Xeroderma Pigmentosum

Researchers are studying the use of a 2,910 nm mid-infrared Fiber Laser UltraClear, Acclaro Medical to treat advanced perioral lines and wrinkles. The goal is to assess the lasers effectiveness for skin rejuvenation by using both superficial epidermis ablation and deeper skin layers ablative and coagulative effects. The study also aims to evaluate safety and participant satisfaction with this resurfacing treatment for photodamaged skin and wrinkles. Participants will receive up to two treatments with the UltraClear laser, spaced 6 to 8 weeks apart. These treatments focus on improving the appearance of perioral lines and wrinkles using the lasers combined superficial and deep skin effects. Following treatments, participants will have follow-up visits at 1 month and 3 months to evaluate the results and any side effects. Throughout the study, researchers will measure improvements using multiple scales, including the Fitzpatrick Wrinkling and Degree of Elastosis Scale, Physician Global Aesthetic Improvement Scale, and assessments by independent photographic reviewers. Participants will also report their own perceptions of aesthetic improvement and satisfaction. Safety and overall aesthetic outcomes will be monitored during follow-ups, with the total participation lasting through the 3 months after the final treatment.

Researchers are evaluating Autologous Adipose Cell Therapy to improve skin rejuvenation and hair restoration. This therapy aims to overcome the limitations of traditional fat grafting and dermal fillers by isolating early-stage fat cells for better distribution and longer-lasting effects. The study focuses on assessing the safety, feasibility, and effectiveness of this therapy for conditions like wrinkles, fine lines, skin elasticity loss, pigmentation, hair thinning, and hair loss. Participants will receive the Autologous Adipose Cells therapy treatment, which involves processing fat cells from their own body to enhance skin and hair appearance. The therapy is monitored by the primary investigator for up to 25 weeks to evaluate outcomes. This study includes only one treatment group receiving this biological intervention. During the study, participants will undergo various assessments including imaging, satisfaction surveys, and evaluation reports from the first visit before treatment through the last follow-up visit between weeks 16 and 25. The plastic surgeon will monitor treatment effects and safety over a six-month period. The total involvement spans from initial treatment to multiple follow-ups to track skin and hair improvements and participant satisfaction.

Researchers are evaluating whether the LensHooke CA0 device can lower DNA fragmentation in sperm samples compared to the traditional gradientswim-up technique. The study aims to answer key questions about sperm quality, including DNA fragmentation, concentration, motility, and morphology. It also looks at fertilization, embryo development, and pregnancy rates between the two sperm processing methods. Participants will provide one semen sample, which will be split and processed using both the LensHooke CA0 device and the gradientswim-up technique. Half of the female partners eggs will be fertilized using sperm prepared by one method, and the other half with sperm from the other method. Outcomes such as DNA damage, sperm concentration, and embryo development will be compared between these two approaches. During the study, researchers will measure the percentage of sperm with DNA fragmentation and sperm concentration from enrollment until about one month after sample collection. They will also monitor embryo fertilization, development, and pregnancy rates. This trial involves follow-up assessments around the time of fertilization and embryo development to track the impact of each sperm processing technique.

Researchers are studying the effectiveness and tolerability of a hybrid non-ablativeablative laser called the Sciton Halo for treating acne scars, especially in people with darker skin tones Fitzpatrick IV and V. Acne scarring can negatively impact quality of life and mental health, and current treatments have limited evidence for their benefit. This study focuses on improving acne scars with this newer laser technology that combines two wavelengths for targeted skin treatment. Participants receive treatment with the Sciton Halo hybrid fractional laser in two groups based on skin type. Each group will have 23 participants with either Fitzpatrick skin types IV-V or I-III. At the first visit, participants provide consent, receive education on the procedure and sun care, and are given sunscreen. They may be prescribed hydroquinone or retinol to prevent hyperpigmentation, starting treatment after one month if they choose. Treatment involves up to three laser sessions, with the number depending on improvement. Before and after photos are taken at each session, and participants complete quality of life and satisfaction surveys. During the study, participants will be monitored regularly up to nine months. Assessments include changes in acne scar severity, clinician and patient evaluations of improvement, skin texture, pigmentation, and overall satisfaction. Researchers will also track adherence to skin care, sunscreen use, sun avoidance, side effects, and pain. The study aims to measure both clinical outcomes and patient experiences over time to evaluate the lasers impact on acne scars in skin of color.

Researchers are evaluating a new cosmetic formula to treat facial hyperpigmentation caused by three conditions mild to moderate melasma, mild to moderate acne-induced post-inflammatory hyperpigmentation, and solar lentigo. This open, single-center study aims to assess the products effectiveness, cosmetic acceptability, and its impact on reducing stigma associated with these skin conditions. The study follows ethical guidelines and good clinical practices to ensure proper conduct and data analysis. The study involves applying the tested product twice daily, in the morning and evening, along with using sunscreen in the morning and at midday for three months. Participants are grouped based on their specific type of hyperpigmentation melasma, acne-induced hyperpigmentation without active acne, or solar lentigo. Each participant will use the product under normal conditions, with before-and-after comparisons to evaluate changes. Participants will be assessed at the start and after 84 days to measure skin changes using various pigmentation scores specific to each condition. Researchers will also use colorimetry to quantify skin color changes. Safety data will be recorded but not statistically analyzed. The study expects to include about 20 patients per group and will observe participants throughout the three-month treatment period to monitor efficacy and tolerability.

