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

The recruitment status of this study is unknown. The completion date has passed and the status has not been verified in more than two years.
Verified March 2012 by Kenneth Michael Gibson, Michigan Technological University.
Recruitment status was:  Recruiting
Information provided by (Responsible Party):
Kenneth Michael Gibson, Michigan Technological University 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 Kenneth Michael Gibson, 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   (Adult, Senior)
Sexes Eligible for Study:   All
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 identifier: NCT01568736

Contact: Anna Simon, MD, PhD +31 24 3618819

United States, Michigan
Michigan Techinical University Recruiting
Houghton, Michigan, United States, 49931
Contact: K. Michael Gibson, PhD, FACMG    906-487-2738   
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   
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   
Contact: Jill Christie, MPAS, PA-C    503-494-4979   
Principal Investigator: Robert Steiner, MD         
Radbound University of Nijmegen Medical Centre Recruiting
Nijmegen, Netherlands
Contact: Anna Simon, MD, PhD    +31 24 3618819   
Principal Investigator: Anna Simon, MD, PhD         
Sponsors and Collaborators
Michigan Technological University
  More Information

Responsible Party: Kenneth Michael Gibson, Professor and Chair, Michigan Technological University Identifier: NCT01568736     History of Changes
Other Study ID Numbers: STAIR 7003
Study First Received: March 29, 2012
Last Updated: March 30, 2012

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

Additional relevant MeSH terms:
Hereditary Autoinflammatory Diseases
Mevalonate Kinase Deficiency
Pathologic Processes
Brain Diseases, Metabolic, Inborn
Brain Diseases, Metabolic
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Blood Protein Disorders
Hematologic Diseases
Genetic Diseases, Inborn
Metabolism, Inborn Errors
Peroxisomal Disorders
Metabolic Diseases
Immunoproliferative Disorders
Immune System Diseases processed this record on May 25, 2017