Ongoing Clinical Trials for Netherton Syndrome
Currently, there are 3 ongoing clinical trials investigating new treatments for Netherton syndrome, a rare genetic skin disorder. These studies are testing topical creams and injectable medications that aim to reduce inflammation and improve skin symptoms. Trials are being conducted across multiple European countries including Austria, Belgium, Bulgaria, Czechia, Finland, France, Germany, Italy, Netherlands, Portugal, Spain, and Sweden.
Clinical trial locations
- Austria
- Belgium
- Bulgaria
- Czechia
- Finland
- France
- Germany
- Italy
- Netherlands
- Portugal
- Spain
- Sweden
Study on the Safety and Effectiveness of SXR1096 Cream for Patients with Netherton Syndrome
This trial is testing SXR1096 cream, a topical treatment applied directly to affected areas of the skin. The cream is designed to target specific proteins involved in the symptoms of this condition.
Who can participate: Adults aged 18 to 65 years, and adolescents aged 12 to 17 years (after an initial safety period with adults) may join this study. Participants must have a confirmed clinical diagnosis meeting at least 3 out of 4 specific criteria, including neonatal erythroderma (skin redness present at birth), bamboo hair and/or hair loss, chronic allergic conditions lasting at least 2 years, or ichthyosis linearis circumflexa (circular scaly patches). The condition must affect at least 20% of the body surface area. Participants must also have either absent LEKTI protein on a skin biopsy or a confirmed mutation in the SPINK5 gene. Women of childbearing age must use highly effective contraception during the study and for 4 weeks after treatment ends.
Who cannot participate: People who do not have a confirmed diagnosis, children younger than 3 years old, and individuals who are part of vulnerable populations cannot take part in this study.
What the study involves: Participants will apply the cream to specific areas of skin, each approximately 9% of the body surface area (similar to the size of one arm). Regular assessments will monitor safety and track changes in skin appearance and condition using a scoring system. The study focuses on evaluating whether the cream can improve symptoms such as redness, scaling, and itching, while carefully monitoring for any side effects.
Study on the Safety of DS-2325a for Patients with Netherton Syndrome
This trial is investigating DS-2325a, a biological medicine known as a fusion protein. The medication can be given either as an injection under the skin or as an infusion into a vein.
Who can participate: Adults aged 18 to 65 years may join this study. Participants must have a clinical diagnosis meeting at least 3 out of 4 criteria, including neonatal erythroderma, bamboo hair and/or hair loss, chronic allergic conditions for at least 2 years, or specific types of skin scaling. The condition must affect at least 20% of the body surface area at both the screening and baseline visits. Participants must have previously received treatment that did not work and must have documentation showing absence of LEKTI protein or confirmed SPINK5 gene mutations. They must also be willing to have skin samples collected using a tape method.
Who cannot participate: People without a confirmed diagnosis, children younger than 3 years old, those unable to follow study procedures, people with other serious health conditions that might interfere with the study, pregnant or breastfeeding women, those who recently participated in another clinical trial, and people with allergies to the study medication cannot participate.
What the study involves: The main goal is to explore the safety and tolerability of DS-2325a. Participants will be monitored for any adverse events, including injection site reactions. Regular physical examinations, blood and urine tests, and electrocardiograms will be conducted. Participants will complete questionnaires about itching and quality of life. Optional skin biopsies may be taken to assess the medication’s presence in the skin. The study is double-blind, meaning neither participants nor researchers will know who receives the actual treatment versus a placebo.
Study to Evaluate the Effectiveness of Spesolimab in Treating Patients with Netherton Syndrome
This trial is testing spesolimab, a monoclonal antibody medication. Monoclonal antibodies are proteins made in a laboratory that can bind to specific targets in the body to help treat disease. The medication will be given as a solution for infusion (through a vein) and as an injection under the skin.
Who can participate: Patients must be at least 12 years old and weigh at least 35 kg (about 77 pounds). They must have a confirmed diagnosis linked to specific SPINK5 genetic mutations and at least moderate severity of skin redness with specific medical assessment scores (IASI score of 16 or higher, IASI-E score of 8 or higher, and IGA score of 3 or higher). Women of childbearing potential must use highly effective birth control methods throughout the study.
Who cannot participate: People with any other skin condition that might interfere with the study, those who have had a serious infection in the past 4 weeks, those who received another investigational drug within the last 30 days, pregnant or breastfeeding women, people with a history of severe allergic reactions to medications, those with significant medical conditions that might make participation unsafe, people vaccinated with a live vaccine in the past 4 weeks, those with a history of drug or alcohol abuse in the past year, people currently in another clinical trial, and those with known HIV, hepatitis B, or hepatitis C infection cannot take part.
What the study involves: Spesolimab works by targeting specific parts of the immune system that may be overactive in this condition, aiming to reduce inflammation and improve symptoms such as skin redness, scaling, and itching. Participants will receive regular check-ups and assessments to evaluate the treatment’s effectiveness and safety. They will be asked to report any changes in their condition or side effects. A final evaluation will be conducted at the end of the study to assess overall response to treatment.
Summary
Three clinical trials are currently underway to test new treatments for Netherton syndrome across Europe. The studies are exploring different approaches: a topical cream (SXR1096) that patients apply directly to their skin, and two injectable or infused medications (DS-2325a and spesolimab) that target the immune system to reduce inflammation.
The spesolimab trial has the widest geographic reach, operating in 11 European countries including Belgium, Italy, Spain, Germany, France, Portugal, Netherlands, Austria, Czechia, Bulgaria, and Finland. The SXR1096 cream study is being conducted in Sweden, Austria, France, and Germany, while the DS-2325a trial is currently only active in France.
All three studies require participants to have a confirmed diagnosis with documented genetic mutations in the SPINK5 gene or absence of LEKTI protein. The condition must affect a significant portion of the body surface area (at least 20%) for enrollment. Each trial has specific age requirements, with the SXR1096 and spesolimab studies accepting participants as young as 12 years old (with certain conditions), while DS-2325a is limited to adults aged 18 to 65.
These trials represent important research efforts to find effective treatments for this rare genetic skin disorder, focusing on improving symptoms such as skin redness, scaling, and itching while carefully monitoring patient safety.
