Ichthyosis

This research aims to evaluate the treatment of deucravacitinib in adults with inflammatory epidermal genodermatoses, including conditions such as Epidermolysis Bullosa Simplex and various ichthyoses. The study focuses on assessing the efficacy and safety of this treatment for these rare skin disorders. It is a phase 2, open-label trial lasting 44 weeks conducted at a single center. Participants will undergo a treatment schedule divided into three periods: an initial 16-week treatment (challenge period), followed by a 12-week break from treatment (dechallenge period), and a second 16-week treatment period (rechallenge period). During these phases, participants will receive deucravacitinib and be closely monitored. The study uses a challenge-dechallenge-rechallenge design to evaluate treatment effects. Throughout the study, participants will attend eight visits where doctors will check their vital signs, perform clinical exams, and assess treatment adherence and any side effects. Participants will also complete questionnaires and provide blood samples. Researchers will primarily measure the efficacy of deucravacitinib at week 44 and monitor safety. The total participation duration is 44 weeks, ending with a final evaluation.

Researchers are evaluating the safety and pharmacokinetics of QTORIN rapamycin 3.9% anhydrous gel, called PTX-022, in adults with Pachyonychia Congenita (PC) who have specific keratin gene mutations and who previously participated in the PALV-05 (VAPAUS) trial. This open-label treatment study is conducted at multiple centers to better understand long-term exposure effects of the gel in this patient group. Participants receive the study drug PTX-022 applied as a gel, with the research focusing on monitoring safety and how the drug moves through and is processed by the body over time. The study does not have a placebo group or masking, and treatment details are based on prior enrollment and dosing established in earlier trials. Participants are monitored for treatment-emergent adverse events over six months, with pharmacokinetic measurements taken before dosing and at 12 and 24 hours after application. The trial assesses drug safety and how the body absorbs and metabolizes the gel during this period, helping researchers understand long-term use implications.

Researchers are evaluating BCX17725 in a first-in-human Phase 1/1b clinical trial to assess its safety, tolerability, pharmacokinetics, and immune response in healthy adults and participants with Netherton syndrome. The study includes four parts: Parts 1 and 2 focus on single and multiple ascending doses in healthy adults, Part 3 involves multiple doses in adults with Netherton syndrome, and Part 4 assesses the effectiveness, safety, and tolerability in adults and adolescents with Netherton syndrome over 12 weeks, followed by an 8-week post-treatment follow-up. Treatment involves randomized administration of BCX17725 or placebo in Parts 1 and 2, with single and multiple ascending doses respectively. Parts 3 and 4 use multiple doses of BCX17725 in participants with Netherton syndrome in open-label designs. Specifically, Part 4 includes intravenous and/or subcutaneous multiple doses over 12 weeks. Participants receive study drug or placebo according to the assigned group during each part. Participants will undergo monitoring for adverse events from screening through end of study, with assessments including skin severity scores such as the Ichthyosis Area and Severity Index and Investigator Global Assessment. Pharmacokinetics and immune response markers like anti-drug antibodies are measured up to specified days in each part. Part 4 includes follow-up assessments through Week 20. The total study duration varies per part, with detailed evaluations of safety, drug levels, and clinical skin outcomes.

Researchers are developing and managing the AnovaOS Network Powered Patient Registry to collect real-world patient data across various diseases globally. This registry aims to capture meaningful clinical information on diagnosis, infection course, treatments, and outcomes to enhance understanding and support future clinical trials and observational studies. The registry serves as a resource to better understand, prevent, diagnose, and treat diverse health conditions. Participants' data will be gathered through this registry, which can also be used to recruit individuals for clinical trials and observational studies on promising therapies. The registry collects ongoing information on patients' health status and treatments, enabling long-term monitoring and analysis. This observational study does not involve administering treatments but focuses on data collection and management. Participants will provide information through questionnaires or instruments, either personally or via an informed proxy, with an expected follow-up once per year. The research team will assess natural history, clinical effectiveness, safety, and quality of care over a period of five years. The registry includes patients with a wide range of conditions, and participation requires informed consent and the ability to complete follow-up data collection.

Researchers are studying the use of the AVAVA Device, a 1550nm Non-Ablative Fractional Laser, to treat various dermatologic conditions including acne, acne scars, wrinkles, pigment lesions, and skin texture disorders. The study aims to collect and analyze patient feedback on their overall experience with the device treatment. The primary focus is on responses to post-treatment questionnaires, while secondary measures include evaluations by physicians and patients regarding improvements and side effects. Participants will receive treatment using the AVAVA Device targeting their dermatologic condition. The study includes follow-up periods at 3, 6, and 12 months after the final treatment to assess outcomes. During these times, trained dermatologists will review before and after images, and both physicians and subjects will complete satisfaction and clinical improvement scales. The treatment process involves digital photography and adherence to specific skincare and sun exposure guidelines. Throughout the study, participants will complete questionnaires immediately after treatment and during follow-up visits to report their experience and tolerance of the procedure, including pain levels. Researchers will monitor the skin's response and improvements over time through imaging and clinical assessments. The study requires participants to comply with study instructions, maintain consistent skincare, and attend scheduled visits. The total participation duration spans from initial treatment through 12 months of follow-up.

