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

Mevalonate Kinase Deficiency Clinical Trial

— HIDS-MKD  

Official title:

B7 Coreceptor Molecules as Clinically-Relevant Surrogate Biomarkers in the Hyper IgD Syndrome (HIDS) Form of Mevalonate Kinase Deficiency (MKD)

Clinical Trial Details — Status: Withdrawn

Administrative data

• NCT number: NCT01568736
• Other study ID #: STAIR 7003
• Status: Withdrawn
• Start date: March 2012
• Est. completion date: March 2016

Study information

• Verified date: March 2012
• Source: Michigan Technological University
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

Recruitment information / eligibility

• Status: Withdrawn
• Enrollment: 0
• Est. completion date: March 2016
• Est. primary completion date: March 2016
• Accepts healthy volunteers: No
• Gender: All
• Age group: 18 Years to 89 Years

Eligibility

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

Related Conditions & MeSH terms

• Hyper IgD Syndrome
• Mevalonate Kinase Deficiency
• Syndrome

Locations

Country	Name	City	State
Netherlands	Radbound University of Nijmegen Medical Centre	Nijmegen
United States	Michigan Techinical University	Houghton	Michigan
United States	University of Nebraska Medical Center	Omaha	Nebraska
United States	Oregon Health & Science University	Portland	Oregon

Sponsors (1)

Lead Sponsor	Collaborator
Michigan Technological University

Countries where clinical trial is conducted

United States,  Netherlands,