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, a drug being studied for safety, tolerability, how it moves through the body, and immune response in healthy adults and people with Netherton syndrome. This first-in-human, Phase 11b study includes multiple parts to assess single and multiple doses in healthy volunteers and multiple doses in individuals with Netherton syndrome. The study also aims to evaluate the drugs effectiveness, safety, and tolerability over 12 weeks in adults and adolescents with this condition. The study has four parts Parts 1 and 2 are randomized, placebo-controlled phases testing single and multiple ascending doses in healthy participants. Part 3 uses an open-label design to evaluate multiple doses in participants with Netherton syndrome. Part 4 assesses multiple intravenous andor subcutaneous doses over 12 weeks in adults and adolescents with Netherton syndrome, followed by an 8-week post-treatment follow-up. Participants will undergo assessments including safety monitoring for adverse events, blood tests to measure drug levels and immune response, and evaluations of skin condition severity using specific scores like the Ichthyosis Area and Severity Index and Investigator Global Assessment. The study tracks these measurements from screening through follow-up, with some parts lasting up to 20 weeks. Participants are monitored closely to understand the drugs effects and tolerability during and after treatment.

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 skins 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 Investigators 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.

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.

Researchers are evaluating the safety, tolerability, and effectiveness of stem cell therapy for treating a variety of acute and chronic conditions. This multi-site, multi-arm study focuses on regenerative treatments using amniotic and umbilical cord stem cell rich tissue. The study covers conditions including autoimmune diseases, cardiovascular disorders, diabetes complications, integumentary diseases, musculoskeletal disorders, neurological and neurodegenerative disorders, pulmonary disorders, sexual dysfunction, urologic disorders, and viral illnesses. The goal is to measure improvements based on validated quality of life and condition-specific tools. Participants will receive injections of PrimePro or PrimeMSK stem cell products administered through condition-specific routes. Each study arm targets a particular group of conditions to compare outcomes against established research. The treatments are given once with follow-up visits planned to assess changes over time. No placebo or control group is used, and the study is non-randomized with open-label participation. During the study, participants will undergo various assessments such as the 36-Item Short Form Survey SF-36 for quality of life, condition-specific questionnaires like the DASH for arm and shoulder disabilities, IIEF-5 for erectile function, clinical COPD questionnaire, MMSE for mental state, OLearySant questionnaire for interstitial cystitis, Oswestry Low Back Pain Disability Questionnaire, and WOMAC for osteoarthritis. Follow-up evaluations occur at 6 and 12 months after treatment to monitor progress. The study includes safety monitoring and requires participants to be available for follow-up visits over this time frame.