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

This study is currently recruiting participants. (see Contacts and Locations)
Verified March 2012 by Michigan Technological University
Information provided by (Responsible Party):
Kenneth Michael Gibson, Michigan Technological University
ClinicalTrials.gov Identifier:
First received: March 29, 2012
Last updated: March 30, 2012
Last verified: March 2012

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.

Hyper IgD Syndrome
Mevalonate Kinase Deficiency

Study Type: Observational
Study Design: Observational Model: Case-Only
Time Perspective: Prospective
Official Title: B7 Coreceptor Molecules as Clinically-Relevant Surrogate Biomarkers in the Hyper IgD Syndrome (HIDS) Form of Mevalonate Kinase Deficiency (MKD)

Resource links provided by NLM:

Further study details as provided by Michigan Technological University:

Biospecimen Retention:   Samples With DNA

Blood Urine

Estimated Enrollment: 10
Study Start Date: March 2012
Estimated Study Completion Date: March 2016
Estimated Primary Completion Date: March 2016 (Final data collection date for primary outcome measure)

Ages Eligible for Study:   18 Years to 89 Years
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population

Subjects with Hyper IgD Syndrome (HIDS)


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
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT01568736

Contact: Anna Simon, MD, PhD +31 24 3618819 A.Simon@aig.umcn.nl

United States, Michigan
Michigan Techinical University Recruiting
Houghton, Michigan, United States, 49931
Contact: K. Michael Gibson, PhD, FACMG    906-487-2738    kmgibson@mtu.edu   
Principal Investigator: K. Michael Gibson, PhD, FACMG         
United States, Nebraska
University of Nebraska Medical Center Recruiting
Omaha, Nebraska, United States, 68198
Contact: William B Rizzo, MD    402-559-2560    wrizzo@unmc.edu   
Principal Investigator: William B Rizzo, MD         
United States, Oregon
Oregon Health & Science University Recruiting
Portland, Oregon, United States, 97239
Contact: Robert Steiner, MD    503-494-2783    steinerr@ohsu.edu   
Contact: Jill Christie, MPAS, PA-C    503-494-4979    chrisjil@ohsu.edu   
Principal Investigator: Robert Steiner, MD         
Radbound University of Nijmegen Medical Centre Recruiting
Nijmegen, Netherlands
Contact: Anna Simon, MD, PhD    +31 24 3618819    A.Simon@aig.umcn.nl   
Principal Investigator: Anna Simon, MD, PhD         
Sponsors and Collaborators
Michigan Technological University
  More Information

No publications provided

Responsible Party: Kenneth Michael Gibson, Professor and Chair, Michigan Technological University
ClinicalTrials.gov Identifier: NCT01568736     History of Changes
Other Study ID Numbers: STAIR 7003
Study First Received: March 29, 2012
Last Updated: March 30, 2012
Health Authority: United States: Institutional Review Board

Keywords provided by Michigan Technological University:
Hyper IgD Syndrome (HIDS)
Mevalonate Kinase Deficiency (MKD)

Additional relevant MeSH terms:
Mevalonate Kinase Deficiency
Blood Protein Disorders
Brain Diseases
Brain Diseases, Metabolic
Brain Diseases, Metabolic, Inborn
Central Nervous System Diseases
Genetic Diseases, Inborn
Hematologic Diseases
Hereditary Autoinflammatory Diseases
Immune System Diseases
Immunoproliferative Disorders
Metabolic Diseases
Metabolism, Inborn Errors
Nervous System Diseases
Peroxisomal Disorders

ClinicalTrials.gov processed this record on March 25, 2015