Mevalonate Kinase DeficiencyNCT06497829
Geranylgeraniol Supplementation in Patients With Mevalonate Kinase Deficiency
A study testing geranylgeraniol in people with Mevalonate Kinase Deficiency, run by University Hospital, Motol at 1 site in Czechia.
Trial 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. Read more about this study
- Who is it for?
- Ages 12 years and olderHealthy volunteers can take part
- Conditions the study is for
- Mevalonate Kinase Deficiency
- What is being tested?
- geranylgeraniol
- Type of treatment
- Pill or oral medicine
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 6 participants
- Where
- 1 siteCzechia
- Study dates
- 25 Jan 2022to 31 Dec 2025
- Phase
- Interventional
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 12 years and older
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Who may be able to join
- 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
Who cannot join
- Children below 12 years
Trial locations and contacts
1 site in 1 country.
Czechia1 site, 1 recruiting
- Recruiting
University Hospital, Motol
Prague, 15006
Anna Šedivá, Prof, +420 603166112, anna.sediva@fnmotol.cz
Eva Aljamal, Mgr, +420 601354311, eva.aljamal@fnmotol.cz
About this study
Official title: Geranylgeraniol Supplementation in Patients With Mevalonate Kinase Deficiency, MVK Deficiency (hyperIgD Syndrome)
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.
Read the 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
- Being tested
- geranylgeraniol
- Keywords
- immunoglobulin D, mevalonate kinase, isoprenoids, geranylgeraniol
- Medical subject headings
- Mevalonate Kinase Deficiency
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
geranylgeraniolDietary supplement
GG Pure (Extendlife Natural Products) containing GG gold®30 Annatto Extract, 500 mg capsule, use for 3 months, once daily
| Study group | Role | What they receive |
|---|---|---|
| patients with MVK deficiency | Experimental | patients fulfilling inclusion criteria Receives: Dietary Supplement: geranylgeraniol |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: 3 monhts of intervention
Secondary outcomes (1)
Change in the clinical status of patients
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.
Measured: 3 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted12 Jul 2024
- Study start25 Jan 2022
- Primary completion31 Dec 2024 (estimated)
- Study completion31 Dec 2025 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Mevalonate Kinase DeficiencyStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Other
- Allocation
- Not applicable
- Intervention model
- Single group
- Model description
- Patients with MVK deficiency compared to healthy controls and to subjects on statin therapy (statins target the same metabolic pathway)
- Masking
- None (open label)
- Enrolment
- 6 participants (estimated)
Sponsor and investigators
- Lead sponsor
- University Hospital, Motol
- Sponsor type
- University, hospital or other
- Collaborators
- Washington University School of Medicine
- Responsible party
- Principal investigator, Anna Sediva, University Hospital, Motol
- Investigators
- Anna Šedivá, Mgr, Principal investigator, University Hospital, Motol
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06497829
- Sponsor's protocol ID
- EK-30/22
- Status last verified
- Jul 2024
- First submitted
- 1 Jul 2024
- Last updated
- 12 Jul 2024
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided: anonymized patient data consisting of clinical and laboratory sets of follow-up parameters are shared with participating researchers
Study at a glance
From the registry record, last updated by the sponsor on 12 Jul 2024. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Geranylgeraniol Supplementation in Patients With Mevalonate Kinase Deficiency, MVK Deficiency (hyperIgD Syndrome)
- ClinicalTrials.gov ID
- NCT06497829
- Acronym / sponsor ID
- EK-30/22
- Conditions
- Mevalonate Kinase Deficiency
- Keywords
- immunoglobulin D, mevalonate kinase, isoprenoids, geranylgeraniol
- Study type
- Interventional
- Recruitment status
- Unknown status
- Enrolment
- 6 participants (estimated)
- Lead sponsor
- University Hospital, MotolUniversity, hospital or other
- Collaborators
- Washington University School of Medicine
- Study start
- 25 Jan 2022 (actual)
- Primary completion
- 31 Dec 2024 (estimated)
- Study completion
- 31 Dec 2025 (estimated)
- First posted
- 12 Jul 2024 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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).
Study design
- Primary purpose
- Other
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
- Model description
- Patients with MVK deficiency compared to healthy controls and to subjects on statin therapy (statins target the same metabolic pathway)
| Arm | Type | Receives |
|---|---|---|
| patients with MVK deficiency | Experimental | Dietary Supplement: geranylgeraniolpatients fulfilling inclusion criteria |
Who may qualify
- Ages
- 12 years and older
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (4 listed)
- 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
Key exclusion criteria (1 listed)
- Children below 12 years
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| geranylgeraniolGG Pure (Extendlife Natural Products) containing GG gold®30 Annatto Extract, 500 mg capsule, use for 3 months, once daily | Dietary supplement | patients with MVK deficiency |
Primary outcome
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.
1 secondary outcome
Change in the clinical status of patients
Time frame: 3 months
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 12 Jul 2024.
- Individual participant dataSharing planned: Undecided. anonymized patient data consisting of clinical and laboratory sets of follow-up parameters are shared with participating researchers
Related trials for Mevalonate Kinase Deficiency
RecruitingObservational study
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Anna Šedivá, Mgr principal investigator
University Hospital, Motol
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing geranylgeraniol in people with Mevalonate Kinase Deficiency, run by University Hospital, Motol at 1 site in Czechia.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 4 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: status not confirmed, as of the sponsor's last update on 12 Jul 2024. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Czechia. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Contact Anna Šedivá, Prof (+420603166112, anna.sediva@fnmotol.cz), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Change in inflammatory parameters (time frame: 3 monhts of intervention). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 12 Jul 2024.