Leukocyte Adhesion DeficiencyNCT06282432
Long-Term Follow-Up (LTFU) for Gene Therapy of Leukocyte Adhesion Deficiency-I (LAD-I)
An observational study of Leukocyte Adhesion Deficiency, run by Rocket Pharmaceuticals Inc. at 3 sites in 3 countries.
Trial summary
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 Read more about this study
- Who is it for?
- Ages 3 months and older
- Conditions the study is for
- Leukocyte Adhesion Deficiency
- How many people
- 9 participants
- Where
- 3 sitesin 3 countries
- Study dates
- 9 Mar 2022to 4 Oct 2036
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 3 months and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Subjects that have been treated with RP-L201 on the RP-L201-0318 study.
Who may be able to join
- 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.
Who cannot join
- There are no criteria for exclusion in this study.
Trial locations and contacts
3 sites in 3 countries.
3 sites in 3 countries
United States1 site
University of California, Los Angeles (UCLA)
Los Angeles, California, 90095-1489
United Kingdom1 site
University College London Great Ormond Street Institute of Child Health (GOSH)
London, WC1N 1EH
About this study
Official 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
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
Read the detailed description
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.
- Conditions
- Leukocyte Adhesion Deficiency
- Keywords
- LAD-I, LAD
- Medical subject headings
- Leukocyte adhesion deficiency type 1
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Subjects that received RP-L201 on the RP-L201-0318 Parent Study | Subjects that received RP-L201 on the RP-L201-0318 Parent Study and either completed the study or discontinued early. |
What is being measured
The primary outcome is the main question the study is designed to answer.
Hematopoietic stem cell transplant (HSCT) free survival
Survival without allogeneic-HSCT.
Measured: 15 years
Secondary outcomes (14)
Incidence of hospitalizations
Incidence of infection-related hospitalizations.
Measured: 15 years
Incidence of significant infections
Incidence of infections requiring hospitalization or intravenous antimicrobials.
Measured: 15 years
Resolution of LAD-I-related skin rash
Partial or complete resolution of LAD-I skin rash evident by photographical images.
Measured: 15 years
Resolution of LAD-I-related periodontal abnormalities
Partial or complete resolution of LAD-I periodontal abnormalities evident by photographical images.
Measured: 15 years
Event free survival
Survival in the absence of graft failure and graft versus host disease.
Measured: 15 years
Overall Survival
Survival in the absence of death from any cause
Measured: 15 years
Long-term genetic correction in peripheral blood mononuclear cells (PBMCs)
Persistence of transgene in PB cells as demonstrated by vector copy number (VCN) of at least 0.1 in PBMCs.
Measured: 15 years
Long-term genetic correction in PB CD15+ granulocytes
Persistence of transgene in PB cells as demonstrated by VCN of at least 0.1 in PB CD15+ granulocytes.
Measured: 15 years
Long-term CD18 neutrophil expression by flow cytometry
Persistence of CD18 neutrophil expression defined by PB neutrophil CD18 expression to at least 10% of normal.
Measured: 15 Years
Long-term CD11 neutrophil expression by flow cytometry
Persistence of CD11 a/b neutrophil co-expression
Measured: 15 Years
Improvement or resolution of LAD-I related neutrophilia
Improvement of LAD-I related neutrophilia based off neutrophils within age-appropriate normal ranges.
Measured: 15 Years
Improvement or resolution of LAD-I-related leukocytosis.
Improvement of LAD-I related leukocytosis based off leukocytes within age-appropriate normal ranges.
Measured: 15 Years
Incidence of Investigational Product (IP) related serious adverse events (SAEs)
Incidence of SAEs related to the IP measured by CTCAE (Common Terminology Criteria for Adverse Events) for V5.0 grading scale.
Measured: 15 Years
Incidence of hematologic malignancy
Incidence of hematologic malignancy related to prior gene therapy or gene-therapy associated medications.
Measured: 15 Years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted28 Feb 2024
- Study start9 Mar 2022
- Primary completion4 Oct 2036 (estimated)
- Study completion4 Oct 2036 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for Leukocyte Adhesion DeficiencyStudies of the same condition, open and under way.
- More trials run by Rocket Pharmaceuticals Inc.The sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case only
- Time perspective
- Prospective
- Enrolment
- 9 participants (actual)
Sponsor and investigators
- Lead sponsor
- Rocket Pharmaceuticals Inc.
