About this trial
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 criteria
Qualifiers
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
Disqualifiers
None
Trial design
Treatments tested in this trial
- geranylgeraniol
Treatment groups
Sponsors and collaborators
University Hospital, Motol
Lead sponsor
Washington University School of Medicine
Collaborator