Genetic Diagnosis in Inborn Errors of Metabolism

Enrolling by invitationOBSERVATIONAL

Enrollment

1,000

Participants

Timeline

Start Date

April 29, 2008

Primary Completion Date

December 31, 2030

Study Completion Date

December 31, 2030

Conditions

Metabolic DiseaseMitochondrial DiseasesEpilepsy in ChildrenEpilepsyLHONMotor Neuron Disease

Interventions

GENETIC

IEM-EP

Data from IEM-inborn error of metabolism cohort of individuals

All Listed Sponsors

collaborator

Karolinska Institutet

OTHER

lead

Region Stockholm

OTHER_GOV

NCT06376279 - Genetic Diagnosis in Inborn Errors of Metabolism | Biotech Hunter | Biotech Hunter