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

NCT01568736 | Withdrawn DMC

• 1 other identifier: STAIR 7003
• Study Type: observational
• Target: N/A
• Locations: 2 countries
• Sites: 4

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.

Conditions

Hyper IgD Syndrome; Mevalonate Kinase Deficiency

Keywords

Hyper IgD Syndrome (HIDS); Mevalonate Kinase Deficiency (MKD)

Eligibility Criteria

• Age: 18 Years - 89 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Subjects with Hyper IgD Syndrome (HIDS)

You may qualify if:

• any race or ethnicity
• diagnosed with HIDS

You may not qualify if:

• 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

Sponsors & Collaborators

• Michigan Technological University: lead

Study Sites (4)

Michigan Techinical University

Houghton, Michigan, 49931, United States

Location

University of Nebraska Medical Center

Omaha, Nebraska, 68198, United States

Location

Oregon Health & Science University

Portland, Oregon, 97239, United States

Location

Radbound University of Nijmegen Medical Centre

Nijmegen, Netherlands

Location

Biospecimen

Retention: SAMPLES WITH DNA

Blood Urine

MeSH Terms

Conditions

Mevalonate Kinase Deficiency

Condition Hierarchy (Ancestors)

Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Hypergammaglobulinemia; Blood Protein Disorders; Hematologic Diseases; Hemic and Lymphatic Diseases; Hereditary Autoinflammatory Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Metabolism, Inborn Errors; Peroxisomal Disorders; Metabolic Diseases; Nutritional and Metabolic Diseases; Immunoproliferative Disorders; Immune System Diseases

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: March 29, 2012
• First Posted: April 2, 2012
• Study Start: March 1, 2012
• Primary Completion: March 1, 2016
• Study Completion: March 1, 2016
• Last Updated: June 18, 2018

Record last verified: 2012-03

Locations

US (3); NL (1)