Keratosis

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 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.

Darier disease is a rare genetic skin condition caused by mutations in the ATP2A2 gene, leading to inflammatory and keratotic skin lesions that are often itchy and painful. These lesions mainly appear in oily skin areas and folds, significantly affecting patients' quality of life. The disease frequently results in skin infections and inflammation, with current treatments mostly providing symptomatic relief and limited effects on inflammation and itching. This research aims to compare the skin microbiota in affected versus unaffected areas in patients with moderate to severe Darier disease and to explore associated cytokine profiles and their relationship with clinical features. The study involves 40 adults with moderate to severe Darier disease. Participants will undergo procedures including two 5 mm skin biopsies from both lesional and non-lesional trunk areas, a 20 ml blood sample for plasma extraction, tape-stripping of lesional skin, and swabbing of both lesional and non-lesional skin areas. These samples will help characterize microbiotic and cytokine profiles and assess their links to disease severity. All assessments occur on the first day of study participation. Participants will provide skin and blood samples during a single visit where researchers will analyze microbial genomes, cytokine levels in the skin, and correlations with clinical features. The primary outcome is the comparison of microbiotic profiles between affected and unaffected areas. Secondary outcomes include detailed cytokine characterization and associations with patient symptoms. The study is sponsored by the University Hospital in Toulouse and is expected to complete by September 2025.

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 observational study focuses on patients with genodermatoses and their partners who wish to have children, exploring their decision-making process and views on reproductive options. It also aims to understand how well healthcare professionals such as clinical geneticists and dermatologists are informed about these reproductive choices and how they counsel patients. The study covers various genodermatoses groups including keratinisation disorders, skin fragility diseases, ectodermal dysplasias, dermato-oncogenetic syndromes, and others. Participants will take part in individual semi-structured qualitative interviews to share their perspectives on reproductive decision-making and counselling. The study includes affected patients and partners, as well as healthcare professionals involved in the care of genodermatosis patients. These interviews aim to gather detailed insights from each group regarding their knowledge and views on reproductive options. During the study, researchers will assess the perspectives of patients, partners, and healthcare providers concerning reproductive decisions. This assessment will take place over one day per participant. The study is led by Maastricht University Medical Center and involves no treatment interventions, focusing solely on interviews to collect qualitative data. Participation involves sharing personal views and experiences related to reproductive counselling.

Researchers are evaluating the efficacy and safety of reformulated Levulan Kerastick (aminolevulinic acid HCl 20%) combined with photodynamic therapy (PDT) for treating actinic keratosis (AK) lesions on the face or bald scalp. This Phase 3, randomized, multi-center, evaluator-blind, vehicle-controlled study involves about 160 adult patients having 4 to 8 mild to moderate AK lesions. The study aims to compare different treatment approaches and incubation times to understand their effects on AK clearance and patient satisfaction. Participants will be assigned to one of four groups based on treatment type—either the active drug Levulan or a vehicle without active ingredient—and one of two incubation times before blue light therapy is applied. Up to two PDT sessions may be given depending on how the lesions respond. The study includes both drug and device interventions, specifically topical solutions and a blue light PDT device. During the study, participants will undergo multiple assessments including evaluations of lesion clearance, changes in lesion count and size, cosmetic response, and patient satisfaction at various time points up to 24 weeks. Safety will be monitored through adverse event reporting, skin reaction assessments, vital signs, and laboratory tests. The main outcome measure is the complete clearance rate of AK lesions at 12 weeks. Participants will be followed closely to assess treatment effects and safety over the study period.

Researchers are evaluating the efficacy and safety of a reformulated Levulan Kerastick solution containing aminolevulinic acid hydrochloride (ALA HCl) 20%, combined with photodynamic therapy (PDT), for treating actinic keratosis (AK) lesions on the upper extremities. This Phase 3, randomized, multi-center, evaluator-blind, vehicle-controlled study focuses on adults with 4-8 mild to moderate AK lesions on one arm. The study aims to assess complete clearance of AK lesions and other related outcomes including partial clearance, lesion count changes, recurrence, cosmetic response, and patient satisfaction. Participants will be randomly assigned to receive either the active treatment with reformulated Levulan Kerastick plus blue light PDT or a vehicle solution plus blue light PDT. Treatment involves applying the solution with occlusion and incubation followed by exposure to blue light using the BLU-U4170E device. Up to two PDT sessions may be administered depending on lesion clearance. The study includes a control group receiving the vehicle solution to compare outcomes. During the study, participants will undergo evaluations at multiple time points including weeks 4, 8, 12, 20, and 24 to assess lesion clearance, cosmetic response, and patient satisfaction. Safety monitoring includes checks for adverse events, local skin reactions, vital signs, and laboratory tests. The primary outcome, complete clearance rate, will be measured at week 12. The total study duration involves follow-up through week 24 to assess sustained effects and recurrence rates.

Researchers are investigating the effects of tapinarof, a naturally occurring compound used in psoriasis treatment, on adults with palmoplantar keratoderma, a condition characterized by thickened skin on the palms and soles. This phase II open-label study aims to evaluate how well tapinarof works and how safe it is for treating or stopping keratoderma. The study will gather early data to guide future controlled trials needed for regulatory approval. Participants will apply tapinarof 1% cream to affected areas once daily for a 16-week treatment period. Those who achieve disease clearance after 16 weeks may stop treatment and will be monitored for up to 52 weeks to see if the condition returns. Participants who do not clear the disease will continue treatment for up to an additional 36 weeks or until clearance is reached. Follow-up visits throughout the study assess treatment response and safety. During the study, participants will have regular skin assessments, photographs, and complete questionnaires about their skin condition and quality of life. Researchers will measure outcomes using the Physician's Global Assessment at 16 weeks and monitor for any treatment-related side effects throughout the 52-week study period. The study involves ongoing evaluation of skin health and patient-reported outcomes to understand the treatment's impact and safety.

Researchers are studying the combined use of topical Imipramine and topical photodynamic therapy (PDT) to see if this combination affects pain after treatment. PDT is a common dermatology treatment for people with many precancerous skin lesions called actinic keratosis (AK). Both Imipramine and PDT are FDA-approved treatments, but their combined use has not been evaluated before. Animal studies suggest Imipramine might reduce pain from PDT and improve its effectiveness. Participants will receive either topical 4% Imipramine or a placebo vehicle before PDT treatment. The study is randomized and double-blinded, meaning participants are randomly assigned to one of the two treatment groups without knowing which they receive. The treatments will be applied to areas such as the face, scalp, or forearms where PDT is needed. During the study, participants will be monitored for pain and itch levels immediately after PDT treatment, at 10 minutes, 30 minutes, and again at 6 months post-treatment. The main measure is the number of precancerous AK lesions remaining six months after PDT. The study will track safety and treatment effects over this time, ensuring participants understand the process and follow sun exposure precautions. The total study duration extends up to six months post-treatment.