Clinical trial NCT06497829: Geranylgeraniol Supplementation in Patients With Mevalonate Kinase Deficiency
Official title: Geranylgeraniol Supplementation in Patients With Mevalonate Kinase Deficiency, MVK Deficiency (hyperIgD Syndrome)
Study type: INTERVENTIONAL
Overall status: RECRUITING
Phase: NA
Conditions: Mevalonate Kinase Deficiency
Keywords: immunoglobulin D
mevalonate kinase
isoprenoids
geranylgeraniol
Lead sponsor: University Hospital, Motol
Sponsor class: OTHER
Collaborators: name: Washington University School of Medicine
First posted: 2024-07-12
Enrollment: 6
Sex: ALL
Minimum age (years): 12
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: yes
Allocation: NA
Intervention model: SINGLE_GROUP
Intervention model description: Patients with MVK deficiency compared to healthy controls and to subjects on statin therapy (statins target the same metabolic pathway)
Primary purpose: OTHER

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 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).

Eligibility criteria: Inclusion Criteria:

* 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 Criteria:

• Children below 12 years

Primary outcomes:
measure: Change in inflammatory parameters
timeFrame: 3 monhts of intervention
Secondary outcomes:
measure: Change in the clinical status of patients
timeFrame: 3 months
Other outcomes:
Locations:
city: Prague
country: Czechia
facility: University Hospital, Motol
Study officials:
affiliation: University Hospital, Motol
name: Anna Šedivá, Mgr
role: PRINCIPAL_INVESTIGATOR
References: