Supplementing Geranylgeraniol for Patients with Mevalonate Kinase Deficiency
Geranylgeraniol Supplementation in Patients With Mevalonate Kinase Deficiency, MVK Deficiency (hyperIgD Syndrome)
NA · University Hospital, Motol · NCT06497829
This study is testing whether taking a daily supplement of geranylgeraniol can help improve symptoms for people with mevalonate kinase deficiency.
Quick facts
| Phase | NA |
|---|---|
| Study type | Interventional |
| Enrollment | 6 (estimated) |
| Ages | 12 Years and up |
| Sex | All |
| Sponsor | University Hospital, Motol (other) |
| Locations | 1 site (Prague) |
| Trial ID | NCT06497829 on ClinicalTrials.gov |
What this trial studies
This pilot study investigates the safety and efficacy of geranylgeraniol supplementation in patients with mevalonate kinase deficiency, a rare genetic disorder that disrupts the mevalonate pathway and leads to autoinflammatory responses. The study includes a pre-supplementation period to assess inflammation and clinical status, followed by three months of supplementation with 150 mg of geranylgeraniol daily. The goal is to mitigate the deficiency of isoprenoids that contribute to the disease's symptoms and improve patient outcomes.
Who should consider this trial
Good fit: Ideal candidates are patients aged 12 years and older with genetically confirmed mevalonate kinase deficiency in good clinical status.
Not a fit: Patients under 12 years old will not benefit from this study.
Why it matters
Potential benefit: If successful, this supplementation could reduce inflammation and improve the clinical status of patients with mevalonate kinase deficiency.
How similar studies have performed: While this approach is novel for mevalonate kinase deficiency, similar studies on isoprenoid supplementation have shown promise in related conditions.
Eligibility criteria
Show full inclusion / exclusion 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
Where this trial is running
Prague
- University Hospital, Motol — Prague, Czechia (RECRUITING)
Study contacts
- Principal investigator: Anna Šedivá, Mgr — University Hospital, Motol
- Study coordinator: Anna Šedivá, Prof
- Email: anna.sediva@fnmotol.cz
- Phone: +420603166112
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.
Conditions: Mevalonate Kinase Deficiency, immunoglobulin D, mevalonate kinase, isoprenoids, geranylgeraniol