Rare Medical News
Severe combined immunodeficiency (SCID)
Severe combined immunodeficiency (SCID) is a group of rare disorders caused by mutations in different genes involved in the development and function of infection-fighting immune cells
Age of Onset
D81.0 D81.1 D81.2 D81.3 D81.9
5 Facts you should know
Persons afflicted with X-SCID often have infections very early in life, before three months of age.
This occurs due to the decreased amount of immunoglobulin G (IgG) levels in the infant during the three-month stage.
This is followed by viral infections such as pneumonitis.
A telltale sign of X-SCID is candidiasis, a type of fungal infection caused by Candida albicans.
Recurrent eczema-like rashes are also a common symptom.
Interest Over Time
Common Signs & Symptoms
Failure to thrive
Recurrent respiratory infections
Infection in blood stream
Severe combined immunodeficiency
Pegademase bovine(Brand name: Adagen)
Manufactured by Lediant Biosciences
FDA-approved indication: March 1990, pegademase bovine (Adagen) was approved for enzyme replacement therapy for ADA deficiency in patients with severe combined immunodeficiency.
National Library of Medicine Drug Information Portal
Elapegademase-lvlr(Brand name: Revcovi)
Manufactured by Leadiant Biosciences, Inc.
FDA-approved indication: October 2018, elapegademase-lvlr (Revcovi) was approved for the treatment of Adenosine Deaminase-Severe Combined Immunodeficiency (ADA-SCID).
Top clinical studies
|Haplocompatible Transplant Using TCRα/β Depletion Followed by CD45RA-Depleted Donor Lymphocyte Infusions for Severe Combined Immunodeficiency (SCID)||In this study, the investigators propose to investigate T and B cell recovery using peripheral blood manipulation that removes potentially Graft-Versus-Host-Disease (GVHD) inducing α/β and CD45RA+ T cells, while still providing potentially beneficial donor γδ and memory T cells.||Phase 1|Phase 2||Recruiting||Drug: Anti-thymocyte globulin (rabbit)|Drug: Busulfan|Drug: Fludarabine|Drug: Thiotepa|Device: CliniMACS|Other: Donor Lymphocyte Infusion||St. Jude Children's Research Hospital, Memphis, Tennessee, United States||More Information|
|Autologous Gene Therapy for Artemis-Deficient SCID||This study aims to determine if a new method can be used to treat Artemis-deficient Severe Combined Immunodeficiency (ART-SCID), a severe form of primary immunodeficiency caused by mutations in the DCLRE1C gene. This method involves transferring a normal copy of the DCLRE1C gene into stem cells of an affected patient. Participants will receive an infusion of stem cells transduced with a self-inactivating lentiviral vector that contains a normal copy of the DCLRE1C gene.||Phase 1|Phase 2||Recruiting||Drug: AProArt|Device: CliniMACS® CD34 Reagent System cell sorter device|Drug: Busulfan||University of California, San Francisco (UCSF) Children's Hospital, San Francisco, California, United States||More Information|
|Lentiviral Gene Transfer for Treatment of Children Older Than Two Years of Age With X-Linked Severe Combined Immunodeficiency (XSCID)||This is a non-randomized clinical trial of gene transfer using a self-inactivating, insulated, lentiviral gene transfer vector to treat 23 patients with X-linked severe combined immunodeficiency (XSCID, also called SCID-X1) who are between 2 and 40 years of age; who do not have a tissue matched sibling who can donate bone marrow for a transplant; who may have failed to obtain sufficient benefit from a previous half-tissue matched bone marrow transplant; and who have clinically significant impairment of immunity.||Phase 1|Phase 2||Recruiting||Drug: Palifermin|Drug: Busulfan|Biological: Ex vivo culture and transduction of the patient's autologous CD34+ HSC with lentivirus vector VSV-G pseudotyped CL20- 4i-EF1a-hyc-OPT vector||National Institutes of Health Clinical Center, 9000 Rockville Pike, Bethesda, Maryland, United States||More Information|
|Gene Transfer for X-Linked Severe Combined Immunodeficiency in Newly Diagnosed Infants||The purpose of this study is to determine if a new method, called lentiviral gene transfer, can be used to treat SCID-X1. This method involves transferring a normal copy of the common gamma chain gene into the participant's bone marrow stem cells. The investigators want to determine if the procedure is safe, whether it can be done according to the methods they have developed, and whether the procedure will provide a normal immune system for the patient. It is hoped that this type of gene transfer may offer a new way to treat children with SCID-X1 that do not have a brother or sister who can be used as a donor for stem cell transplantation.||Phase 1|Phase 2||Recruiting||Genetic: CL20-i4-EF1α-hγc-OPT|Drug: Busulfan|Device: CliniMacs||University of California-San Francisco, San Francisco, California, United States|St. Jude Children's Research Hospital, Memphis, Tennessee, United States|Seattle Children's Research Institute, Seattle, Washington, United States||More Information|
|Lentiviral Gene Transfer for Treatment of Children Older Than 2 Years of Age With X-Linked Severe Combined Immunodeficiency||This study will evaluate the safety and effectiveness of lentiviral gene transfer treatment at restoring immune function to participants with X-linked severe combined immunodeficiency (XSCID) who are 2 to 40 years of age, and have significant impairment of immunity. XSCID is a severe genetic condition of the immune system.||Phase 1|Phase 2||Recruiting||Biological: CD34+ HSCs transduced with the lentivirus vector, VSV-G pseudotyped CL20-4i-EF1α-hγc-OPT|Drug: Palifermin|Drug: Busulfan||Laboratory of Host Defenses (LHD), National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, Maryland, United States||More Information|