Researchers are studying whether QRX003, an investigational topical lotion, can help treat Netherton syndrome, a genetic skin condition, in both adults and minors aged 14 years and older. The trial also aims to understand the safety of QRX003 and how it affects symptoms like diseased skin area, itching, and discomfort through clinical scores and patient self-assessments. This is an open-label expanded access study sponsored by Quoin Pharmaceuticals. Participants will apply QRX003 lotion containing 4% active drug twice daily to all affected skin areas except the scalp for a period of 12 weeks. The study involves only one treatment group receiving QRX003, with no placebo or comparator. The lotion is applied topically, and the participant follows a stable treatment regimen prior to starting the study. Participants will visit the clinic every 4 to 6 weeks during the 3-month treatment to undergo checkups and tests. They will keep a dosing diary to record each application of the lotion. The main outcome measured is the proportion of subjects who achieve at least a 1-point improvement on the Investigator's Global Assessment (IGA) scale by week 16. Safety monitoring and assessment of any need for rescue therapy are also part of the study. Total participation duration is approximately 3 months.

Researchers are evaluating the safety, tolerability, and treatment effects of ATR12-351, a topical ointment containing a modified live biotherapeutic product, in adults with Netherton Syndrome (NS). NS is a rare genetic disorder affecting skin, hair, and immune function, characterized by red, scaly skin, hair abnormalities, and high allergy risk. Currently, there are no FDA-approved treatments for NS, and this first-in-human study aims to address the underlying cause by replacing a deficient skin protein. The study applies ATR12-351 ointment to skin lesions on one side of the body and a placebo vehicle ointment to similar lesions on the other side twice daily for 14 days. Participants serve as their own control in this randomized, double-blind, vehicle-controlled design. The treatment period is followed by a total of 84 days of safety monitoring to assess adverse effects, drug absorption, and preliminary skin improvements. During the study, about 12 adult patients will have their skin reactions assessed through clinical evaluations and pharmacokinetic measures of drug levels in skin and plasma. Skin lesion severity and patient-reported outcomes will be recorded up to 42 days post-treatment. Safety will be closely followed for 84 days. This detailed monitoring helps researchers understand how the drug behaves in the body and its potential benefits for NS skin symptoms.

This observational study aims to prospectively evaluate the individual burden of nine rare skin diseases by assessing various aspects of disability, including psychological, social, economic, and physical impacts on patients and their families. The goal is to gain a comprehensive understanding of how these conditions affect daily life and care needs. The study uses two main indicators: first, an individual burden score derived from a specially designed questionnaire that patients or their families complete as a self-assessment to track changes in care and lifestyle; second, a descriptive analysis of all medical and non-medical resources used by the family to manage the disease. These tools help capture the broad impact of the diseases over time. Participants will be followed for an average of five years, during which researchers will collect data through surveys completed by patients and parents, monitor quality-of-life changes, validate clinical severity scores where needed, and analyze socioeconomic and healthcare costs. The study focuses on detailed evaluations of burden scores and their association with disease severity, aiming to provide a deep insight into the challenges faced by individuals affected by these rare skin diseases.

Researchers are collecting information from people with Pachyonychia Congenita (PC), a very rare and painful skin disorder that causes blisters, calluses on feet and hands, thickened nails, cysts, and other symptoms. This observational research registry aims to better understand the different traits and patterns of PC by gathering detailed patient information, photos, and optional medical notes. The Pachyonychia Congenita Project sponsors this international effort to help improve knowledge about this condition. Participants start by completing an online consent form and questionnaire that collects important details about their symptoms and helps distinguish PC from other conditions. They then provide photos of affected areas, which can be uploaded online or sent by email. After submission, participants have an intake call to review their information and discuss next steps. Some participants may be offered free genetic testing using a saliva sample collected at home and mailed in for analysis. This testing can take several months and helps provide a detailed genetic report to guide medical care and other support. During the study, participants contribute information once a year to help describe PC patterns and traits. All data and genetic testing results are kept confidential and reported anonymously. Participants may request additional consultations as needed. There is no cost for testing or assistance, and involvement can continue over several years. The registry helps researchers gather valuable information to better understand and support people living with this rare skin disorder.

This clinical trial investigates the use of ER004 as a prenatal treatment for male fetuses diagnosed with X-linked hypohidrotic ectodermal dysplasia (XLHED), a rare developmental disorder affecting skin, teeth, and sweat glands caused by mutations in the ectodysplasin A gene. The study is an open-label, prospective, non-randomized Phase 2 trial conducted internationally across multiple centers, aiming to confirm the safety and effectiveness of ER004 administered before birth. This trial addresses a critical unmet medical need since current treatments only manage symptoms without correcting the underlying cause. ER004 is a biologic protein designed to replace the missing EDA1 protein in affected individuals. The treatment involves three intra-amniotic injections given approximately three weeks apart starting from the 26th week of pregnancy, dosed based on estimated fetal weight. The trial includes a genotype-matched control group for comparison. The main study phase assesses efficacy and safety up to 6 months after birth, with a long-term follow-up extending assessments up to 5 years of age. Participants and their mothers undergo various evaluations including sweat volume measurements at 6 months, dental development, sweat pore density, ocular surface assessments, and monitoring for adverse events throughout the study period. Mothers are followed for safety up to one month after delivery. The trial compares treated subjects' sweating ability to that of untreated relatives or matched controls. The extensive follow-up includes assessments of hospitalizations, eczema, salivation, and ocular health, ensuring comprehensive monitoring over five years.