Status:
RECRUITING
Geranylgeraniol Supplementation in Patients With Mevalonate Kinase Deficiency
Lead Sponsor:
University Hospital, Motol
Collaborating Sponsors:
Washington University School of Medicine
Conditions:
Mevalonate Kinase Deficiency
Eligibility:
All Genders
12+ years
Phase:
NA
Brief Summary
Mevalonate kinase deficiency (HyperIgD syndrome, HIDS) is an inborn error of immunity caused by a block in the mevalonate pathway. The subsequent lack of isoprenoids with antiinflammatory properties m...
Detailed Description
Mevalonate kinase (MVK) deficiency, a rare autosomal recessive disease, significantly impacts metabolism and immunity, leading to mevalonic aciduria in severe cases and hyper-IgD syndrome (HIDS) in pa...
Eligibility Criteria
Inclusion
- Patients older than 12 years with genetically confirmed MVK deficiency
- Overall good clinical status apart from the clinical presentation of the MVK deficiency
- Normal liver tests
- Compliance with the study protocol
Exclusion
- • Children below 12 years
Key Trial Info
Start Date :
January 25 2022
Trial Type :
INTERVENTIONAL
Allocation :
ESTIMATED
End Date :
December 31 2025
Estimated Enrollment :
6 Patients enrolled
Trial Details
Trial ID
NCT06497829
Start Date
January 25 2022
End Date
December 31 2025
Last Update
July 12 2024
Active Locations (1)
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1
University Hospital, Motol
Prague, Czechia, 15006