B7 Coreceptor Molecules in Hyper IgD Syndrome Form of Mevalonate Kinase Deficiency
Withdrawn before enrolling
Conditions studied: Hyper IgD Syndrome, Mevalonate Kinase Deficiency
In brief
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.
Key facts
- Study ID
- NCT01568736
- Run by
- Michigan Technological University
- People needed
- 0
- Starts
- 2012-03-01
- Expected to finish
- 2016-03-01
- Last updated by the study team
- 2018-06-18
Who can join
Age: 18 and older, up to 89. Sex: any. Healthy volunteers: not accepted.
You may qualify if…
- any race or ethnicity
- diagnosed with HIDS
You may not qualify if…
- parents' inability to donate blood
- currently having cancer, renal failure, diabetes, liver disease, thyroid diseases, major infectious diseases or immunodeficiency
- pregnancy
- inability to provide consent
Where it is running
- Michigan Techinical University — Houghton, Michigan, United States
- University of Nebraska Medical Center — Omaha, Nebraska, United States
- Oregon Health & Science University — Portland, Oregon, United States
- Radbound University of Nijmegen Medical Centre — Nijmegen, Netherlands
Full record on ClinicalTrials.gov
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