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NCT Number: NCT06497829

Geranylgeraniol Supplementation in Patients With Mevalonate Kinase Deficiency

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.

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Key information

Conditions

Mevalonate Kinase Deficiency Blood Protein Disorders Brain Diseases Brain Diseases, Metabolic Brain Diseases, Metabolic, Inborn Central Nervous System Diseases Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Hematologic Diseases Hemic and Lymphatic Diseases Hereditary Autoinflammatory Diseases Hypergammaglobulinemia Immune System Diseases Immunoproliferative Disorders Metabolic Diseases Metabolism, Inborn Errors Nervous System Diseases Nutritional and Metabolic Diseases Peroxisomal Disorders

Age range

12 year and older

Sex eligibility

All sexes

Study type

Interventional

Phase

Not applicable

Primary location

About this study

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).

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Geranylgeraniol

Dietary Supplement

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

Primary outcomes

  1. Change in inflammatory parameters

    Time frame: 3 monhts of intervention

    Monitoring inflammatory markers before and after intervention - CRP (C reactive protein) and SAA (serum amyloid A) levels will be measured before and after the intervention (time 0 and time 3 months of GG use).

    These values tend to be elevated in patients with MVK deficiency due to their inflammatory status compared to normal values defined in clinical laboratories (UHMotol CRP < 8 mg/l, SAA < 10 mg/l).

    The expected outcome would result in a decrease in inflammatory markers.

Secondary outcomes

  1. Change in the clinical status of patients

    Time frame: 3 months

    Monitoring of general clinical status and defined parameters - general condition, fatigue, fever, skin manifestations, abdominal pain, and headache using a questionnaire. The questionnaire is designed for daily monitoring of the parameters mentioned above. The scale of the questionnaire is from 1 to 10, with 1 being the best, normal condition, and 10 being the worst degree of disability.

Study contacts

Contact information is provided by the study sponsor or research team.

Anna Šedivá, Prof

CONTACT

[email protected]

+420603166112

Eva Aljamal, Mgr

CONTACT

[email protected]

+420601354311

Sponsors and collaborators

Lead sponsor

University Hospital, Motol

Other

Collaborators

  • Washington University School of Medicine

Registry information

Official study title

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

Important dates

Study start
2022
Primary completion
2024
Study completion
2025
First posted
Jul 12, 2024
Registry last updated
Jul 12, 2024

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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