B7 Coreceptor Molecules in Hyper IgD Syndrome Form of Mevalonate Kinase Deficiency (HIDS-MKD)

Michigan Technological University

Status: Withdrawn

Conditions: Mevalonate Kinase Deficiency; Hyper IgD Syndrome

Study type: Observational

Funder types: Other

Identifiers

NCT01568736

STAIR 7003

Details and patient eligibility

About

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.

Sex: All

Ages: 18 to 89 years old

Volunteers: No Healthy Volunteers

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