Study of the ITK Inhibitor Soquelitinib to Reduce Lymphoproliferation and Improve Cytopenias in Autoimmune Lymphoproliferative Syndrome (ALPS)-FAS Patients

Autoimmune lymphoproliferative syndrome (ALPS) is a rare disorder of the immune system caused by a mutation in the FAS gene. The objective of this study is to determine the efficacy of soquelitinib in reducing spleen volume or target lymph node volume in people with ALPS-FAS.

Contact Information

Office/Contact: Alanvin Orpia, B.S.N.
Phone: 240-669-2935
Email: alanvin.orpia@nih.gov
 

Gene Editing Approach Paves the Way to First-in-Human Clinical Trial for Rare Genetic Disease

Media Type
Article
Publish or Event Date
Research Institution
Massachusetts General Hospital
Short Title
Gene Editing Approach Paves the Way to First-in-Human Clinical Trial for Rare Genetic Disease
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Content Manager

A Phase I Study of Mozobil in the Treatment of Patients With WHIMS

The purpose of this study is to evaluate whether Mozobil is safe and effective to treat neutropenia (low white blood cell count) in patients with WHIMS and to determine an appropriate treatment dose of Mozobil, within currently approved dosage levels.

Contact Information

Office/Contact: For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR)
Phone: 800-411-1222
TTY: TTY dial 711
Email: ccopr@nih.gov
 

Send-In Sample Collection to Achieve Genetic and Immunologic Characterization of Primary Immunodeficiencies

The purpose of this study is to test samples from people with a Primary immunodeficiency disorders (PIDs) or people related to someone with a PID to find out what causes PIDs.

Contact Information

Office/Contact: For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR)
Phone: 800-411-1222
TTY: TTY8664111010
Email: prpl@cc.nih.gov
 

Empagliflozin as a Treatment for Severe Congenital Neutropenia Due to G6PC3 Deficiency

The purpose of this study is to see if a drug called empagliflozin can help people with severe congenital neutropenia (SCN).

Contact Information

Office/Contact: OPR Office of Patient Recruitment
Phone: 800-411-1222
Email: ccopr@nih.gov
 

Study of Autoimmune Lymphoproliferative Syndrome (ALPS)

The purpose of the protocol is to allow for patients, and relatives of patients, who may have the newly described autoimmune lymphoproliferative syndrome, to be evaluated at the NIH Clinical Center.

Contact Information

Office/Contact: For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR)
Phone: 800-411-1222
TTY: TTY dial 711
Email: ccopr@nih.gov
 

Immune Regulation in Patients With Common Variable Immunodeficiency and Related Syndromes

This study will explore the cause of immunodeficiency in common variable immunodeficiency (CVI) and other related immunodeficiency syndromes-IgA deficiency, hyper IgM syndrome, thymoma and agammaglobulinemia, hypogammaglobulinemia associated with Epstein-Barr infection, and others to better focus on how to correct the underlying defect.

Genetic Analysis of Immune Disorders

The purposes of this study are to 1) identify the genes responsible for certain immune disorders, 2) learn about the medical problems they cause, and 3) learn how to predict who is likely to develop these disorders and what the risk is of passing them on to children.

Screening Protocol for Genetic Diseases of Lymphocyte Homeostasis and Programmed Cell Death

The purpose of this study is to determine the biochemical and genetic causes of inherited immune diseases affecting lymphocyte homeostasis.

Contact Information

Office/Contact: For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR)
Phone: 800-411-1222
TTY: TTY dial 711
Email: ccopr@nih.gov
 

Natural History Study of GATA2 Deficiency and Related Disorders

The purpose of this study is to improve understanding of GATA2 deficiency so there can be better diagnostic tests and treatments in the future.