A Clinical Study to Evaluate the Use of a Cryopreserved Formulation of OTL-103 in Subjects With Wiskott-Aldrich Syndrome

A Single Arm, Open-label Clinical Trial of Hematopoietic Stem Cell Gene Therapy With Cryopreserved Autologous CD34+ Cells Transduced With Lentiviral Vector Encoding WAS cDNA in Subjects With Wiskott-Aldrich Syndrome (WAS)

Status

Active, not recruiting

Phases

Phase 3

Study type

Interventional

Source

ClinicalTrials.gov

Registry ID

NCT03837483

Enrollment

Registered

2019-02-12

Start date

2019-01-21

Completion date

2027-09-30

Last updated

2025-09-29

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Wiskott-Aldrich Syndrome

Brief summary

This is an open-label, single arm study to evaluate the cryopreserved formulation of OTL-103 Gene Therapy. OTL-103 consists of autologous CD34+ hematopoietic stem cells in which the gene encoding for the Wiskott-Aldrich Syndrome is introduced by means of a third generation lentiviral vector.

Interventions

GENETICOTL-103

Autologous hematopoietic stem cells collected from mobilized peripheral blood transduced ex vivo with a lentiviral vector encoding the WAS cDNA

Study design

Allocation

Intervention model

SINGLE_GROUP

Primary purpose

TREATMENT

Masking

NONE

Eligibility

Sex/Gender

ALL

Age

No minimum to 65 Years

Healthy volunteers

Inclusion criteria

* Age: up to 65 years * Diagnosis of WAS defined by genetic mutation and at least one of the following criteria: * Severe Wiskott-Aldrich Syndrome (WAS) gene mutation, defined by literature data (genotype/phenotype studies).; * Absent WASP expression, assessed by flow cytometry; * Severe clinical score (Zhu clinical score ≥ 3); * No human leukocyte antigen (HLA)-identical related donor available for hematopoietic stem cells transplant (HSCT).

Exclusion criteria

* End-organ dysfunction, severe active infection not responsive to treatment or other severe disease or clinical condition which, in the judgment of the investigator, would make the patient inappropriate for entry into this study. * Malignant neoplasia (except local skin cancer) or a documented history of hereditary cancer syndrome. * Myelodysplasia, cytogenetic alterations characteristic of myelodysplastic syndrome and acute myeloid leukaemia , or other serious haematological disorders * Documented human immunodeficiency virus (HIV) infection * Prior allogeneic hematopoietic stem cell transplantation, with evidence of residual cells of donor origin * Symptomatic herpes zoster, not responsive to specific treatment * Evidence of acute tuberculosis * Acute or chronic stable Hepatitis B * Presence of positive Hepatitis C RNA test result at screening * Patients not eligible for mobilization protocols in order to obtain CD34+ cells * Previous Gene Therapy

Design outcomes

Primary

Measure	Time frame
Annualized rate of severe infections from 6 to 18 months after gene therapy compared with 1 year before gene therapy	18 months
Annualized rate of moderate and severe bleeding episodes up to 1 year after gene therapy compared with 1 year before gene therapy	12 months

Secondary

Measure	Time frame	Description
Percentage of WAS protein expression increased from pre-treatment levels in lymphocytes	2 years	—
Percentage of WAS protein expression increased from pre-treatment levels in platelets	2 years	—
Evaluation of the overall survival	36 months	—
The number of subjects presenting with malignancies or abnormal clonal proliferation	2 years	—
Number of participants with successful engraftment of OTL-103	6 months	Engraftment of of OTL-103 is measured by hematological reconstitution of an absolute neutrophil count \> 500 cell/ul
Number of patients with Vector copy number (VCN)/cell > 0.1 measured in peripheral blood-derived CD3+ cells	2 years	—

Countries

Italy, United States

Outcome results

None listed

Source: ClinicalTrials.gov · Data processed: Feb 6, 2026