Participation in a Research Registry for Immune Disorders

2015-06-01 23:38:22 | BioPortfolio



- 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


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 Design





National Institutes of Health Clinical Center, 9000 Rockville Pike
United States




National Institutes of Health Clinical Center (CC)

Results (where available)

View Results


Published on BioPortfolio: 2015-06-01T23:38:22-0400

Clinical Trials [27 Associated Clinical Trials listed on BioPortfolio]

Gene Therapy for SCID-X1 Using a Self Lentiviral Vector

This is a Phase I/II clinical trial of gene therapy for X-linked severe combined immunodeficiency (SCID-X1) using a self lentiviral vector to replace the defective genes with good genes. T...

Gene Transfer for ADA-SCID Using an Improved Lentiviral Vector (TYF-ADA)

Gene transfer for ADA-SCID using an improved lentiviral vector (TYF-ADA)

Newborn Screening for Severe Combined Immunodeficiency (SCID) in a High-Risk Population

The goal of the proposed research is to establish the validity of a newborn screening method for severe combined immunodeficiency (SCID). The assay to be used is developed on the basis of...

AMG191 Conditioning/CD34+CD90 Stem Cell Transplant Study for SCID Patients

This is a single-arm, open label, Phase 1 study to assess the safety and tolerability of CD34+CD90+ hematopoietic stem cell (HSC) allografts infused into patients with SCID who are conditi...

Lentiviral Gene Therapy for X-linked Severe Combined Immunodeficiency

Severe combined immunodeficiency disorder (SCID) is a heterogeneous group of inherited disorders characterized by a profound reduction or absence of T lymphocyte function, resulting in lac...

PubMed Articles [68 Associated PubMed Articles listed on BioPortfolio]

Practice Pattern Changes and Improvements in Hematopoietic Cell Transplantation for Primary Immunodeficiencies.

Allogeneic HCT practice patterns for PID changed between 1974-2016. Three-year survival improved to ≥70% for SCID and non-SCID patients after 1999, and further increased to 94% for SCID patients tra...

Lessons for Sequencing from the Addition of Severe Combined Immunodeficiency to Newborn Screening Panels.

Now widely adopted, SCID newborn screening has proven effective for early identification and treatment of SCID. In addition, screening has improved our understanding of SCID and related disorders, whi...

JAK3 mutations in Italian patients affected by SCID: New molecular aspects of a long-known gene.

Mutations in the Janus Kinase 3 (JAK3) gene cause an autosomal recessive form of severe combined immunodeficiency (SCID) usually characterized by the absence of both T and NK cells, but preserved numb...

Novel IL2RG Mutation Causes Leaky TLOWB+NK+ SCID With Nodular Regenerative Hyperplasia and Normal IL-15 STAT5 Phosphorylation.

X-linked severe combined immunodeficiency disease (SCID) is caused by mutations in the interleukin (IL)-2 receptor γ (IL2RG) gene and patients usually present with a TBNK SCID phenotype. Nevertheless...

Efficient derivation of extended pluripotent stem cells from NOD-scid Il2rg mice.

Recently we have established a new culture condition enabling the derivation of extended pluripotent stem (EPS) cells, which, compared to conventional pluripotent stem cells, possess superior developm...

Medical and Biotech [MESH] Definitions

Mice homozygous for the mutant autosomal recessive gene "scid" which is located on the centromeric end of chromosome 16. These mice lack mature, functional lymphocytes and are thus highly susceptible to lethal opportunistic infections if not chronically treated with antibiotics. The lack of B- and T-cell immunity resembles severe combined immunodeficiency (SCID) syndrome in human infants. SCID mice are useful as animal models since they are receptive to implantation of a human immune system producing SCID-human (SCID-hu) hematochimeric mice.

Group of rare congenital disorders characterized by impairment of both humoral and cell-mediated immunity, leukopenia, and low or absent antibody levels. It is inherited as an X-linked or autosomal recessive defect. Mutations occurring in many different genes cause human Severe Combined Immunodeficiency (SCID).

Immunoglobulin preparations used in intravenous infusion, containing primarily IMMUNOGLOBULIN G. They are used to treat a variety of diseases associated with decreased or abnormal immunoglobulin levels including pediatric AIDS; primary HYPERGAMMAGLOBULINEMIA; SCID; CYTOMEGALOVIRUS infections in transplant recipients, LYMPHOCYTIC LEUKEMIA, CHRONIC; Kawasaki syndrome, infection in neonates, and IDIOPATHIC THROMBOCYTOPENIC PURPURA.

More From BioPortfolio on "Participation in a Research Registry for Immune Disorders"

Quick Search


Relevant Topics

Antiretroviral Therapy Clostridium Difficile Ebola HIV & AIDS Infectious Diseases Influenza Malaria Measles Sepsis Swine Flu Tropical Medicine Tuberculosis Infectious diseases are caused by pathogenic...

Allergies Automimmune Disease Human Papillomavirus (HPV) Immunology Vaccine Immunology is the study of immunity and the defence mechanisms of the body. A greater understanding of immunology is needed to develop vaccines, understand ...

Searches Linking to this Trial