A Long-term Follow-up Study for Subjects Previously Treated with Autologous ex vivo Lentiviral Hematopoietic Stem and Progenitor Cell Gene Therapy for Wiskott-Aldrich Syndrome (WAS)

Overview

Sponsor-declared trial summary

Key facts

Sponsor

Fondazione Telethon Ets

Participant type

Pediatric, Patients

Age range

0-17 years, 18-64 years, 65+ years

Gender

Male and Female

Therapeutic area

Diseases [C] - Immune System Diseases [C20]

Trial duration

25 Jun 2025 → ongoing

Decision date (initial)

2025-04-11

Transition trial

No

Low-intervention

No

Rare-disease indication

Yes

Vulnerable population

Yes

Trial design

CTIS Part I — objectives, methods, condition coding

Main objective

Scope: Efficacy, Safety

- To characterize the long-term safety of Telethon003 treatment.
- To characterize the long-term clinical efficacy of Telethon003 treatment.

Conditions and MedDRA coding

Wiskott-Aldrich syndrome (WAS)

Regulatory references

Scientific advice from competent authorities

European Medicines Agency

EMA paediatric investigation plan (PIP)

EMEA-001792-PIP01-15

Plan to share IPD

No

Eligibility criteria

Principal inclusion / exclusion criteria as submitted by sponsor

Inclusion criteria 3

1. The patient has been treated with Telethon003
2. The patient or, if applicable, the patient’s parent(s)/legal guardian(s), are able and willing to provide informed consent.
3. Willingness to attend the study visit schedule and be compliant with the protocol.

Exclusion criteria 1

1. Participation in an ongoing clinical study with an investigational drug (other to gene therapy study or early access, object for this study) prior to enrolment in this study or willingness to participate in another interventional clinical trial. If in deviation to this exclusion criteria, a subject took or takes another investigational drug or other available therapy (e.g. hematopoietic stem cell transplant) he will be followed anyway to collect safety events.

Endpoints

Primary and secondary outcome measures (English text)

Primary endpoints 2

1. To characterize the long-term safety of the gene therapy treatment with Telethon003 as measured by: recording of adverse event (AE) and serious adverse event (SAE) related to gene therapy including: − insertional mutagenesis and oncogenesis (blood and solid malignancies); − transgene immunogenicity; − development of replication-competent lentiviruses (RCL);
2. To evaluate the overall survival (OS) as primary efficacy endpoint up to 15 years of follow-up post treatment with Telethon003

Secondary endpoints 16

1. Event free survival
2. Annualized rate of severe infections compared with 1 year prior to gene therapy;
3. Annualized rate of moderate and severe bleeding episodes compared with 1 year prior to gene therapy
4. Eczema
5. Autoimmunity
6. Hematologic disorders (i.e. neutropenia and/or other cytopenias);
7. Malignancies
8. Use of IgRT
9. New or exacerbations of pre-existing neurological disorders
10. Variation in height and weight (for paediatric patients)
11. Karnofsky/Lansky performance scales
12. Platelet count and MPV
13. Vector Copy Number (VCN)
14. Insertion site analysis (ISA)
15. PedsQL (Pediatric Quality of Life Inventory) health-related quality of life scales
16. EQ-5D, and SF-10 or SF-36 health-related quality of life questionnaires

Investigational products

Investigational medicinal products (IMPs), comparators, placebo, auxiliary

Test 2

Sponsors and contacts

Sponsor organisations, regulatory contacts, third parties

Fondazione Telethon Ets

Sponsor organisation

Fondazione Telethon Ets

Address

Via Varese 16 B

City

Rome

Postcode

00185

Country

Italy

Scientific contact point

Organisation

Fondazione Telethon Ets

Contact name

Regulatory Affairs

Public contact point

Organisation

Fondazione Telethon Ets

Contact name

Clinical development and operations

Third parties 2

Locations

1 EU/EEA country · 1 investigational sites

By country

Investigational sites

Country notifications

Trial-start, recruitment-start, end and early-termination notifications submitted per Member State

Results and documents

Annex IV summary of results, Annex V layperson summary, and all documents registered in CTIS for this trial

Documents 18 files

Public protocol annexes, IB summaries, regulatory submissions and post-authorisation documents registered in CTIS.

Application history

4 submissions — initial application plus substantial / non-substantial modifications