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

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT01568736
Recruitment Status : Withdrawn (never started)
First Posted : April 2, 2012
Last Update Posted : June 18, 2018
Information provided by (Responsible Party):
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.

Condition or disease
Hyper IgD Syndrome Mevalonate Kinase Deficiency

Study Type : Observational
Actual Enrollment : 0 participants
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)
Study Start Date : March 2012
Estimated Primary Completion Date : March 2016
Estimated Study Completion Date : March 2016

Biospecimen Retention:   Samples With DNA
Blood Urine

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Ages Eligible for Study:   18 Years to 89 Years   (Adult, Older Adult)
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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT01568736

United States, Michigan
Michigan Techinical University
Houghton, Michigan, United States, 49931
United States, Nebraska
University of Nebraska Medical Center
Omaha, Nebraska, United States, 68198
United States, Oregon
Oregon Health & Science University
Portland, Oregon, United States, 97239
Radbound University of Nijmegen Medical Centre
Nijmegen, Netherlands
Sponsors and Collaborators
Michigan Technological University

Responsible Party: Michigan Technological University Identifier: NCT01568736     History of Changes
Other Study ID Numbers: STAIR 7003
First Posted: April 2, 2012    Key Record Dates
Last Update Posted: June 18, 2018
Last Verified: March 2012

Keywords provided by 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