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Genetic Diagnosis in Inborn Errors of Metabolism

NCT06376279 · Status: ENROLLING_BY_INVITATION · Type: OBSERVATIONAL · Enrollment: 1000

Last updated 2024-04-19

No results posted yet for this study

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
  • Epilepsy
  • LHON
  • Motor Neuron Disease

Interventions

GENETIC

IEM-EP

Data from IEM-inborn error of metabolism cohort of individuals

Sponsors & Collaborators

Principal Investigators

  • Anna Wedell · Karolinska University Hospital, Karolinska Institutet

Eligibility

Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2008-04-29
Primary Completion
2030-12-31
Completion
2030-12-31

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT06376279 on ClinicalTrials.gov