Mevalonate Kinase Deficiency Clinical Trial
Official title:
B7 Coreceptor Molecules as Clinically-Relevant Surrogate Biomarkers in the Hyper IgD Syndrome (HIDS) Form of Mevalonate Kinase Deficiency (MKD)
The hyper IgD syndrome (HIDS) is an inflammatory disease caused by mevalonate kinase
deficiency. There is no cure, and available treatments of HIDS febrile episodes have shown
limited clinical efficacy. The development of effective interventions for HIDS is limited by
our poor understanding of the disease. The goal of the study is to better characterize the
inflammatory response during HIDS episodes and to determine the relationship between this
response and blood and urine markers of mevalonate kinase deficiency. This knowledge will
help us learn more about the cause of the disease and should lead to the identification of
new disease biomarkers that can be used to evaluate clinical efficacy in future therapeutic
trials.
The primary hypothesis is that the costimulatory B7 glycoprotein abnormalities identified in
the murine MKD model will be recapitulated in sera obtained from human HIDS patients, either
before, during or after febrile episodes. The secondary hypothesis is that B7 glycoprotein
molecule levels will correlate with clinical symptomatic severity score, other known
biomarkers of HIDS, markers of inflammation and or markers of isoprenoid metabolism.
n/a
| Status | Clinical Trial | Phase | |
|---|---|---|---|
| Completed |
NCT01303380 -
Canakinumab in Patients With Active Hyper-IgD Syndrome
|
Phase 2 | |
| Terminated |
NCT00260299 -
Dietary Cholesterol and Defects in Cholesterol Synthesis in Mevalonate Kinase Deficiency
|