NCT00266513

Studies of Disorders in Antibody Production and Related Primary Immunodeficiency States

Terminated Last updated 6 October 2017

What this trial tests

trial in Hyper-IgM Syndrome in 119 participants. Terminated before completion.

Timeline

14 December 2005

11 July 2013

Quick facts

Lead sponsor	National Institute of Allergy and Infectious Diseases (NIAID)
Status	Terminated
Study type	OBSERVATIONAL
Enrollment	119
Start date	14 December 2005
Estimated completion	11 July 2013
Sites	1 location across United States

Conditions studied

• Hyper-IgM Syndrome — all drugs for Hyper-IgM Syndrome →
• Ectodermal Dysplasia — all drugs for Ectodermal Dysplasia →

Sponsor

National Institute of Allergy and Infectious Diseases (NIAID)

Who can join

Eligibility, any sex, with Hyper-IgM Syndrome or Ectodermal Dysplasia. Patients with the condition only — healthy volunteers not accepted.

Sponsor's own description

This study investigates gene abnormalities in Primary Immune Deficiency(PID) with a goal of improving the diagnosis and treatment of patients.

The specific disorders include:

1. X linked hyper IgM Syndrome which is caused by an abnormality in the CD40L gene.
2. NEMO associated immune deficiency which is caused by an abnormality in a gene called NEMO.
3. Common variable immunodeficiency (CVID) which has an unknown genetic basis.
4. Other disorders of immunoglobulin production.

This study will:

1. Better characterize the clinical features of CD40 L deficiency and NEMO associated immune deficiency and other related primary immune deficiency syndromes.
2. Determine the frequency of CD40 L and Nemo abnormalities.
3. Determine whether particular abnormalities in these genes are associated with more of less severe illness or with specific symptoms.
4. Explore the basic mechanism by which these altered genes cause immune dysfunction.
5. Identify other genes causing low immune globulin levels and related primary immune deficient states.

Publications & conference data

1 peer-reviewed publication reference this trial (live from Europe PMC):

1. CD40 agonist antibody mediated improvement of chronic Cryptosporidium infection in patients with X-linked hyper IgM syndrome.
   Fan X, Upadhyaya B, Wu L, Koh C, et al · · 2012 · cited 19× · PMID 22459705 · DOI 10.1016/j.clim.2012.01.014