Ongoing Clinical Trials for Wiskott-Aldrich Syndrome
Two clinical trials are currently ongoing to evaluate the long-term safety and effectiveness of gene therapy for Wiskott-Aldrich syndrome, a rare genetic disorder affecting the immune system and blood clotting. These studies are following patients who have already received an innovative treatment called etuvetidigene autotemcel, which uses modified stem cells to correct the genetic defect. The trials are being conducted in Italy and France.
Clinical trial locations
- France
- Italy
Long-term Safety and Efficacy Study of Etuvetidigene Autotemcel for Patients with Wiskott-Aldrich Syndrome
This trial is investigating the long-term safety and effectiveness of a gene therapy treatment known as Telethon003, also called etuvetidigene autotemcel or OTL-103. The treatment involves taking a patient’s own blood stem cells, modifying them in a laboratory to correct the genetic defect causing the condition, and then returning them to the patient’s body.
Who can participate: Patients who have already been treated with Telethon003 are eligible for this study. They must be willing to attend all scheduled study visits and follow the study protocol. Either the patient or their parent or legal guardian must be able to provide informed consent, meaning they understand and agree to participate in the study.
Who cannot participate: Patients with other serious health conditions that might interfere with the study are excluded. Those who have had a recent infection, are currently taking medications that might interfere with the treatment, or have a history of allergic reactions to similar treatments cannot join. The trial also excludes pregnant or breastfeeding patients, those who have recently participated in another clinical trial, patients with a history of substance abuse, and those unable to comply with study procedures.
Study focus: The trial aims to monitor patients over a period of up to 15 years after receiving Telethon003 treatment. Researchers will track various health aspects including survival rates, frequency of infections and bleeding episodes, occurrence of eczema, autoimmune conditions, and blood disorders. The study will also evaluate quality of life using specialized questionnaires and monitor growth in children. Regular assessments will be conducted to check for any side effects or health issues that might arise, as well as to assess overall health and well-being.
Investigational treatment: Telethon003 is a gene therapy that uses a special virus called a lentivirus to insert a healthy copy of the faulty gene into the patient’s own stem cells. Once these modified cells are returned to the body, they can produce healthy blood cells, helping to improve immune system function and reduce symptoms over the long term.
Long-Term Safety Study of Gene Therapy with Etuvetidigene Autotemcel for Patients with Wiskott-Aldrich Syndrome
This clinical trial focuses on monitoring the long-term safety of gene therapy treatment for patients who have already received etuvetidigene autotemcel. The treatment uses a patient’s own blood stem cells, which are modified with a lentiviral vector carrying a healthy version of the WASP gene.
Who can participate: This study is open to male patients only who participated in earlier phase I/II studies and received a single infusion of their own CD34+ cells that were modified using the lentiviral vector method. Participants or their parents or guardians must have signed an informed consent document, agreeing to take part after understanding what the study involves. The trial is specifically for patients who received treatment in France and the United Kingdom.
Who cannot participate: Female patients are excluded from this study. Additionally, patients who have not received autologous transplantation with CD34+ cells or who have not been treated with the lentiviral vector are not eligible to participate.
Study focus: The trial involves yearly follow-up visits to evaluate the safety of the gene therapy over an extended period. During these visits, researchers will check for any serious adverse events and monitor for delayed complications such as cancers, blood-related issues, autoimmune events, and mortality. The study also assesses blood cell reconstitution, immune system function, and the evolution of key medical events related to the condition, including eczema, infections, bleeding symptoms, and autoimmune manifestations. Additional evaluations include checking the need for associated treatments such as antibiotics or blood transfusions, and optional bone marrow examinations at specific time points.
Investigational treatment: The therapy involves CD34+ cells transduced with the w1.6_hWASP_WPRE (VSVg) lentiviral vector. This means the patient’s own stem cells are collected, modified in a laboratory using a lentiviral vector that carries a corrected version of the gene, and then returned to the patient to help improve immune system and blood cell function.
Summary
Both ongoing clinical trials focus on the long-term safety and effectiveness of gene therapy for Wiskott-Aldrich syndrome using etuvetidigene autotemcel. These trials are conducting follow-up studies of patients who have already received this innovative treatment, with one trial based in Italy and the other in France. The studies share a similar approach, monitoring patients over many years to understand how well the gene therapy works and whether any delayed side effects occur.
A notable observation is that both trials are exclusively following patients who have already been treated, rather than recruiting new patients for initial treatment. This indicates that the research is now in the long-term safety monitoring phase. The Italian trial offers a longer follow-up period of up to 15 years and includes comprehensive quality of life assessments, while the French trial focuses on specific safety monitoring over 10 years and is limited to male participants only. Both studies use the same basic gene therapy approach, involving the modification of a patient’s own stem cells with a lentiviral vector to correct the genetic defect underlying the condition.
