Ongoing Clinical Trials for Familial Haemophagocytic Lymphohistiocytosis
There are currently 2 ongoing clinical trials exploring new treatment approaches for familial haemophagocytic lymphohistiocytosis. These studies are investigating gene therapy and protein-blocking medications to help manage this rare genetic immune system disorder. Trials are taking place in France and Germany.
Clinical trial locations
- France
- Germany
Gene Therapy Study for Familial Hemophagocytic Lymphohistiocytosis Using MUNC-CD34 and MUNC-T3 in Patients with UNC13D Gene Mutations
This trial in France is testing a new gene therapy approach for children and adolescents with familial haemophagocytic lymphohistiocytosis caused by changes in the UNC13D gene. The treatment involves taking the patient’s own stem cells and immune cells, modifying them outside the body to correct the genetic problem, and then returning them to the patient through an infusion.
Who can participate:
- Children aged 3 months up to 17 years old with confirmed UNC13D gene mutation
- Patients who have achieved complete remission, meaning their clinical symptoms and laboratory tests have returned to normal
- Those eligible for stem cell transplant but without a matching donor available, or whose previous transplant was unsuccessful
- Patients or their parents/guardians must provide informed consent
- For patients who can have children, agreement to use reliable birth control during the trial and for 12 months after treatment
Who cannot participate:
- Patients without a confirmed diagnosis of the condition
- Those not deficient in Munc 13.4 protein
- Patients unable to undergo the required medical procedures, including cell collection, conditioning treatment, or transplantation
- Those whose legal guardians cannot provide informed consent
What the trial involves: The study focuses on evaluating the safety and effectiveness of gene therapy using two investigational products: MUNC-CD34 and MUNC-T3. These are created from the patient’s own cells that have been modified using a lentiviral vector to carry a healthy version of the UNC13D gene. The modified cells are returned to the patient’s body in a single dose through an intravenous infusion. Researchers will closely monitor patients for side effects and observe how well the treatment controls the disease over time, with follow-up assessments continuing at 3 months, 6 months, and 12 months after treatment.
Study on Tadekinig Alfa for Patients with NLRC4 Mutation and XIAP Deficiency
This trial in Germany is examining the long-term safety and tolerability of Tadekinig alfa in patients with related genetic conditions called NLRC4 mutation and XIAP deficiency. These are autoinflammatory diseases where the immune system mistakenly attacks the body. This is an extension study, meaning it continues to monitor patients who participated in an earlier clinical trial.
Who can participate:
- Patients who participated in the previous clinical trial NLRC4/XIAP.2016.001
- Those who completed the first 18-week phase of the previous trial, regardless of whether they continued to the next phase
- Patients who had to stop the previous trial due to treatment failure must wait at least 4 weeks before joining this study
- The gap between finishing the previous trial and starting this study should not exceed 3 months
- Women of childbearing potential must have a negative pregnancy test at all visits and agree to use highly effective birth control methods during the study and for 1 month after treatment ends
Who cannot participate:
- Patients who did not participate in the previous clinical trial related to NLRC4 or XIAP conditions
- Those without the specific genetic mutations related to NLRC4 or XIAP
- Patients with other medical conditions that might interfere with the study
- Those unable to comply with study procedures or follow-up requirements
- Pregnant or breastfeeding patients
- Patients currently participating in another clinical trial that might affect results
What the trial involves: The study monitors the long-term safety of Tadekinig alfa, a medication given as an injection under the skin. Tadekinig alfa works by blocking a specific protein called IL-18, which is involved in causing inflammation. By reducing the activity of this protein, the medication aims to decrease symptoms and improve quality of life. Participants receive regular injections, and healthcare professionals monitor them throughout the study for any side effects or changes in their condition. The study includes regular assessments of how well the injection site tolerates the medication and how the body processes it.
Summary
These two clinical trials represent different approaches to managing rare genetic immune system disorders related to familial haemophagocytic lymphohistiocytosis. The French trial focuses on gene therapy for patients with UNC13D mutations, using cutting-edge techniques to modify patients’ own cells to correct the underlying genetic defect. The German trial examines a protein-blocking medication for related conditions involving NLRC4 and XIAP genes, focusing on long-term safety in patients who have already received initial treatment.
Both studies reflect the specialized nature of research into these rare genetic conditions, with trials located in countries with established expertise in treating complex immune disorders. The gene therapy approach represents a potentially transformative treatment strategy, while the Tadekinig alfa study provides important long-term safety data for managing chronic inflammation in these conditions. Patients interested in participating should discuss eligibility with their healthcare providers, particularly regarding the specific genetic mutations and prior treatment history required for each trial.