Geranylgeraniol Supplementation in Patients With Mevalonate Kinase Deficiency, MVK Deficiency (hyperIgD Syndrome)
Status: Recruiting
Intervention Type: Dietary supplement
Study Type: Interventional
Study Phase: Not Applicable
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 might contribute to the autoinflammatory nature of the disease. A pilot study aims to verify the safety and efficacy of the dietary supplement Geranylgeraniol, aiming at a mitigation of isoprenoids deficiency caused by the above-mentioned block in the MVK pathway.
Eligibility
Participation Requirements
Sex: All
Minimum Age: 12
Healthy Volunteers: t
View:
• 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
Contact Information
Primary
Anna Šedivá, Prof
anna.sediva@fnmotol.cz
+420603166112
Backup
Eva Aljamal, Mgr
eva.aljamal@fnmotol.cz
+420601354311
Time Frame
Start Date: 2022-01-25
Estimated Completion Date: 2025-12-31
Participants
Target number of participants: 6
Treatments
Experimental: patients with MVK deficiency
patients fulfilling inclusion criteria
Related Therapeutic Areas
Sponsors
Collaborators: Washington University School of Medicine
Leads: University Hospital, Motol