B7 Coreceptor Molecules in Hyper IgD Syndrome Form of Mevalonate Kinase Deficiency

Withdrawn

• Conditions: Hyper IgD Syndrome; Mevalonate Kinase Deficiency

• Registration Number: NCT01568736
• Lead Sponsor: Michigan Technological University

Brief Summary

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.

Detailed Description

Not available

Study Timeline

• Status Verified: 2012-03
• Study Start: 2012-03
• Study First Submitted: 2012-03-29
• Study First Submitted QC: 2012-03-30
• Study First Posted: 2012-04-02
• Primary Completion: 2016-03
• Study Completion: 2016-03
• Last Update Submitted: 2018-06-14
• Last Update Posted: 2018-06-18

Recruitment & Eligibility

• Status: WITHDRAWN
• Sex: All
• Target Recruitment: Not specified

Inclusion Criteria

• any race or ethnicity
• diagnosed with HIDS

Exclusion Criteria

• 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

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Trial Locations

Locations (4)

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