Wiskott-Aldrich Syndrome (WAS) | Gene Therapy for Wiskott-Aldrich Syndrome

Wiskott-Aldrich Syndrome (WAS) research study

What is the primary objective of this study?

This is phase I/II protocol to evaluate the safety and efficacy of WAS gene transfer into hematopoietic stem/progenitor cells for the treatment of Wiskott Aldrich Syndrome.

Who is eligible to participate?

Inclusion Criteria: 1. Diagnosis of WAS defined by genetic mutation and at least one of the following criteria: - Severe WAS mutation - Absence of WASP expression - Severe clinical score (Zhu clinical score ≥ 3 2. No HLA-identical sibling donor 3. Negative search for a matched unrelated donor (10/10) or an adequate unrelated cord blood donor (5-6/6) within 4-6 months - Patients of > 5 years of age who are not candidate to unrelated allogeneic transplant based on clinical conditions. 4. Parental/guardian/patient signed informed consent. Exclusion Criteria: 1. Patients positive for HIV-infection. 2. Patients affected by neoplasia. 3. Patients with cytogenetic alterations typical of MDS/AML. 4. Patients with end-organ functions or any other severe disease which, in the judgement of the investigator, would make the patient inappropriate for entry into this study. 5. Patients who underwent an allogeneic haematopoietic stem cell transplantation in the previous 6 months. 6. Patients who underwent an allogeneic haematopoietic stem cell transplantation with evidence of residual cells of donor origin.

Which medical condition, disease, disorder, syndrome, illness, or injury is researched?

Wiskott-Aldrich Syndrome (WAS)

Study Interventions

Interventions can include giving participants drugs, medical devices, procedures, vaccines, and other products that are either investigational or already available or noninvasive approaches such as surveys, education, and interviews.

Genetic:OTL-103OTL-103 is an autologous CD34+ cells collected from bone marrow and/or peripheral blood and transduced with a lentiviral vector encoding Wiskott-Aldrich syndrome (WAS) protein

Study Arms

Research studies and clinical trials typically have two or more research arms. An arm is a group of people who receive the same treatment in the study.

OTL-103 gene therapyEligible subjects will receive intravenous (IV) infusion of OTL-103 gene therapy. Subjects affected by WAS who don't have a suitable matched donor for allogenic hematopoietic stem cell transplantation will be included

Study Status

Active, not recruiting

Start Date: April 20, 2010

Completed Date: September 11, 2025

Phase: Phase 1/Phase 2

Type: Interventional


Primary Outcome: Conditioning regimen-related safety

Secondary Outcome: Lack of immune response to transgene

Study sponsors, principal investigator, and references

Principal Investigator: Orchard Clinical Trials

Lead Sponsor: Orchard Therapeutics

Collaborator: Ospedale San Raffaele - Telethon Institute for Gene Therapy (OSR-TIGET)

More information:

Aiuti A, Biasco L, Scaramuzza S, Ferrua F, Cicalese MP, Baricordi C, Dionisio F, Calabria A, Giannelli S, Castiello MC, Bosticardo M, Evangelio C, Assanelli A, Casiraghi M, Di Nunzio S, Callegaro L, Benati C, Rizzardi P, Pellin D, Di Serio C, Schmidt M, Von Kalle C, Gardner J, Mehta N, Neduva V, Dow DJ, Galy A, Miniero R, Finocchi A, Metin A, Banerjee PP, Orange JS, Galimberti S, Valsecchi MG, Biffi A, Montini E, Villa A, Ciceri F, Roncarolo MG, Naldini L. Lentiviral hematopoietic stem cell gene therapy in patients with Wiskott-Aldrich syndrome. Science. 2013 Aug 23;341(6148):1233151. doi: 10.1126/science.1233151. Epub 2013 Jul 11.

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