Participation in a Research Registry for Immune Disorders

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. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details. Identifier: NCT01953016
Recruitment Status : Recruiting
First Posted : September 30, 2013
Last Update Posted : August 9, 2018
National Institute of Allergy and Infectious Diseases (NIAID)
National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
Information provided by (Responsible Party):
National Institutes of Health Clinical Center (CC) ( National Human Genome Research Institute (NHGRI) )

Brief Summary:


- 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.


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


- People who have a PIDD.


  • 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

Condition or disease
Primary Immunodeficiencies GATA2 CGD (Chronic Granulomatous Disease) Wiskott- Aldrich Syndrome ADA-SCID/SCID All Forms

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
Estimated Enrollment : 1000 participants
Time Perspective: Other
Official Title: NIH Participation to USIDNET Registry
Study Start Date : September 25, 2013
Estimated Primary Completion Date : May 1, 2020
Estimated Study Completion Date : May 1, 2020

Primary Outcome Measures :
  1. We will add NHGRI patients enrolled in 00-HG-0209 into a national registry of individuals with primary immune deficiency disorders to discover basic outcome data, ethnic and racial characteristics, kinds of complications etc. of these immune def... [ Time Frame: 8 years ]

Information from the National Library of Medicine

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Ages Eligible for Study:   up to 99 Years   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No

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.


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.

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): NCT01953016

Contact: Elizabeth K Garabedian, R.N. (301) 435-2443

United States, Maryland
National Institutes of Health Clinical Center, 9000 Rockville Pike Recruiting
Bethesda, Maryland, United States, 20892
Contact: For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR)    800-411-1222 ext TTY8664111010   
Sponsors and Collaborators
National Human Genome Research Institute (NHGRI)
National Institute of Allergy and Infectious Diseases (NIAID)
National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
Principal Investigator: Elizabeth K Garabedian, R.N. National Human Genome Research Institute (NHGRI)

Additional Information:
Publications automatically indexed to this study by Identifier (NCT Number):
Responsible Party: National Human Genome Research Institute (NHGRI) Identifier: NCT01953016     History of Changes
Other Study ID Numbers: 130199
First Posted: September 30, 2013    Key Record Dates
Last Update Posted: August 9, 2018
Last Verified: May 29, 2018

Keywords provided by National Institutes of Health Clinical Center (CC) ( National Human Genome Research Institute (NHGRI) ):
ADA-SCID/SCID all forms
Wiskott-Aldrich Syndrome
Primary Immunodeficiencies
CGD (Chronic Granulomatous Disease)

Additional relevant MeSH terms:
Immunologic Deficiency Syndromes
Granulomatous Disease, Chronic
Wiskott-Aldrich Syndrome
Immune System Diseases
Lymphoproliferative Disorders
Lymphatic Diseases
Pathologic Processes
Phagocyte Bactericidal Dysfunction
Leukocyte Disorders
Hematologic Diseases
Genetic Diseases, X-Linked
Genetic Diseases, Inborn
Blood Coagulation Disorders, Inherited
Blood Coagulation Disorders
Hemorrhagic Disorders