|Phase I/II Trial of Lentiviral Gene Transfer for SCID-X1 With Low Dose Targeted Busulfan Conditioning||This is a phase I/II open label multi-center study in which patients will receive low dose targeted busulfan followed by infusion of autologous CD34+ selected bone marrow or mobilized peripheral blood cells transduced with the G2SCID vector. Subjects will be enrolled over 3 years and be followed for 2 years post-infusion on this protocol, then followed long-term on a separate long-term follow-up protocol.||Phase 1|Phase 2||Recruiting||Biological: autologous CD34+ cell transduced with G2SCID vector||Mattel Children's Hospital - UCLA, Los Angeles, California, United States|Emory University/Childrens Healthcare of Atlanta, Atlanta, Georgia, United States|Boston Childrens Hospital, Boston, Massachusetts, United States|Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, United States|Great Ormond Street Hospital, London, United Kingdom||More Information|
|Conditioning SCID Infants Diagnosed Early||The investigators want to study if lower doses of chemotherapy will help babies with SCID to achieve good immunity with less short and long-term risks of complications after transplantation. This trial identifies babies with types of immune deficiencies that are most likely to succeed with this approach and offers them transplant early in life before they get severe infections or later if their infections are under control. It includes only patients receiving unrelated or mismatched related donor transplants.||Phase 2||Recruiting||Drug: Busulfan|Device: Cell processing for TCRαβ+/CD19+ depletion||Mayo Clinic Arizona and Phoenix Children's Hospital, Phoenix, Arizona, United States|Children's Hospital Los Angeles, Los Angeles, California, United States|UCLA Center for Health Sciences, Los Angeles, California, United States|University of California San Francisco Medical Center - Peds, San Francisco, California, United States|Lucile Packard Children's Hospital / Stanford Children's Health, Stanford, California, United States|University of Colorado - Children's Hospital, Aurora, Colorado, United States|Children's Healthcare of Atlanta at Egleston, Atlanta, Georgia, United States|Children's Hospital of New Orleans / LSUHSC, New Orleans, Louisiana, United States|Boston Children's Hospital, Boston, Massachusetts, United States|The University of Michigan, Ann Arbor, Michigan, United States|University of Minnesota, Minneapolis, Minnesota, United States|The Children's Mercy Hospitals and Clinics, Kansas City, Missouri, United States|Washington University/St. Louis Children's Hospital, Saint Louis, Missouri, United States|Nebraska Medicine, Omaha, Nebraska, United States|Hackensack University Medical Center, Hackensack, New Jersey, United States|Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, United States|Vanderbilt University Medical Center, Nashville, Tennessee, United States|Children's Medical Center Dallas, Dallas, Texas, United States|Methodist Children's Hospital, San Antonio, Texas, United States|University of Wisconsin Hospital and Clinics, Madison, Wisconsin, United States||More Information|
|JSP191 Antibody Targeting Conditioning in SCID Patients||A Phase 1/2 study to evaluate the safety, tolerability, and efficacy of an antibody conditioning regimen, known as JSP191, in patients with Severe Combined Immune Deficiency undergoing blood stem cell transplantation||Phase 1|Phase 2||Recruiting||Biological: Humanized anti-CD117 Monoclonal Antibody (JSP191)||UCLA Mattel Children's Hospital, Los Angeles, California, United States|Lucile Packard Children's Hospital, Palo Alto, California, United States|UCSF Benioff's Children's Hospital, San Francisco, California, United States|Children's Healthcare of Atlanta, Atlanta, Georgia, United States|National Institutes of Health Clinical Center, Bethesda, Maryland, United States|University of Minnesota, Minneapolis, Minnesota, United States|Memorial Sloan Kettering Cancer Center, New York, New York, United States|Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, United States||More Information|
Top treatments in development
|Agent||Class/Mechanism of Action||Development Status||Company||Company Contact||Clinical Studies||More Information|
|JSP191||JSP191 (formerly AMG 191) is a first in-class humanized monoclonal antibody in clinical development as a conditioning agent that clears hematopoietic stem cells from bone marrow. JSP191 binds to human CD117, a receptor for stem cell factor (SCF) that is expressed on the surface of hematopoietic stem and progenitor cells. The interaction of SCF and CD117 is required for stem cells to survive. JSP191 blocks SCF from binding to CD117 and disrupts critical survival signals, causing the stem cells to undergo cell death and creating an empty space in the bone marrow for donor or gene corrected transplanted stem cells to engraft||Phase 1/2||Jasper Therapeutics, Inc.||Jeet Mahal|
|OTL-101 (Strimvelis )||Strimvelis (autologous CD34+ enriched cell fraction that contains CD34+ cells transduced with retroviral vector that encodes for the human ADA cDNA sequence) is a gammaretroviral vector-based gene therapy approved by the European Medicines Agency (EMA) in 2016. It was the first ex vivo autologous gene therapy approved by the EMA. Strimvelis has not been approved by the U.S. Food and Drug Administration (FDA).||Phase 1/2 studies completed in the US. Approved in the EU.||Orchard Therapeutics||Anne Dupraz-Poiseau, Ph.D.|
Chief Development Officer
|BPX-501 (RIVO-Cell)||Allogeneic Polyclonal T Cells. RIVO-CEL allogeneic T-cell therapy incorporates our CaspaCIDe® safety switch and is intended to improve hematopoietic stem cell transplantation (HSCT) outcomes in the treatment of hematological malignancies and inherited blood disorders. RIVO CEL is designed to treat immunodeficiency following allogeneic HSCT, preventing morbidity and mortality due to disease relapse and infection. Rimiducid, when used in combination with RIVO-CEL, is designed to reduce morbidity and mortality due to graft versus host disease (GvHD) caused by RIVO CEL by activating CaspaCIDe and eliminating alloreactive RIVO CEL cells.||Phase 1||Bellicum Pharmaceuticals||Alan Musso, CFO|