An Observational LTFU Study for Patients Previously Treated With Autologous ex Vivo Gene Therapy for ADA-SCID

NCT04049084 | Enrolling By Invitation FDA Drug

• 1 other identifier: OTL-101-6
• Study Type: observational
• Target: 70
• Locations: 2 countries
• Sites: 2

Brief Summary

This observational long-term follow-up study is designed to collect safety and efficacy data from ADA-SCID patients previously treated with autologous ex vivo gene therapy products based on the EFS-ADA LV encoding for human adenosine deaminase (ADA) gene (EFS-ADA LV), as part of the OTL-101 clinical development program. No investigational medicinal product will be administered to these patients as part of the OTL-101-6 study.

Conditions

Adenosine Deaminase Deficiency; Severe Combined Immunodeficiency (SCID)

Keywords

OTL-101

Outcome Measures

Primary Outcomes (3)

• Overall Survival

  Establishing efficacy through overall survival

  15 years post-treatment

• Event-Free Survival

  Establishing efficacy through event-free survival

  15 years post-treatment

• Incidence of Adverse Events

  Long-Term Safety incidence of AEs and SAEs

  15 years post-treatment

Interventions

autologous ex vivo gene therapy products based on the EFS LV encoding for the human adenosine deaminase (ADA) gene (EFS-ADA LV) BIOLOGICAL

ADA-SCID patients previously treated with autologous ex vivo gene therapy products based on the EFS LV encoding for the human adenosine deaminase (ADA) gene (EFS-ADA LV)

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

This observational LTFU study is open for enrollment to ADA-SCID patients previously treated with autologous ex vivo gene therapy products based on the EFS-ADA lentiviral vector as part of the OTL-101 clinical development program. Patients treated in clinical trials as part of IND #15440, study OTL-101-5 (EudraCT No 2017-001275-23) or study 10-MI-29 (EudraCT No 2010-024253-36), as well as in Expanded Access or Compassionate Use Programs, will be eligible for enrollment.

You may qualify if:

• A patient is eligible for enrollment in the study if all of the following criteria are met:
• the patient has been treated with an autologous ex vivo gene therapy product based on the EFS-ADA LV, as part of the OTL-101 clinical development program;
• the patient displays persistent detectable gene marking, as determined by the Investigator;
• the patient or, if applicable, the patient's parent(s)/legal guardian(s), are able and willing to provide informed consent.

Sponsors & Collaborators

• Great Ormond Street Hospital for Children NHS Foundation Trust: collaborator
• University of California, Los Angeles: lead

Study Sites (2)

Mattel Children's Hospital UCLA/Ronald Reagan UCLA Medical Center

Los Angeles, California, 90095, United States

Location

UCL Great Ormond Street Institute of Child Health

London, WC1N 1EH, United Kingdom

Location

Related Publications (1)

• Booth C, Masiuk K, Vazouras K, Fernandes A, Xu-Bayford J, Campo Fernandez B, Roy S, Curio-Penny B, Arnold J, Terrazas D, Reid J, Gilmour KC, Adams S, Alvarez Mediavilla E, Mhaldien L, O'Toole G, Ahmed R, Garabedian E, Malech H, De Ravin SS, Moore TB, De Oliveira S, Pellin D, Lin TY, Dang TT, Cornetta K, Hershfield MS, Hara H, Thrasher AJ, Gaspar HB, Kohn DB. Long-Term Safety and Efficacy of Gene Therapy for Adenosine Deaminase Deficiency. N Engl J Med. 2025 Oct 16;393(15):1486-1497. doi: 10.1056/NEJMoa2502754.

  PMID: 41092330 DERIVED

Biospecimen

Retention: SAMPLES WITH DNA

This study is a long term follow up for subjects treated with EFS ADA gene therapy via mutiple/different trials under the same IND. Samples collected from blood - cells samples, serum and DNA will be frozen and retained. Subjects followed for a period of 13 years under this Long term follow up trial post treatment and completion of the 2 year follow-up in the parent treatment trial.

MeSH Terms

Conditions

Severe combined immunodeficiency due to adenosine deaminase deficiency; Severe Combined Immunodeficiency

Interventions

Genes

Condition Hierarchy (Ancestors)

Primary Immunodeficiency Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Infant, Newborn, Diseases; DNA Repair-Deficiency Disorders; Metabolic Diseases; Nutritional and Metabolic Diseases; Immunologic Deficiency Syndromes; Immune System Diseases

Intervention Hierarchy (Ancestors)

Genome Components; Genome; Genetic Structures; Genetic Phenomena

Study Officials

• Donald B. Kohn, M.D.

  University of Califorina, Los Angeles

  STUDY DIRECTOR

Study Design

• Study Type: observational
• Observational Model: OTHER
• Time Perspective: OTHER
• Target Duration: 13 Years
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Principal Investigator

Study Record Dates

• First Submitted: August 6, 2019
• First Posted: August 7, 2019
• Study Start: September 26, 2019
• Primary Completion (Estimated): August 1, 2040
• Study Completion (Estimated): August 1, 2040
• Last Updated: December 18, 2025

Record last verified: 2025-12

Data Sharing

• IPD Sharing: Will not share

Locations

GB (1); US (1)