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Base Editing Hematopoietic Stem Cell and T Cell Gene Therapy for CD40L-HyperIgM Syndrome: Single Patient Study

NCT06959771 · Status: RECRUITING · Phase: PHASE1/PHASE2 · Type: INTERVENTIONAL · Enrollment: 1

Last updated 2026-03-27

No results posted yet for this study

Summary

Background:

X-linked hyper-IgM (HIGM) syndrome is caused by a mutation in the CD40 ligand (CD40L) gene. People with this disease have white blood cells that do not work properly. These people are at risk of severe infections and autoimmune diseases. Researchers want to know if these base-edited stem cells and T cells can help people with CD40L-HIGM syndrome.

Objective:

To test base-edited stem cells and base-edited T cells in 1 person with CD40L-HIGM syndrome.

Eligibility:

A single male with CD40L-HIGM syndrome.

Design:

A single participant is planned to receive a single dose of edited stem cells and supportive treatment with edited T cells. Participant stem and T cells will undergo base editing to repair the mutation.

In preparation for the gene therapy, the participant will receive busulfan chemotherapy and alemtuzumab. After treatment, the participant will have follow-up visits every few months in the first 2 years after treatment. Long-term visits will continue annually for 15 years.

Conditions

  • CD40L-HyperIgM Syndrome

Interventions

BIOLOGICAL

Base-edited hematopoietic stem and progenitor cells

The study cell product is base edited autologous HSPCs which will be administered as a one-time infusion following myeloid conditioning.

DRUG

Alemtuzumab

Serotherapy agent, 10 mg/m\^2 on days -21, -20 and -19

DRUG

Sirolimus

Immunophilin drug, will start on day -1, targeting a trough level between 4-12 ng/mL.

DRUG

Palifermin

Mucositis prophylaxis agent, will be administered at 60 mcg/kg/day for 3 days before initiation of busulfan (days -6 to -4), as well as for the 3 days following study agent administration (days 1 to 3).

DRUG

Busulfan

Myeloid conditioning agent, administered once daily (3 mg/kg) x 2 days, targeting a daily AUC of 4500 micromol\*min/L or a cumulative AUC of 9000 micromol\*min/L for the 2 days of therapy, if levels are available

BIOLOGICAL

Base-edited T lymphocyte cells

The secondary study cell product is base edited autologous which will be administered as a one-time infusion two weeks following the infusion of the base-edited autologous HSPCs.

Sponsors & Collaborators

  • National Institute of Allergy and Infectious Diseases (NIAID)

    lead NIH

Principal Investigators

  • Suk S De Ravin, M.D. · National Institute of Allergy and Infectious Diseases (NIAID)

Study Design

Allocation
NA
Purpose
TREATMENT
Masking
NONE
Model
SINGLE_GROUP

Eligibility

Min Age
37 Years
Max Age
120 Years
Sex
MALE
Healthy Volunteers
No

Timeline & Regulatory

Start
2025-07-16
Primary Completion
2027-10-28
Completion
2027-10-28
FDA Drug
Yes

Countries

  • United States

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT06959771 on ClinicalTrials.gov