Geranylgeraniol Supplementation in Patients With Mevalonate Kinase Deficiency

NCT06497829 | Recruiting

• 1 other identifier: EK-30/22
• Study Type: interventional
• Target: 6
• Locations: 1 country
• Sites: 1

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.

Conditions

Mevalonate Kinase Deficiency

Keywords

immunoglobulin D; mevalonate kinase; isoprenoids; geranylgeraniol

Outcome Measures

Primary Outcomes (1)

• Change in inflammatory parameters

  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.

  3 monhts of intervention

Secondary Outcomes (1)

• Change in the clinical status of patients

  3 months

Study Arms (1)

patients with MVK deficiency

EXPERIMENTAL

patients fulfilling inclusion criteria

Dietary Supplement: geranylgeraniol

Interventions

geranylgeraniol DIETARY_SUPPLEMENT

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

patients with MVK deficiency

Eligibility Criteria

• Age: 12 Years+
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• 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

You may not qualify if:

• Children below 12 years

Sponsors & Collaborators

• University Hospital, Motol: lead
• Washington University School of Medicine: collaborator

Study Sites (1)

University Hospital, Motol

Prague, 15006, Czechia

RECRUITING

MeSH Terms

Conditions

Mevalonate Kinase Deficiency

Interventions

geranylgeraniol

Condition Hierarchy (Ancestors)

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

Study Officials

• Anna Šedivá, Mgr

  University Hospital, Motol

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Anna Šedivá, Prof

CONTACT

+420603166112; anna.sediva@fnmotol.cz

Eva Aljamal, Mgr

CONTACT

+420601354311; eva.aljamal@fnmotol.cz

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Purpose: OTHER
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Prof. Anna Sediva, MD, PhD

Model Details: Patients with MVK deficiency compared to healthy controls and to subjects on statin therapy (statins target the same metabolic pathway)

Study Record Dates

• First Submitted: July 1, 2024
• First Posted: July 12, 2024
• Study Start: January 25, 2022
• Primary Completion: December 31, 2024
• Study Completion: December 31, 2025
• Last Updated: July 12, 2024

Record last verified: 2024-07

Locations

CZ (1)