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CompletedNCT00599781Updated Jan 24, 2008

Gene Therapy for ADA-SCID

A Phase 1/2 interventional study of gene transduced PBL and/or gene transduced HSC in Severe Combined Immunodeficiency Syndrome, sponsored by IRCCS San Raffaele. Completed. Per ClinicalTrials.gov, last updated 2008-01-24.

Sponsored by IRCCS San Raffaele · Phase 1/2, Interventional, and Treatment

Phase
Phase 1/2
Study type
Interventional
Enrollment
8
Allocation
Non-randomized
Sex
All
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Study summary

This study investigated the safety and efficacy of different gene therapy approaches for Severe Combined Immunodeficiency (SCID) caused by the deficiency of adenosine deaminase (ADA) enzyme. This is a severe condition that can be cured by HLA-matched sibling donor bone marrow transplantation. Patients were enrolled if no HLA-identical sibling donor was available and the patient showed evidence of failure of enzyme replacement therapy or this treatment was not a long-term available option. The aim of the study was to evaluate the safety and efficacy of the procedure and to identify the relative role of peripheral blood lymphocytes and hematopoietic stem cells and progenitor cells in the long-term reconstitution of immune functions after retroviral vector mediated ADA gene transfer.

Read the detailed description

This is mono-centric, non-randomized, non-controlled, open label, phase I-II trial that evaluated the safety and efficacy of ADA gene transfer into somatic cells for the treatment of ADA-SCID

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Conditions studied

  • Severe Combined Immunodeficiency Syndrome

Keywords

  • adenosine deaminase
  • SCID
  • gene therapy
  • retroviral vector
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In context

Severe Combined Immunodeficiency

64 studies on the registry are indexed under Severe Combined Immunodeficiency; 15 are open to participants now.

This study's enrollment of 8 is below the median of 9 across 34 interventional studies indexed under Severe Combined Immunodeficiency.

Browse Severe Combined Immunodeficiency studies →

Lead sponsor

IRCCS San Raffaele is the lead sponsor of 443 studies on the registry; 234 are open to participants now.

Counted across the registry records on this site, refreshed daily.

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Who can participate

Ages eligible
Child (0–17), Adult (18–64), Older adult (65+)
Sexes eligible
All
Accepts healthy volunteers
No

Inclusion criteria

  • Lack of HLA-identical sibling donor and
  • Evidence of failure of the enzyme replacement treatment after >6 months or
  • PEG-ADA is not available as a life long option

Exclusion criteria

Exclusion Criteria:

  • HLA identical bone marrow sibling donor
  • HIV infection
  • Malignancy
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Study design

Phase
Phase 1 / Phase 2
Primary purpose
Treatment
Allocation
Non-randomized
Intervention model
Single group
Masking
None (open label)
Enrollment
8 participants (actual)

Study arms

  • Experimental
    PBL/HSC

    Genetic: gene transduced PBL and/or gene transduced HSC

Interventions

  • Geneticgene transduced PBL and/or gene transduced HSC

    infusions of autologous PBL and/or HSC transduced with retroviral vectors encoding ADA

    Also known as: gene therapy

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What researchers measure

Primary outcomes

  1. Evaluation of safety of the administration of the autologous PBL and/or autologous HSC transduced with the normal human ADA gene

Secondary outcomes

  1. Evaluation of extent, kinetic and duration of the engraftment of transduced cells and the potential selective advantage of ADA positive cells

  2. Evaluation of efficacy of the administration of autologous PBL/HSC(Clinical, immunological, hematological, microbiological, ADA activity and purine metabolism)

  3. To identify the relative role of peripheral blood lymphocytes and hematopoietic stem cells and progenitor cells in the long-term reconstitution of immune functions after gene therapy

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Study locations

No study locations are listed for this record.

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References and documents

Publications

  • Sauer AV, Brigida I, Carriglio N, Hernandez RJ, Scaramuzza S, Clavenna D, Sanvito F, Poliani PL, Gagliani N, Carlucci F, Tabucchi A, Roncarolo MG, Traggiai E, Villa A, Aiuti A. Alterations in the adenosine metabolism and CD39/CD73 adenosinergic machinery cause loss of Treg cell function and autoimmunity in ADA-deficient SCID. Blood. 2012 Feb 9;119(6):1428-39. doi: 10.1182/blood-2011-07-366781. Epub 2011 Dec 19. PubMed 22184407 ↗
  • Cassani B, Montini E, Maruggi G, Ambrosi A, Mirolo M, Selleri S, Biral E, Frugnoli I, Hernandez-Trujillo V, Di Serio C, Roncarolo MG, Naldini L, Mavilio F, Aiuti A. 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;114(17):3546-56. doi: 10.1182/blood-2009-02-202085. Epub 2009 Aug 3. PubMed 19652199 ↗
  • Sauer AV, Mrak E, Hernandez RJ, Zacchi E, Cavani F, Casiraghi M, Grunebaum E, Roifman CM, Cervi MC, Ambrosi A, Carlucci F, Roncarolo MG, Villa A, Rubinacci A, Aiuti A. ADA-deficient SCID is associated with a specific microenvironment and bone phenotype characterized by RANKL/OPG imbalance and osteoblast insufficiency. Blood. 2009 Oct 8;114(15):3216-26. doi: 10.1182/blood-2009-03-209221. Epub 2009 Jul 24. PubMed 19633200 ↗
  • Aiuti A, Cattaneo F, Galimberti S, Benninghoff U, Cassani B, Callegaro L, Scaramuzza S, Andolfi G, Mirolo M, Brigida I, Tabucchi A, Carlucci F, Eibl M, Aker M, Slavin S, Al-Mousa H, Al Ghonaium A, Ferster A, Duppenthaler A, Notarangelo L, Wintergerst U, Buckley RH, Bregni M, Marktel S, Valsecchi MG, Rossi P, Ciceri F, Miniero R, Bordignon C, Roncarolo MG. Gene therapy for immunodeficiency due to adenosine deaminase deficiency. N Engl J Med. 2009 Jan 29;360(5):447-58. doi: 10.1056/NEJMoa0805817. PubMed 19179314 ↗
  • Cassani B, Mirolo M, Cattaneo F, Benninghoff U, Hershfield M, Carlucci F, Tabucchi A, Bordignon C, Roncarolo MG, Aiuti A. Altered intracellular and extracellular signaling leads to impaired T-cell functions in ADA-SCID patients. Blood. 2008 Apr 15;111(8):4209-19. doi: 10.1182/blood-2007-05-092429. Epub 2008 Jan 24. Erratum In: Blood. 2014 Jun 5;123(23):3682. PubMed 18218852 ↗
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Updates

Tracking since Sep 25, 2026
No changes since tracking began. The registry record was last updated on Jan 24, 2008, before this site started recording changes on Sep 25, 2026. Its history is on ClinicalTrials.gov ↗
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Registry details

Key details

Study ID
NCT00599781
Lead sponsor
IRCCS San Raffaele
Collaborators
Fondazione Telethon
First posted
Jan 24, 2008
Start date
Mar 1992
Primary completion
Jul 2006
Completion
Jan 2007
Last update
Jan 24, 2008

Study contacts

Bordignon Claudio, MD
principal investigator · IRCCS San Raffaele

Oversight

Data monitoring committee
No
View the source record on ClinicalTrials.gov ↗

Not currently enrolling

This study is completed, as verified in Dec 2007. You cannot join it, but the record below documents what was studied.

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