NCT06497829

Geranylgeraniol Supplementation in Patients With Mevalonate Kinase Deficiency

Geranylgeraniol Supplementation in Patients With Mevalonate Kinase Deficiency, MVK Deficiency (hyperIgD Syndrome)

• Status: Recruiting
• Phase: N/A
• Study type: Interventional
• Enrollment: 6 (estimated)
• Sponsor: University Hospital, Motol · Academic / Other
• Sex: All
• Age: 12 Years
• Healthy volunteers: Accepted

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.

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 partial deficiency. These conditions arise due to disruptions in the mevalonate pathway, which is an essential metabolic pathway responsible for the synthesis of non-sterol isoprenoids and other molecules. The resulting metabolic blockade triggers autoinflammatory responses, primarily due to deficient isoprenoid intermediates such as geranylgeranyl pyrophosphate (GGPP). This study evaluates the safety and efficacy of dietary geranylgeraniol (GG) supplementation in patients with genetically confirmed mevalonate kinase deficiency. The pilot study consists of a month of a pre-supplementation period to monitor the level of inflammation and clinical status in patients with MVK deficiency(HIDS). This period is followed by 3 months of supplementation of 150mg of GeranylGraniol (GG Pure (Extendlife Natural Products) containing GG gold®30 Annatto Extract, 500 mg capsule (30% geranylgeraniol, 150 mg per capsule).

Conditions

• Mevalonate Kinase Deficiency

Interventions

Type	Name	Description
DIETARY_SUPPLEMENT	geranylgeraniol	GG Pure (Extendlife Natural Products) containing GG gold®30 Annatto Extract, 500 mg capsule, use for 3 months, once daily

Timeline

• Start date: 2022-01-25
• Primary completion: 2024-12-31
• Completion: 2025-12-31
• First posted: 2024-07-12
• Last updated: 2024-07-12

Locations

1 site across 1 country: Czechia