Participation in a Research Registry for Immune Disorders

This study is currently recruiting participants. (see Contacts and Locations)
Verified March 2016 by National Institutes of Health Clinical Center (CC)
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) ) Identifier:
First received: September 25, 2013
Last updated: March 25, 2016
Last verified: March 2016


- 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, or are a carrier for one.


  • 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

Adenosine Deaminase Deficiency
Wiskott- Aldrich Syndrome
Primary Immunodeficiencies
Severe Combined Immune Deficiency

Study Type: Observational
Official Title: NIH Participation to USIDNET Registry

Resource links provided by NLM:

Further study details as provided by National Institutes of Health Clinical Center (CC):

Primary Outcome Measures:
  • 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 ] [ Designated as safety issue: No ]

Estimated Enrollment: 600
Study Start Date: September 2013
Estimated Study Completion Date: May 2020
Estimated Primary Completion Date: May 2020 (Final data collection date for primary outcome measure)
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.

Ages Eligible for Study:   up to 99 Years
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No

Individuals of all ages, gender, and races with an immunodeficiency disorder from NIH studies, and their relatives who share the genetic mutation for the disorder 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.

  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: 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 Patient Recruitment and Public Liaison Office (PRPL)    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)
  More Information

Additional Information:
Responsible Party: National Institutes of Health Clinical Center (CC) ( National Human Genome Research Institute (NHGRI) ) Identifier: NCT01953016     History of Changes
Other Study ID Numbers: 130199  13-HG-0199 
Study First Received: September 25, 2013
Last Updated: March 25, 2016
Health Authority: United States: Federal Government

Keywords provided by National Institutes of Health Clinical Center (CC):
Adenosine Deaminase Deficiency
Wiskott Aldrich Syndrome
Severe Combined Immune Deficiency
Primary Immunodeficiency

Additional relevant MeSH terms:
Immunologic Deficiency Syndromes
Severe Combined Immunodeficiency
Wiskott-Aldrich Syndrome
Blood Coagulation Disorders
Blood Coagulation Disorders, Inherited
Blood Protein Disorders
DNA Repair-Deficiency Disorders
Genetic Diseases, Inborn
Genetic Diseases, X-Linked
Hematologic Diseases
Hemorrhagic Disorders
Immune System Diseases
Infant, Newborn, Diseases
Leukocyte Disorders
Lymphatic Diseases
Lymphoproliferative Disorders
Metabolic Diseases processed this record on May 26, 2016