Geranylgeraniol Supplementation in Patients With Mevalonate Kinase Deficiency

Trial statusRecruiting
Trial phaseNot applicable
Trial typeInterventional
Biological sexAll
Age12+
SponsorUniversity Hospital, Motol

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

6 Participants
are divided into 1 treatment group

Sponsors and collaborators

University Hospital, Motol

Lead sponsor

Washington University School of Medicine

Collaborator