial Diseases; Epilepsy; Motor Neuron Disease

Condition Hierarchy (Ancestors)

Nutritional and Metabolic Diseases; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Neurodegenerative Diseases; Neuromuscular Diseases

Study Officials

• Anna Wedell

  Karolinska University Hospital, Karolinska Institutet

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER GOV
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: January 29, 2024
• First Posted: April 19, 2024
• Study Start: April 29, 2008
• Primary Completion (Estimated): December 31, 2030
• Study Completion (Estimated): December 31, 2030
• Last Updated: May 28, 2026

Record last verified: 2026-05

Data Sharing

• IPD Sharing: Will not share