Rare Gastroenterology News

Spotlight On

X-linked severe combined immunodeficiency (X-SCID)

X-linked severe combined immunodeficiency (X-SCID) is a severe, genetic condition of the immune system

Prevelance

1-9 / 100 000

3,310 - 29,790

US Estimated

5,135 - 46,215

Europe Estimated

Age of Onset

ageofonset-neonatal.svg

ICD-10

D81.2

Inheritance

Autosomal dominant

no.svg

Autosomal recessive

no.svg

Mitochondrial/Multigenic

no.svg

X-linked dominant

no.svg

X-linked recessive

rnn-xlinkedrecessive.svg

5 Facts you should know

FACT

1

Persons afflicted with X-SCID often have infections very early in life, before three months of age

FACT

2

This occurs due to the decreased amount of immunoglobulin G (IgG) levels in the infant during the three-month stage

FACT

3

This is followed by viral infections such as pneumonitis

FACT

4

A telltale sign of X-SCID is candidiasis, a type of fungal infection caused by Candida albicans

FACT

5

Recurrent eczema-like rashes are also a common symptom

X-linked severe combined immunodeficiency (X-SCID) is also known as...

X-linked severe combined immunodeficiency (X-SCID)

X-SCID, Severe combined immunodeficiency, X-linked; SCID, X-linked; Severe combined immunodeficiency T- B+ due to gamma chain deficiency.

What’s your Rare IQ?

Which of the following symptoms is not characteristic in X-SCID?

Common signs & symptoms

Decreased lymphocyte proliferation in response to mitogen

Decreased proportion of CD4-positive helper T cells

Decreased proportion of naive T cells

Pneumonia

Recurrent fever

Episodic fever
Increased body temperature, episodic
Intermittent fever

Reduced natural killer cell count

Abnormally low T cell receptor excision circle level

Top Clinical Trials

TitleDescriptionPhasesStatusInterventionsLocationsMore Information
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 2RecruitingDrug: Anti-thymocyte globulin (rabbit)|Drug: Busulfan|Drug: Fludarabine|Drug: Thiotepa|Device: CliniMACS|Other: Donor Lymphocyte InfusionSt. Jude Children's Research Hospital, Memphis, Tennessee, United StatesClick here for more information
Autologous Gene Therapy for Artemis-Deficient SCIDThis 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 2RecruitingDrug: AProArt|Device: CliniMACS® CD34 Reagent System cell sorter device|Drug: BusulfanUniversity of California, San Francisco (UCSF) Children's Hospital, San Francisco, California, United StatesClick here for 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 2RecruitingDrug: 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 vectorNational Institutes of Health Clinical Center, 9000 Rockville Pike, Bethesda, Maryland, United StatesClick here for more information
Gene Transfer for X-Linked Severe Combined Immunodeficiency in Newly Diagnosed InfantsThe 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 2RecruitingGenetic: CL20-i4-EF1α-hγc-OPT|Drug: Busulfan|Device: CliniMacsUniversity 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 StatesClick here for more information
Lentiviral Gene Transfer for Treatment of Children Older Than 2 Years of Age With X-Linked Severe Combined ImmunodeficiencyThis 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 2RecruitingBiological: CD34+ HSCs transduced with the lentivirus vector, VSV-G pseudotyped CL20-4i-EF1α-hγc-OPT|Drug: Palifermin|Drug: BusulfanLaboratory of Host Defenses (LHD), National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, Maryland, United StatesClick here for more information
Phase I/II Trial of Lentiviral Gene Transfer for SCID-X1 With Low Dose Targeted Busulfan ConditioningThis 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 2RecruitingBiological: autologous CD34+ cell transduced with G2SCID vectorMattel 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 KingdomClick here for more information
Conditioning SCID Infants Diagnosed EarlyThe 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 2RecruitingDrug: Busulfan|Device: Cell processing for TCRαβ+/CD19+ depletionMayo 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| More locations available. See more information linkClick here for more information
JSP191 Antibody Targeting Conditioning in SCID PatientsA 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 transplantationPhase 1|Phase 2RecruitingBiological: 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| More locations available. See more information linkClick here for more information

Top Treatments in Research

AgentClass/Mechanism of ActionDevelopment StatusCompanyCompany ContactClinical StudiesMore Information
JSP191JSP191 (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 1/2Jasper Therapeutics, Inc.Jeet Mahal
Jasper Therapeutics
650-549-1403
jmahal@jaspertherapeutics.com
Click here for more informationClick here for more information
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 TherapeuticsAnne Dupraz-Poiseau, Ph.D.
Chief Development Officer
Click here for more informationClick here for more information
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 1Bellicum PharmaceuticalsAlan Musso, CFO
832-384-1116
amusso@bellicum.com
Click here for more informationClick here for more information