Study of Burosumab (KRN23) in Adults With Tumor-Induced Osteomalacia (TIO) or Epidermal Nevus Syndrome...
Tumor Induced Osteomalacia (TIO)Epidermal Nevus Syndrome (ENS)The primary objectives of this study are to evaluate the effect of burosumab treatment on: Increasing serum phosphorus levels in adults with TIO or ENS-associated osteomalacia Improvement in TIO/ENS-associated osteomalacia as determined by osteoid thickness (O.Th), osteoid surface/bone surface (OS/BS), osteoid volume/bone volume (OV/BV) and mineralization lag time (MLt).
Study of Patidegib Topical Gel, 2%, for the Reduction of Disease Burden of Persistently Developing...
Basal Cell Nevus SyndromeThis is a global, multicenter, randomized, double-blind, stratified, vehicle-controlled study of the efficacy and safety of Patidegib Topical Gel, 2%, applied topically twice daily to the face of adult participants with Gorlin syndrome. Participants will be required to apply the investigational product for 12 months. The primary endpoint is a comparison between the two treatment arms of the number of new BCCs that develop over the 12 month period.
A Trial to Assess the Safety and Efficacy of KRN23 in Epidermal Nevus Syndrome (ENS)
Epidermal Nevus SyndromeKRN23 is a fully human immunoglobulin monoclonal antibody (mAb) that binds to and inhibits the activity of fibroblast growth factor 23 (FGF23), leading to an increase in serum phosphorus levels. There are multiple disorders that result in unusually high circulating levels of FGF23, which in turn result in renal phosphate wasting and reduced levels of 1,25-dihydroxy vitamin D (1,25[OH]2D). Across these disorders the clinical symptoms are similar and often include osteomalacia (and, in children, rickets), muscle weakness, fatigue, bone pain, and fractures. KRN23 has been studied in one of these disorders, X-linked hypophosphatemia (XLH). In single- and repeat-dose clinical studies in subjects with XLH, subcutaneous (SC) administration of KRN23 consistently increased and sustained serum phosphorus levels and tubular reabsorption of phosphate (TRP) without a major impact on urine calcium levels or vitamin D metabolism. Positive results were also observed in a nonclinical pharmacology model of XLH. It is hypothesized that KRN23 may provide clinical benefit in this patient due to the common underlying feature in this patient and in patients with XLH - abnormally elevated FGF23 in the context of low age -adjusted serum phosphorous levels. The primary objective is to study the effect of KRN23 treatment on normalizing age-adjusted fasting serum phosphorous levels in a single pediatric patient with Epidermal Nevus Syndrome associated hypophosphatemic rickets.
Treatment of Nevus Flammeus With Alexandrite Laser
Nevus FlammeusNevus flammeus is a congenital vascular malformation. Nevus flammeus is traditionally treated with pulsed dye lasers (PDL); however, around 20 percent of patients are poor responders and do not get satisfactory results from pulsed dye laser treatments. Small studies with alexandrite lasers indicate that this may be an alternative treatment for individuals with nevus flammeus. This study assesses the clinical effect and side effects of alexandrite laser treatment for nevus flammeus using different treatment settings.
Blue vs Red Light During Levulan Based Photodynamic Therapy in Patients With Basal Cell Nevus Syndrome...
Basal Cell Nevus SyndromeThe investigators will be testing whether aminolevulinate-based (Levulan™) Photodynamic Therapy (PDT) shows effectiveness in the treatment and prevention of cutaneous basal cell carcinoma (BCC) in Basal Cell Nevus Syndrome (BCNS) patients. Levulan™ PDT is an FDA-approved method widely used currently for squamous precancers of the skin. The investigators hypothesize that PDT will provide exceptional benefit in the BCNS population because PDT is nonmutagenic, nonscarring, and can be safely repeated many times. Additionally, the study will investigate whether there are any differences in tumor clearance between the Blu-U® (blue lamp) and Aktilite™(red lamp) therapies.
Study of BMS-833923 in Two Specific Patients With Basal Cell Nevus Syndrome
Basal Cell Nevus SyndromeThis is an extension study of Protocol CA194002 to allow 2 specific participants with basal cell nevus syndrome in the CA194002 study at Princess Margaret Cancer Centre who are still benefitting from the study drug BMS-833923 to continue receiving the study drug. This study will continue to evaluate the safety and tolerability of BMS-833923 in these participants.
A Study of KRN23 in Subjects With Tumor-Induced Osteomalacia or Epidermal Nevus Syndrome
Tumor-Induced Osteomalacia or Epidermal Nevus SyndromeBefore switching to the post-marketing study: To evaluate the efficacy and safety of KRN23 after its 144-week once every 4 weeks (Q4W) repeated SC administration to Japanese and Korean patients with TIO or ENS by a multicenter, open-label, intraindividual dose adjustment study. After switching to the post-marketing study: To evaluate the safety and efficacy of KRN23, which is switched from the investigational product to the post-marketing investigational product, at the approved dose and dosing regimen in subjects who continue treatment after the marketing approval of KRN23 in Japan.
To Determine The Efficacy and Safety of GDC-0449 in Patients With Basal Cell Nevus Syndrome (BCNS)...
Basal Cell Nevus SyndromeGorlin SyndromeThe purpose of this study is to reduce the number of new surgically eligible BCCs by 50% appearing during month 3-18 of medication ingestion.
Open-label Trial of SUBA™-Itraconazole (SUBA-Cap) in Subjects With Basal Cell Carcinoma Nevus Syndrome...
Basal Cell Carcinoma in Basal Cell Nevus SyndromeThe study will assess the safety and efficacy of SUBA-Cap in subjects with Basal Cell Carcinoma Nevus Syndrome.
Risk Stratification Among Individuals Who Have Many Moles on Their Skin
High-Risk Nevus PhenotypeThe investigators are doing this study to improve our ability to identify which people with many moles on their skin are most likely to develop skin melanoma. The investigators hope to identify features of moles that are associated with melanoma risk. The investigators hope to use this information to customize and tailor melanoma screening to the individual patient based on a better estimate of their individual risk.