Genetic Diagnosis in Inborn Errors of Metabolism

Enrolling by invitation

Conditions studied: Metabolic Disease, Mitochondrial Diseases, Epilepsy in Children, Epilepsy, LHON, Motor Neuron Disease

In brief

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.

Key facts

Study ID

NCT06376279

Run by

Region Stockholm

People needed

1000

Starts

2008-04-29

Expected to finish

2030-12-31

Last updated by the study team

2026-05-28

Who can join

Age: any. Sex: any. Healthy volunteers: accepted.

You may qualify if…

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

You may not qualify if…

• Disease other than metabolic

Full record on ClinicalTrials.gov

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