Page last updated: 2024-10-20

purine and Severe Combined Immunodeficiency

purine has been researched along with Severe Combined Immunodeficiency in 2 studies

1H-purine : The 1H-tautomer of purine.
3H-purine : The 3H-tautomer of purine.
9H-purine : The 9H-tautomer of purine.
7H-purine : The 7H-tautomer of purine.

Severe Combined Immunodeficiency: 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).

Research

Studies (2)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's2 (100.00)29.6817
2010's0 (0.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Cassani, B1
Montini, E1
Maruggi, G1
Ambrosi, A1
Mirolo, M1
Selleri, S1
Biral, E1
Frugnoli, I1
Hernandez-Trujillo, V1
Di Serio, C1
Roncarolo, MG1
Naldini, L1
Mavilio, F1
Aiuti, A1
Sakiyama, Y1

Clinical Trials (2)

Trial Overview

TrialPhaseEnrollmentStudy TypeStart DateStatus
Treatment of ADA-SCID by Gene Therapy on Somatic Cells[NCT00599781]Phase 1/Phase 28 participants (Actual)Interventional1992-03-31Completed
ADA Gene Transfer Into Hematopoietic Stem/Progenitor Cells for the Treatment of ADA-SCID[NCT00598481]Phase 212 participants (Actual)Interventional2002-10-02Completed
[information is prepared from clinicaltrials.gov, extracted Sep-2024]

Trial Outcomes

Rate of Severe Infections

Severe infections were defined as those that required hospitalization or those that prolonged hospitalization. The rate of infection was estimated as number of severe infections over person-years of observation (free from severe infections) before and after treatment administration. The first 3 months after gene therapy were not considered in the post-gene therapy analysis, because all subjects were hospitalized during this period. (NCT00598481)
Timeframe: Before Treatment and 3-months post-treatment up to 3 years

InterventionSevere Infections per person year (Number)
Severe Infections (Before Gene Therapy)1.1
Severe Infections (After Gene Therapy)0.429

Survival

From post-treatment to up to 3 years (NCT00598481)
Timeframe: baseline to 3 years post gene therapy

InterventionParticipants (Count of Participants)
Gene Therapy (Pivotal)12

CD3+ Cell Counts

T-lymphocyte counts (CD3+): mean T-lymphocyte at Baseline and 3 years post gene therapy. Samples were taken from peripheral venous whole blood and tested by cytofluorometry; values are means (10^6/L). (NCT00598481)
Timeframe: baseline up to 3 years post gene therapy

Intervention10^6 cells/L (Geometric Mean)
BaselineYear 1Year 2Year 3
Gene Therapy ITT Population112.5348.3633831.1

Reviews

1 review available for purine and Severe Combined Immunodeficiency

ArticleYear
[Purine nucleoside phosphorylase deficiency].
    Ryoikibetsu shokogun shirizu, 2000, Issue:32

    Topics: Bone Marrow Transplantation; Diagnosis, Differential; Humans; Mutation; Prognosis; Purine-Nucleoside

2000

Trials

1 trial available for purine and Severe Combined Immunodeficiency

ArticleYear
Integration of retroviral vectors induces minor changes in the transcriptional activity of T cells from ADA-SCID patients treated with gene therapy.
    Blood, 2009, Oct-22, Volume: 114, Issue:17

    Topics: Adenosine Deaminase; Antigens, CD34; Biomarkers, Tumor; Cells, Cultured; Gene Expression Profiling;

2009
Integration of retroviral vectors induces minor changes in the transcriptional activity of T cells from ADA-SCID patients treated with gene therapy.
    Blood, 2009, Oct-22, Volume: 114, Issue:17

    Topics: Adenosine Deaminase; Antigens, CD34; Biomarkers, Tumor; Cells, Cultured; Gene Expression Profiling;

2009
Integration of retroviral vectors induces minor changes in the transcriptional activity of T cells from ADA-SCID patients treated with gene therapy.
    Blood, 2009, Oct-22, Volume: 114, Issue:17

    Topics: Adenosine Deaminase; Antigens, CD34; Biomarkers, Tumor; Cells, Cultured; Gene Expression Profiling;

2009
Integration of retroviral vectors induces minor changes in the transcriptional activity of T cells from ADA-SCID patients treated with gene therapy.
    Blood, 2009, Oct-22, Volume: 114, Issue:17

    Topics: Adenosine Deaminase; Antigens, CD34; Biomarkers, Tumor; Cells, Cultured; Gene Expression Profiling;

2009