The National Institutes of Health (NIH) has launched a second therapeutic clinical trial for people with APS Type 1 called a Randomized Stepped Wedge Study of Emapalumab in APECED Enteritis. This exciting development is the result of a long-standing collaboration between Dr. Lionakis’ Lab at the NIH and the APS Type 1 community. Building on extensive research in APS Type 1, including the Phase 2 trial studying Ruxolitinib, the objective of this study is to test a drug called emapalumab in people with enteritis caused by APECED.
Objectives
The primary objective is to evaluate the efficacy of emapalumab on gastrointestinal (GI) symptoms as measured by the APECED enteritis score (APECED ES) in participants with APECED enteritis.
Secondary objectives include:
- To evaluate the effect of emapalumab on histologic and immunologic features of the GI tract.
- To evaluate the safety of emapalumab in participants with APECED enteritis.
- To assess additional measures of efficacy related to amelioration of intestinal dysfunction in response to emapalumab treatment.
- To investigate the effect of emapalumab on PROs related to GI symptoms.
Exploratory objectives include:
- To investigate the effect of emapalumab on improving clinical symptoms and associated laboratory, histologic, and immunologic abnormalities in affected organs and tissues beyond the GI tract.
- To investigate the effect of emapalumab on PROs of affected organs and tissues beyond the GI tract.
- To investigate the effect of emapalumab on prevention of development of new APECED-associated complications during the treatment period.
- To examine the effects of emapalumab on ameliorating immunologic readouts of excessive IFN-gamma/JAK/STAT signaling in peripheral blood and affected organs and tissues beyond the GI tract.
- To determine whether emapalumab treatment affects the composition of microbial communities at the mucocutaneous barriers.
- To describe the pharmacokinetics (PK) of emapalumab in this population.
Eligibility
This trial is open to people aged 2 to 75 years with APECED and enteritis. They must also be enrolled in the NIH’s natural history study on APECED (protocol 11-I-0187).
Design
Participants will have 10-13 study visits in an 18-month period.
Participants will be screened. They will have a physical exam with blood tests. These tests will be repeated at every study visit. They will have a test of their heart function. This will be at screening and prior to drug administration.
Other tests are optional: Participants may have imaging exams and a test of lung function. They may have an endoscopy, which is an exam of their digestive tract. Participants may provide samples of urine, stool, nail clippings, saliva, vaginal fluid, or skin. Photos may be taken of their skin or scalp. These tests may be repeated at some visits.
Emapalumab is given through a tube attached to a needle inserted into a vein. All participants will receive 7 doses: 2 on their first study visit; then 1 each at 30-day intervals. Some participants will have an observation period before they begin taking the drug; in those situations, they will either be seen in person or via video visit every 2 months before starting emapalumab to see how their symptoms change over time.
Participants will have a follow-up visit 1 month after their last dose. Then they will have 2 telehealth visits at 30-day intervals. They will have a final clinic visit 1 year after their first dose.
Additional Information
Name of Protocol
A Phase 2 Randomized Stepped Wedge Study of Emapalumab in APECED Enteritis
Sponsor
National Institute of Allergy and Infectious Diseases (NIAID)
Primary Investigator
Michail S. Lionakis, M.D.
Protocol Details
Click here for more details.
Clinical Trials Number
NCT07202598
Enrollment & Eligibility
For enrollment and eligibility information, please contact the study team at NIAIDEmapalumabStudy@mail.nih.gov.
Other NIH Studies
For information about other NIH studies, please visit clinicaltrials.gov.
