NCT06376279

Genetic Diagnosis in Inborn Errors of Metabolism

Genetisk Diagnostik Vid medfödda Metabola Sjukdomar

• Status: Enrolling By Invitation
• Phase: —
• Study type: Observational
• Enrollment: 1,000 (estimated)
• Sponsor: Region Stockholm · Other Government
• Sex: All
• Age: —
• Healthy volunteers: Accepted

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.

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.

Conditions

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

Interventions

Type	Name	Description
GENETIC	IEM-EP	Data from IEM-inborn error of metabolism cohort of individuals

Timeline

• Start date: 2008-04-29
• Primary completion: 2030-12-31
• Completion: 2030-12-31
• First posted: 2024-04-19
• Last updated: 2024-04-19