Gene Therapy ADA Deficiency

NCT01279720 | Completed Phase 1

• 1 other identifier: 03MI14
• Study Type: interventional
• Target: 8
• Locations: 1 country
• Sites: 1

Brief Summary

Adenosine deaminase deficiency is an inherited disorder that results in severe abnormalities of the immune system and leaves children unable to fight infection. This trial aims to treat adenosine deaminase deficiency patients using gene therapy.

Conditions

Adenosine Deaminase Deficiency

Keywords

Adenosine deaminase deficiency; Gene therapy

Outcome Measures

Primary Outcomes (1)

• Immunological reconstitution

  Measurement of Immunological reconstitution and Metabolic Correction. 5 year follow up of the last patient enrolled into study

  5 years

Secondary Outcomes (3)

• Incidence of adverse reactions

  5 years

• Molecular characterisation of gene transfer

  5 years

• Normalisation of nutritional status, growth, and development

  5 years

Study Arms (1)

Intravenous infusion of transduced cells

EXPERIMENTAL

Intravenous infusion of transduced cells

Biological: Intravenous infusion of transduced cells

Interventions

Intravenous infusion of transduced cells BIOLOGICAL

Intravenous infusion of transduced cells

Intravenous infusion of transduced cells

Eligibility Criteria

• Age: Up to 18 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)

You may qualify if:

• Patients who lack a human leukocyte antigen (HLA)-genotypically identical bone marrow donor OR phenotypically matched family or unrelated donor AND who show incomplete immune reconstitution on Polyethylene glycol-modified adenosine deaminase (PEG-ADA) enzyme replacement therapy (defined by absolute CD4+ count \<300 cell/mm3 and who remain on immunoglobulin replacement therapy)
• Diagnosis of ADA-SCID (Severe combined immunodeficiency (SCID) due to adenosine deaminase (ADA)confirmed by DNA sequencing OR by confirmed absence of \<3% of ADA enzymatic activity in peripheral blood or (for neonates) in umbilical cord blood erythrocytes and/or leukocytes or in cultured fetal cells derived from either chorionic villus biopsy or amniocentesis, prior to institution of PEG-ADA replacement therapy
• Parental/guardian/patient signed informed consent

Sponsors & Collaborators

• Great Ormond Street Hospital for Children NHS Foundation Trust: lead

Study Sites (1)

Great Ormond Street Hospital for Children NHS Trust

London, WC1N 1EH, United Kingdom

Location

Related Publications (3)

• Aiuti A, Slavin S, Aker M, Ficara F, Deola S, Mortellaro A, Morecki S, Andolfi G, Tabucchi A, Carlucci F, Marinello E, Cattaneo F, Vai S, Servida P, Miniero R, Roncarolo MG, Bordignon C. Correction of ADA-SCID by stem cell gene therapy combined with nonmyeloablative conditioning. Science. 2002 Jun 28;296(5577):2410-3. doi: 10.1126/science.1070104.

  PMID: 12089448 BACKGROUND

• Hoogerbrugge PM, van Beusechem VW, Fischer A, Debree M, le Deist F, Perignon JL, Morgan G, Gaspar B, Fairbanks LD, Skeoch CH, Moseley A, Harvey M, Levinsky RJ, Valerio D. Bone marrow gene transfer in three patients with adenosine deaminase deficiency. Gene Ther. 1996 Feb;3(2):179-83.

  PMID: 8867866 BACKGROUND

• Hershfield MS. PEG-ADA: an alternative to haploidentical bone marrow transplantation and an adjunct to gene therapy for adenosine deaminase deficiency. Hum Mutat. 1995;5(2):107-12. doi: 10.1002/humu.1380050202.

  PMID: 7749407 BACKGROUND

MeSH Terms

Conditions

Severe combined immunodeficiency due to adenosine deaminase deficiency

Study Design

• Study Type: interventional
• Phase: phase 1
• Allocation: NON RANDOMIZED
• Masking: NONE
• Purpose: TREATMENT
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: January 18, 2011
• First Posted: January 19, 2011
• Study Start: October 1, 2003
• Primary Completion: November 1, 2013
• Study Completion: November 1, 2013
• Last Updated: September 14, 2015

Record last verified: 2015-09

Locations

GB (1)