This research aims to analyze individual radiosensitivity in children and adolescents with cancer, focusing on how their bodies respond to radiation therapy. It targets pediatric patients treated for brain tumors, Ewing tumors, malignant mesenchymal tumors, neuroblastoma, nephroblastoma, or Hodgkins lymphoma who are undergoing radiotherapy, sometimes alongside chemotherapy, for curative purposes. The study is sponsored by Neolys and investigates a blood test called RadioDtect to predict radiation-related toxicities. Participants will provide blood samples to perform the RadioDtect test, which involves collecting two 5 ml blood samples. The study evaluates the tests ability to identify early and late radiation-induced toxicities over periods of 12 and 24 months. The radiation treatments follow standard fractionation schedules, typically 1.8 Gy to 2.2 Gy per fraction, five fractions per week. During the study, participants will undergo blood sample collection and be monitored for any side effects related to radiation therapy. Researchers will assess early and late radiation-induced toxicities to validate the tests predictive capacity. The study includes follow-up assessments up to 24 months to track outcomes, with participation lasting through these evaluation periods.

Researchers are evaluating the Anthelia Intense Pulsed Light IPL medical device for treating various skin conditions including excessive hairiness, vascular lesions, pigmented lesions, and acne vulgaris. The study is a post-market clinical trial conducted to assess the devices effectiveness and safety in these skin disorders. The IPL device has been FDA-cleared since 1995 and is noted for its cost-effectiveness and versatility compared to single-spectrum lasers. Participants will receive treatment with the Anthelia IPL device during multiple visits, following the devices instructions for use. The treatments target unwanted hair, varicosities, rosacea, solar lentigines, and facial acne, with specific inclusion criteria for skin types and condition characteristics. The study includes follow-up periods ranging up to 18 months to evaluate treatment effects. During the study, participants will undergo assessments to measure effectiveness using scores such as IRBMS, DLQI, and ECLA for acne patients. Safety and treatment response will be monitored over periods from 4 to 18 months depending on the condition treated. Participants will be evaluated regularly to track improvements in hairiness, vascular and pigmented lesions, and acne, ensuring comprehensive monitoring throughout the trial.

Researchers are expanding the eyeGENE program, a research resource focused on inherited eye diseases such as aniridia, Best disease, blue-cone monochromacy, corneal dystrophy, and disorders of pigmentation including albinism. This program collects genetic and clinical data to help understand the genetic causes of these conditions and support the development of better treatments. The study aims to gather more participants with these rare eye diseases and their unaffected close relatives. Participants provide saliva samples using a kit sent to them, which they mail back for DNA analysis. Some may also be asked to provide blood samples, collected either at the National Eye Institute or a local clinic. The study collects phenotypic information, genetic testing results, and eye images, which are stored in the eyeGENE data repository and shared anonymously with researchers studying inherited eye diseases. During the study, participants will contribute data including eye exam results and medical history, with personal identifiers removed to protect privacy. Researchers will use this information to expand the eyeGENE data repository over 30 years, enhance recruitment for clinical trials, and study the relationship between genetics and symptoms for rare eye diseases. Participation involves sample collection and data sharing, with safety monitored throughout the study period.

Researchers are conducting a single-center, single-arm, non-interventional natural history study to observe the progression and clinical features of DNA repair disorders, including Cockayne syndrome, xeroderma pigmentosum, and trichothiodystrophy. The study aims to establish a reliable baseline course of these disorders, using the Early Childhood Assessment of Balance ECAB as the primary measurement and other functional and exploratory tests to support future therapeutic trials. Participants diagnosed with DNA repair disorders will undergo regular assessments including interval health history reviews, physical and neurological examinations by a neurologist, ECAB balance assessments, gait evaluations, and collection of blood and saliva samples. These assessments will be conducted over a three-year period to monitor changes in motor and neurological functions. Family members without the disorder will serve as control participants with fewer assessments. During the study, participants will be evaluated on motor function stability using tests like gait speed, the 10-meter walkrun, Timed Up and Go TUG, and Dynamic Gait Index DGI. Health status, cognitive and motor changes, and balance will be closely monitored. Blood and saliva samples will be collected with volume limits to support biomarker research. The total duration of involvement is approximately three years, with no intervention or treatment provided.

Researchers are studying advanced biliary tract cancer in patients whose disease has certain DNA damage repair gene mutations. This trial aims to find out if maintenance treatment with olaparib alone or combined with durvalumab can improve outcomes after patients have completed first-line platinum-based chemotherapy. The study addresses the need for effective maintenance therapies, as current treatments offer limited progression-free survival after initial chemotherapy. Participants will receive one of two treatments olaparib taken twice daily, or olaparib combined with durvalumab given intravenously every four weeks. Both treatments are given over regular cycles. The study is randomized and open-label, comparing the combination therapy against olaparib alone. This phase 2 trial evaluates the safety and effectiveness of these maintenance options for patients with unresectable or metastatic biliary tract cancer. During the study, participants will be monitored through clinical visits to assess treatment effects and side effects, including progression-free survival measured at six months as the primary outcome. Additional outcomes include overall survival, response rates, and toxicity profiles tracked over up to one year. Regular exams and lab tests will help track health status and treatment tolerance. The study lasts until disease progression or unacceptable toxicity, with careful follow-up throughout.