Genetic Diagnosis in Inborn Errors of Metabolism
Launched by REGION STOCKHOLM · Apr 16, 2024
Trial Information
Current as of June 26, 2025
Enrolling by invitation
Keywords
ClinConnect Summary
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 progra...
Gender
ALL
Eligibility criteria
- Inclusion Criteria:
- • Medical inferral, suspicion metabolic disease incl epilepsy and their relatives
- Exclusion Criteria:
- • Disease other than metabolic
About Region Stockholm
Region Stockholm is a leading healthcare authority committed to advancing medical research and improving patient care through innovative clinical trials. As a sponsor, Region Stockholm collaborates with hospitals, research institutions, and industry partners to facilitate the development of new therapies and treatment protocols. With a focus on quality, safety, and ethical standards, the organization aims to enhance health outcomes for the diverse population of Stockholm and beyond, leveraging cutting-edge research to translate scientific discoveries into effective healthcare solutions.
Contacts
Jennifer Cobb
Immunology at National Institute of Allergy and Infectious Diseases (NIAID)
Locations
Patients applied
Trial Officials
Anna Wedell
Principal Investigator
Karolinska University Hospital, Karolinska Institutet
Timeline
First submit
Trial launched
Trial updated
Estimated completion
Not reported