View clinical trials related to Ichthyosis, Lamellar.
Filter by:This study will evaluate the efficacy and safety of intravenous gentamicin in congenital ichthyosis due to a non-sens mutation. The primary objective is the severity of scales and erythema at the third month, compared to baseline. Secondary objectives will include: the importance of itching, trans epidermal water loss, cutaneous expression of the targeted protein, the security of the drug and patients' satisfaction.
The goal of this observational study is to learn about the presence of extracutaneous manifestations in patients with congenital ichthyosis. The main question it aims to answer is: - Do patients with congenital ichthyosis experience extracutaneous manifestations? Participants will fill in questionnaires in which the investigators will explore whether patients experience extracutaneous manifestations, and if so what these manifestations entail. Examples of such questions are whether patients experience (joint) pain or whether they experience hindrance due to their complaints.
Ichthyosis is a group of rare and chronic genetic diseases beginning at birth, in which the patient's skin is covered with scales of variable appearance and severity. This disease is disabling. The treatment is symptomatic and is based on the daily application of moisturizing creams with a high lipid content. Nevertheless, the effectiveness of these treatments is limited and are considered very painful by the patients. Wraps are local treatments carried out by specialized nurses and which consist in, following a therapeutic bath, applying a large quantity of cream to the whole body, followed by an occlusion. This type of care is simple to perform, but requires nursing expertise, to date, it is not carried out in standard practice in France, which is why the investigateur wish to evaluate the effect of wraps on different parameters reflecting the skin condition in the short and medium term.
KB105-02 is an intrasubject randomized, placebo-controlled, double-blind study to evaluate the safety and efficacy of KB105 in children and adults with autosomal recessive congenital ichthyosis (ARCI).
The goal of this observational study is to learn about the quality of life in patients with congenital ichthyosis. The main question it aims to answer are: • What is the impact of ichthyosis on the biological-psychological-social quality of life in adult and elderly patients with inherited ichthyosis ? Participants will take part in individual interviews in which the investigators will explore if and how ichthyosis impacts their quality of life. Examples of such questions are whether participants experience pain, experience struggles in their personal or professional lives, with sports activities or if participants experience a financial burden.
The goal of this study is to identify important biological pathways involved in a variety of ichtyosis, using transcriptomic and proteomic techniques, with the aim of guiding the development of new therapeutis.
This is a randomized, double-blind and vehicle-controlled Phase III study to evaluate the safety and efficacy of topical TMB-001 0.05% ointment for the treatment of CI in subjects with either the RXLI or ARCI subtypes. In addition, a subset of preselected centers will recruit subjects in parallel with either the RXLI or ARCI subtypes for enrollment into an Optional Maximal Use arm for evaluation of the systemic exposure and safety of topical TMB-001 0.05% ointment for the treatment of CI. The Phase III Study is designed in three periods: • Period 1 - Induction (3 weeks): At the beginning of the 3-week Induction Period, eligible subjects will be randomized (2:1 ratio) to either TMB-001 0.05% once-a-day (QD) or Vehicle QD treatment, with use of mandatory standardized bland emollient (Cetaphil™) provided by the Sponsor. • Period 2 - Treatment (9 weeks): The dosing frequency in the 9-week treatment period will be increased in each treatment group to TMB-001 0.05% BID or Vehicle BID. Mandatory bland emollient will be discontinued. • Period 3 - Maintenance (12 weeks): At Week 12, eligible subjects in the TMB-001 treatment group will be randomized (1:1 ratio) to an open-label treatment with TMB-001 0.05% BID or TMB-001 0.05% QD. To be eligible, subjects must have achieved a ≥1-point reduction in IGA score from Baseline. Subjects with less than a 1-point reduction in IGA score from Baseline will be discontinued from the study. Vehicle-treated subjects who achieved <1-point reduction in IGA score from Baseline are eligible to cross over to the TMB-001 0.05% BID treatment group. Subjects with a ≥1-point reduction in IGA score from Baseline will be discontinued from the study. Subjects at the end of the study or subjects discontinued from the study at any time will be followed-up for additional 2 weeks for AEs.
This is an experimental non-randomized clinical study aimed at expanding the indications for the use of biological drugs with the aim of using them for the pathogenetic therapy of children with congenital ichthyosis.
Efficacy and Safety of imsidolimab in Participants with Ichthyosis
The ichthyoses are a group of lifelong genetic disorders that share characteristics of generalized skin thickening, scaling and underlying cutaneous inflammation. The vast majority are orphan disorders and are associated with extremely poor quality of life related to social ostracism from altered appearance, associated itchiness and discomfort, and functional limitations from the skin disease. Among the more common "orphan" forms of ichthyosis are autosomal recessive congenital ichthyosis (ARCI; includes lamellar ichthyosis/LI and congenital ichthyosiform erythroderma/CIE), Netherton syndrome (NS) and epidermolytic ichthyosis (EI). However, there are dozens of other syndromic and non-syndromic ichthyotic disorders as well. Therapy is time-consuming for patients or parents and is supportive, focusing on clearance of the scaling. There are no therapies based on our growing understanding of what causes the disease. We have recently found marked elevations in Th17/IL-23 pathway cytokines and chemokines in the skin of individuals with ichthyosis, most similar to the inflammatory pattern of psoriasis. While the significance of the high expression of Th17/IL-23 pathway genes across all forms of ichthyosis studied to date is unknown, the high expression of genes of the Th17/IL-23 pathway in psoriasis is thought to be causative for the disease manifestations. We propose that IL-12/IL-23 -targeting therapeutics will safely suppress the inflammation and possibly the other features of ichthyosis, improving quality of life. As a proof-of-concept study, we propose to treat children (6 years of age and higher) and adults with ichthyotic disorders with ustekinumab in an open-label trial to serially assess clinical response to and safety of ustekinumab for this group of disorders.