Ustekinumab (Anti-IL-12/23p40 Monoclonal Antibody) in Patients With Leukocyte Adhesion Deficiency Type 1 (LAD1) Who Have Inflammatory Pathology

Conditions

• LAD1

Eligibility Criteria

Sex

ALL

Age

12 Years - 65 Years

Healthy Volunteers

Not accepted

Interventions

• Ustekinumab — DRUG
  0.75 mg/kg or 45 or 90 mg via subcutaneous injection for 5 doses (second dose 4 weeks after first, subsequent doses every 12 weeks thereafter).

Study Details

Background: The disease leukocyte adhesion deficiency type 1 (LAD1) affects white blood cells. Those are immune system cells. In people with LAD1, white blood cells do not properly communicate with the rest of the body. This causes uncontrolled inflammation, particularly in the gums. People with LAD1 can get frequent infections and tend to lose their teeth before adulthood. Researchers want to see if a drug called ustekinumab helps people with LAD1. Objective: To study the safety and tolerability of ustekinumab in treating gum inflammation in people with LAD1. Eligibility: People ages 12 65 with LAD1 Design: Participants will be screened with: * Medical history * Physical exam * Oral exam * A scan of the chest, abdomen, and pelvis for possible infection * Blood and urine tests The baseline visit will take 2 days. Participants will: * Repeat most screening tests * Have a skin exam * Have small pieces of their gums removed (biopsy) * Have mouth fluids collected * Get the study drug injected under the skin of the abdomen, thigh, or elsewhere on the body. They will be watched for at least 2 hours. Participants will be instructed on tracking how they are feeling and any side effects. Participants will have 4 more visits over 40 weeks. They will get the study drug and repeat the baseline tests. Participants may have up to 5 more tissue biopsies. Participants will be called between visits to discuss how they are feeling and side effects. Participants will have a final visit 52 weeks after the baseline. They will repeat most of the baseline tests. Participants will answer questions about their oral ulcers.

Key Dates

Start date

Jul 2, 2018

Status verified

Oct 2024

Primary completion

Oct 16, 2024

Completion

Oct 17, 2024

Study Design

Enrollment

6 participants (actual)

Allocation

NA

Intervention model

SINGLE_GROUP

Primary purpose

TREATMENT

Arms

• Experimental: Single Arm
  treatment with ustekinumab based on weight

Primary Outcome Measure

Evaluate the safety and tolerability of ustekinumab in treating LAD1 affected patients who have inflammation, such as gingival, skin or gut. [ Time Frame: 13 months ]

Locations (1)

Find similar trials in Bethesda, MD