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NCT Number: NCT06282432

Long-Term Follow-Up (LTFU) for Gene Therapy of Leukocyte Adhesion Deficiency-I (LAD-I)

This Long-Term Follow-Up (LTFU) for Gene Therapy of Leukocyte Adhesion Deficiency-I (LAD-I) is a continuation of a Phase 1/2 clinical study to evaluate the safety and efficacy of the infusion of autologous hematopoietic stem cells transduced with a lentiviral vector encoding the ITGB2 gene

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This study is active but is not currently recruiting participants.

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Key information

Conditions

Leukocyte Adhesion Deficiency Leukocyte adhesion deficiency type 1

Age range

3 month and older

Sex eligibility

All sexes

Study type

Observational

Primary location

Hospital Infantil Universitario Niño Jesús, Madrid, Spain

Loading trial locations.

About this study

Following the end of participation in Study RP-L201-0318, patients will be offered enrollment into this LTFU protocol. Patients will be followed for up to 15 years following the RP-L201 infusion in the parent study, until the patient dies, withdraws consent, or is lost to follow-up (whichever occurs first).

For all follow-up visits, remote evaluation facilitated by local health care providers (with blood sample shipment to relevant laboratory facilities) is permitted; however, annual visits to the study center are required during initial 3 years post- RP-L201 infusion. Visits where a bone marrow sample is being collected are required to be performed at the study center for the duration of the study. Peripheral Blood samples and bone marrow samples will be archived and tested when clinically or scientifically indicated, as in the event of development of a second malignancy.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

  • Enrolled in the Phase I/II Study RP-L201-0318.
  • Received an autologous infusion of CD34+ hematopoietic stem cells modified with a lentiviral vector containing the ITGB2 gene, encoding for the human CD18 receptor in the parent Study RP-L201-0318.
  • Able to adhere to the study visit schedule and other protocol requirements.
  • Provided written informed consent and, as applicable, assent to participate in the current study.

Exclusion criteria

There are no criteria for exclusion in this study.

Treatment and study plan

Primary outcomes

  1. Hematopoietic stem cell transplant (HSCT) free survival

    Time frame: 15 years

    Survival without allogeneic-HSCT.

Secondary outcomes

  1. Incidence of hospitalizations

    Time frame: 15 years

    Incidence of infection-related hospitalizations.

  2. Incidence of significant infections

    Time frame: 15 years

    Incidence of infections requiring hospitalization or intravenous antimicrobials.

  3. Resolution of LAD-I-related skin rash

    Time frame: 15 years

    Partial or complete resolution of LAD-I skin rash evident by photographical images.

  4. Resolution of LAD-I-related periodontal abnormalities

    Time frame: 15 years

    Partial or complete resolution of LAD-I periodontal abnormalities evident by photographical images.

  5. Event free survival

    Time frame: 15 years

    Survival in the absence of graft failure and graft versus host disease.

  6. Overall Survival

    Time frame: 15 years

    Survival in the absence of death from any cause

  7. Long-term genetic correction in peripheral blood mononuclear cells (PBMCs)

    Time frame: 15 years

    Persistence of transgene in PB cells as demonstrated by vector copy number (VCN) of at least 0.1 in PBMCs.

  8. Long-term genetic correction in PB CD15+ granulocytes

    Time frame: 15 years

    Persistence of transgene in PB cells as demonstrated by VCN of at least 0.1 in PB CD15+ granulocytes.

  9. Long-term CD18 neutrophil expression by flow cytometry

    Time frame: 15 Years

    Persistence of CD18 neutrophil expression defined by PB neutrophil CD18 expression to at least 10% of normal.

  10. Long-term CD11 neutrophil expression by flow cytometry

    Time frame: 15 Years

    Persistence of CD11 a/b neutrophil co-expression

  11. Improvement or resolution of LAD-I related neutrophilia

    Time frame: 15 Years

    Improvement of LAD-I related neutrophilia based off neutrophils within age-appropriate normal ranges.

  12. Improvement or resolution of LAD-I-related leukocytosis.

    Time frame: 15 Years

    Improvement of LAD-I related leukocytosis based off leukocytes within age-appropriate normal ranges.

  13. Incidence of Investigational Product (IP) related serious adverse events (SAEs)

    Time frame: 15 Years

    Incidence of SAEs related to the IP measured by CTCAE (Common Terminology Criteria for Adverse Events) for V5.0 grading scale.

  14. Incidence of hematologic malignancy

    Time frame: 15 Years

    Incidence of hematologic malignancy related to prior gene therapy or gene-therapy associated medications.

Sponsors and collaborators

Lead sponsor

Rocket Pharmaceuticals Inc.

Industry

Registry information

Official study title

Long-Term Follow-Up (LTFU) for Gene Therapy of Leukocyte Adhesion Deficiency-I (LAD-I) Phase I/II Clinical Study to Evaluate the Safety and Efficacy of the Infusion of Autologous Hematopoietic Stem Cells Transduced With a Lentiviral Vector Encoding the ITGB2 Gene

Important dates

Study start
2022
Primary completion
2036
Study completion
2036
First posted
Feb 28, 2024
Registry last updated
Dec 18, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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