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 laser's 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 laser's 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 gradient/swim-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 gradient/swim-up technique. Half of the female partner's 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 evaluating the safety and effectiveness of a hybrid fractional laser to treat acne scars, especially in patients with darker skin tones (Fitzpatrick IV and V). Acne scarring, often caused by skin damage during healing, can negatively affect quality of life and mental health. Current treatments struggle with effectiveness and safety in skin of color, prompting this study to focus on a hybrid laser combining ablative and non-ablative components. The study involves two groups based on skin type: one with Fitzpatrick IV-V and another with Fitzpatrick I-III. Each participant receives up to three sessions of the Sciton Halo hybrid fractional laser, which uses two wavelengths to target different skin layers. Before treatment, participants receive education on the procedure and sun care, and may be prescribed hydroquinone or retinol to reduce the risk of hyperpigmentation. Treatment sessions include before and after photos, and participants complete surveys on quality of life and satisfaction. Participants will be involved for about eight months, with assessments at multiple points including baseline, 3, 5, and 8 months. These assessments measure changes in acne scar severity, patient satisfaction, and dermatology quality of life using standardized surveys. The study monitors tolerability and outcomes throughout, ensuring participants follow the treatment and follow-up schedule. The research aims to improve understanding of hybrid laser treatment effects 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 product's 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 evaluate the effectiveness, cosmetic acceptance, and impact on stigmatization of a tested serum formula used twice daily for three months in adults with mild to moderate facial hyperpigmentation. The study focuses on three types of hyperpigmentation: melasma, acne-induced post-inflammatory hyperpigmentation, and solar lentigo. These skin conditions result from excess melanin production due to factors like genetics, hormones, inflammation, acne, and sun exposure. Participants are divided into three groups based on their condition: those with mild to moderate melasma, those with mild to moderate acne-induced hyperpigmentation without active acne, and those with solar lentigo. All groups apply the serum formula to their face twice a day for three months. This open-label, single-center study compares skin condition before and after treatment to assess changes. During the study, participants will undergo assessments including Investigator's Global Assessment scores, pigment severity indexes specific to each condition, and colorimetry measurements to quantify skin color changes. The study tracks changes from baseline to day 84 to evaluate treatment effects. The trial follows ethical guidelines and includes safety monitoring throughout the participation period.

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 Hodgkin's 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 test's 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 test's 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 device's 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 device's 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 studying inherited eye diseases by expanding the eyeGENE program, a research resource that collects genetic and clinical information from people with various rare eye conditions. This effort aims to increase the number of participants with specific eye diseases such as aniridia, Best disease, blue-cone monochromacy, corneal dystrophy, and pigmentation disorders like albinism. The goal is to enhance understanding of the genetic causes and improve recruitment for future clinical trials. Participants with inherited eye diseases or their close relatives will provide saliva samples using mailed kits with instructions, and some may also provide blood samples collected locally or at the NIH. The study will gather detailed data including eye images, genetic test results, and health history, which will be stored in the eyeGENE data repository for use by researchers. This is an observational study without investigational treatments. During the study, participants will provide genetic samples and clinical data, which may include eye exam images and test results. Researchers will analyze the data to find links between genetic changes and eye disease features over the 30-year study period. Personal information like names and contact details will be kept confidential. This long-term study allows researchers to better understand rare eye diseases and support future research and clinical trials.

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 walk/run, 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.