Participation in a Research Registry for Immune Disorders

NIH Participation to USIDNET Registry

Background:

- People with primary immune deficiency diseases (PIDD) have weak immune systems. This makes it hard for their bodies to fight infection. The Immune Deficiency Foundation has a network to collect data about people with PIDD. It is called the United States Immunodeficiency Network. It will help doctors and scientists better understand these disorders. The goal is to get medical data for everyone with these disorders in the U.S. and Canada. Data will be stored in a registry. Researchers can use it to study if these disorders are increasing. They can also learn how the disorders are diagnosed and treated.

Objectives:

- To collect data on people with primary immune deficiency disorders.

Eligibility:

- People who have a PIDD.

Design:

• Data can be added with no record of personal identity.
• Data can be added with identity kept separate. This data will be linked to the registry by a code number.
• Data for the registry includes:
• Family history
• Disease treatment
• Disease characteristics
• Medical history
• Laboratory data

Study Overview

• Status: Completed
• Conditions: CGD; Wiskott-Aldrich Syndrome; Primary Immunodeficiencies; APECED; SCID

Detailed Description

The purpose of this protocol is to provide a resource for clinical and laboratory research through enrollment of known immunodeficiency patients into a national registry, the US Immunodeficiency Network (USIDNET). The registry data will expand NIH s and the nation s knowledge base about immune deficiency disorders and genetic mutations that lead to these disorders. Additional registrants from NIH protocols will not only increase the understanding of the molecular basis of these disorders, but also will serve to document and track the incidence and progression of complications.

Objectives and specific aims

The purpose of this proposal is to create a mechanism for depositing NIH data into USIDNET. The patient Registry is designed to obtain longitudinal data on a large number of patients with primary immunodeficiency diseases, and genetic carriers of these defects in order to:

• Learn more about the phenotypic variations seen in a large number of individual patients with the same rare molecular diagnosis.
• Determine the natural history of these genetic disorders of immunity and establish genotype-phenotype correlations.
• Learn effects of various treatment protocols used in these patients over time, including unexpected side effects that may be unique to a particular diagnostic group.
• To evaluate quality of life using standard tools and correlate these with genotype and treatment history.
• To promote collaborative research amongst interested investigators by identifying a larger pool of potential research subjects than would be available at their own institutions
• To identify patients with a specific diagnosis for potential participation in multi-institutional clinical trials designed for diagnosis or therapy or their specific disease.

• Study Type: Observational
• Enrollment (Actual): 716

Contacts and Locations

• Study Contact: Name: Elizabeth K Garabedian, R.N.; Phone Number: (301) 435-2443; Email: garabede@mail.nih.gov

Study Locations

• United States
  • Maryland
    • Bethesda, Maryland, United States, 20892
      • National Institutes of Health Clinical Center

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 1 month and older (Child, Adult, Older Adult)
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

Individuals of all ages, gender, and races with an immunodeficiency disorder from NIH studies, will be accepted for registration.@@@

Description

• INCLUSION CRITERIA

Individuals of all ages, gender, and races with an immunodeficiency disorder from NIH studies will be accepted for registration. No healthy volunteers will be enrolled.

EXCLUSION CRITERIA

Individuals with immunodeficiency associated with HIV infection, chemotherapy or other immunosuppressive therapies will not be accepted for registration unless there is clear evidence that these individuals also have a genetically determined immunodeficiency disease as well. Adult individuals who do not give informed consent will also be excluded.

Study Plan

How is the study designed?

Design Details

• Observational Models: Cohort
• Time Perspectives: Other

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort
immunodeficiency; Individuals of all ages, gender, and races with an immunodeficiency disorder from NIH studies, will be accepted for registration.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Prevalence	The Registry will provide a minimum estimate of the prevalence of each disorder in the US, a comprehensive clinical picture of each disorder, and a resource for clinical and laboratory research.	Ongoing

Collaborators and Investigators

• Sponsor: National Human Genome Research Institute (NHGRI)
• Collaborators: National Institute of Allergy and Infectious Diseases (NIAID); National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
• Investigators: Principal Investigator: Elizabeth K Garabedian, R.N., National Human Genome Research Institute (NHGRI)

Publications and helpful links

General Publications

• Ruffner MA; USIDNET Body Weight Group; Sullivan KE. Complications Associated with Underweight Primary Immunodeficiency Patients: Prevalence and Associations Within the USIDNET Registry. J Clin Immunol. 2018 Apr;38(3):283-293. doi: 10.1007/s10875-018-0492-0. Epub 2018 Apr 4.

Helpful Links

• NIH Clinical Center Detailed Web Page

Study record dates

Study Major Dates

• Study Start (Actual): September 30, 2013
• Primary Completion (Actual): May 1, 2020
• Study Completion (Actual): July 19, 2023

Study Registration Dates

• First Submitted: September 25, 2013
• First Submitted That Met QC Criteria: September 25, 2013
• First Posted (Estimated): September 30, 2013

Study Record Updates

• Last Update Posted (Actual): July 20, 2023
• Last Update Submitted That Met QC Criteria: July 19, 2023
• Last Verified: July 1, 2023

More Information

Terms related to this study

• Keywords: Natural History; Primary Immunodeficiency; DOCK8; SCID; GATA2; Job Syndrome/HIES
• Additional Relevant MeSH Terms: Immune System Diseases; Hematologic Diseases; Blood Coagulation Disorders, Inherited; Hemorrhagic Disorders; Genetic Diseases, Inborn; Genetic Diseases, X-Linked; Blood Coagulation Disorders; Leukopenia; Leukocyte Disorders; Lymphopenia; Immunologic Deficiency Syndromes; Primary Immunodeficiency Diseases; Wiskott-Aldrich Syndrome
• Other Study ID Numbers: 130199; 13-HG-0199

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No