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

Plain-language summary

This study evaluates a cryopreserved formulation of OTL-103 gene therapy in patients with Wiskott-Aldrich syndrome. The treatment involves transferring a working copy of the WAS gene into the patient's own stem cells. Participants up to 65 years old with a genetically confirmed diagnosis took part. It is a Phase 3 study, active but not currently recruiting.

The summary above is a plain-language rendering of the official record. The original English title is shown for reference.

Trial details

Phase

Phase 3

Status

Active, not recruiting

Sponsor

Fondazione Telethon

Intervention

OTL-103

Start date

1/21/2019

Estimated completion

9/1/2027

Countries

United States, Italy

Related genes

Locations

• Atlanta, United States
• Milan, Italy

Eligibility criteria

Criteria are reproduced from the ClinicalTrials.gov record in the original English. Only the trial team can determine eligibility.

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