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
- Investigators
- Donald Kohn, MD, Principal investigator, University of California, Los AngelesClaire Booth, MBBS, PhD, MSc, Principal investigator, University College London Great Ormond Street Institute of Child HealthJulian Sevilla, MD, PhD, Principal investigator, Hospital Infantil Universitario Niño Jesús
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06282432
- Sponsor's protocol ID
- RP-L201-0121-LTFU
- Status last verified
- Dec 2025
- First submitted
- 13 Nov 2023
- Last updated
- 18 Dec 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Publications
Booth C, Sevilla J, Almarza E, Kuo CY, Zubicaray J, Terrazas D, O'Toole G, Chitty-Lopez M, Choi G, Nicoletti E, Long-Boyle J, Fernandes A, Chetty K, De Oliveira S, Banuelos C, Xu-Bayford J, Bastone AL, John-Neek P, Jackson C, Moore TB, Gilmour K, Schambach A, Rothe M, Kasbekar S, Rao GR, Patel K, Shah G, Thrasher AJ, Bueren JA, Schwartz JD, Kohn DB. Lentiviral Gene Therapy for Severe Leukocyte Adhesion Deficiency Type 1. N Engl J Med. 2025 May 1;392(17):1698-1709. doi: 10.1056/NEJMoa2407376.
PubMed 40305711
Study at a glance
From the registry record, last updated by the sponsor on 18 Dec 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official 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
- ClinicalTrials.gov ID
- NCT06282432
- Acronym / sponsor ID
- RP-L201-0121-LTFU
- Conditions
- Leukocyte Adhesion Deficiency
- Keywords
- LAD-I, LAD
- Study type
- Observational
- Recruitment status
- Active, not recruiting
- Enrolment
- 9 participants (actual)
- Lead sponsor
- Rocket Pharmaceuticals Inc.Industry (pharma, biotech, devices)
- Study start
- 9 Mar 2022 (actual)
- Primary completion
- 4 Oct 2036 (estimated)
- Study completion
- 4 Oct 2036 (estimated)
- First posted
- 28 Feb 2024 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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
Detailed description
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.
Study design
- Observational model
- Case only
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Subjects that received RP-L201 on the RP-L201-0318 Parent Study | – | –Subjects that received RP-L201 on the RP-L201-0318 Parent Study and either completed the study or discontinued early. |
Who may qualify
- Ages
- 3 months and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Subjects that have been treated with RP-L201 on the RP-L201-0318 study.
Key inclusion criteria (4 listed)
- 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.
Key exclusion criteria (1 listed)
- There are no criteria for exclusion in this study.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Hematopoietic stem cell transplant (HSCT) free survival
Time frame: 15 years
Survival without allogeneic-HSCT.
14 secondary outcomes
Incidence of hospitalizations
Time frame: 15 years
Incidence of significant infections
Time frame: 15 years
Resolution of LAD-I-related skin rash
Time frame: 15 years
Resolution of LAD-I-related periodontal abnormalities
Time frame: 15 years
Event free survival
Time frame: 15 years
Overall Survival
Time frame: 15 years
Long-term genetic correction in peripheral blood mononuclear cells (PBMCs)
Time frame: 15 years
Long-term genetic correction in PB CD15+ granulocytes
Time frame: 15 years
Long-term CD18 neutrophil expression by flow cytometry
Time frame: 15 Years
Long-term CD11 neutrophil expression by flow cytometry
Time frame: 15 Years
Improvement or resolution of LAD-I related neutrophilia
Time frame: 15 Years
Improvement or resolution of LAD-I-related leukocytosis.
Time frame: 15 Years
Incidence of Investigational Product (IP) related serious adverse events (SAEs)
Time frame: 15 Years
Incidence of hematologic malignancy
Time frame: 15 Years
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 18 Dec 2025.
- Derived from this study: PubMed 40305711Booth C, Sevilla J, Almarza E, Kuo CY, Zubicaray J, Terrazas D, O'Toole G, Chitty-Lopez M, Choi G, Nicoletti E, Long-Boyle J, Fernandes A, Chetty K, De Oliveira S, Banuelos C, Xu-Bayford J, Bastone AL, John-Neek P, Jackson C, Moore TB, Gilmour K, Schambach A, Rothe M, Kasbekar S, Rao GR, Patel K, Shah G, Thrasher AJ, Bueren JA, Schwartz JD, Kohn DB. Lentiviral Gene Therapy for Severe Leukocyte Adhesion Deficiency Type 1. N Engl J Med. 2025 May 1;392(17):1698-1709. doi: 10.1056/NEJMoa2407376.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Donald Kohn, MD principal investigator
University of California, Los Angeles
Claire Booth, MBBS, PhD, MSc principal investigator
University College London Great Ormond Street Institute of Child Health
Julian Sevilla, MD, PhD principal investigator
Hospital Infantil Universitario Niño Jesús
3 sites in 3 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Leukocyte Adhesion Deficiency, run by Rocket Pharmaceuticals Inc. at 3 sites in 3 countries.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 4 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: under way, not looking for participants, as of the sponsor's last update on 18 Dec 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 3 sites in United States, Spain, United Kingdom. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Hematopoietic stem cell transplant (HSCT) free survival (time frame: 15 years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT06282432, which also lists 1 linked publication.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 18 Dec 2025.