8 Clinical Trials for Various Conditions
Xeroderma Pigmentosum (XP) is a rare skin condition that causes extreme sensitivity to the sun and an increased incidence of skin cancers. The purpose of this study is to find out more about XP patient experiences and their quality of life.
This study will determine if family members of patients with xeroderma pigmentosum (XP) have various abnormalities, including: skin abnormalities; nervous system abnormalities, such as hearing problems; skin, eye, or internal cancers, or other changes. XP is a rare inherited disease that involves an inability to repair damage to cell DNA (genetic material). It can affect several organ systems, including the skin, eye, nervous system, and bones. Patients have a more than thousand-fold increase in frequency in all major skin cancers. Parents of patients with XP are carriers of the abnormal XP gene. Other family members may also be carriers of the abnormal XP gene. Carriers do not develop the disease themselves; symptoms develop only in children who have inherited the faulty gene from both parents. This study will try to clarify the genetic basis for XP and to understand the increased frequency of cancer in the disease. XP patients who have been evaluated at the NIH Clinical Center and their relatives are eligible for this study. Newly diagnosed XP patients are also eligible. Spouses of relatives will also be included as control subjects. Patients and their family members will undergo some or all of the following procedures: * Parental permission to review the child s relevant medical records and pathology material from treatments or surgery for cancer or other related illnesses * Medical history and physical examination, with particular attention to the skin and possible eye, hearing or neurological examinations * Photographs to document skin and other physical findings * Nuclear medicine scans to evaluate the brain and nervous system * X-rays of the skull or other parts of the body * Nervous system testing with an electroencephalogram (EEG), electroretinogram (ERG), electromyogram (EMG) or nerve conduction velocity measurement * Collection of blood and skin samples for gene studies * Establishment of cell lines from collected blood or tissues to study DNA repair, skin cancer, cancers related to XP, immune defects, and related studies. * Biopsy (surgical removal of a small piece of tissue) of suspicious skin lesions for examination under a microscope * Collection of a cheek cell sample, obtained by twirling a soft brush against the inside of the cheek * Collection of a hair sample for microscopic examination and composition analysis * Surgery to treat skin cancers or other lesions
RATIONALE: Patients with xeroderma pigmentosum are more likely to develop skin lesions in sun-affected areas. These skin lesions, such as actinic keratoses, can develop into skin cancer. T4N5 liposome lotion may reduce actinic keratoses or other sun-induced skin damage in patients with xeroderma pigmentosum. PURPOSE: Randomized double-blinded phase III trial to compare treatment using T4N5 liposome lotion with treatment using placebo in reducing actinic keratoses and other sun-induced skin damage in patients with xeroderma pigmentosum.
Four rare genetic diseases, xeroderma pigmentosum (XP), Cockayne syndrome (CS), the XP/CS complex and trichothiodystrophy (TTD) have defective DNA excision repair although only XP has increased cancer susceptibility. We plan to perform careful clinical examination of selected patients with XP, XP/CS, CS, or TTD and follow their clinical course. We will obtain tissue (skin, blood, hair, buccal swabs) for laboratory examination of DNA repair and for genetic analysis. We hope to be able to correlate these laboratory abnormalities with the clinical features to better understand the mechanism of cancer prevention by DNA repair. Patients will be offered counseling and education for cancer control....
This is a phase IV, unblinded, open-label study assessing the impact on skin quality, hydration, and barrier of three (3) Hydrafacial treatments in healthy adults of Fitzpatrick Skin Types I \& II, III, IV, V \& VI, 30 to 55 years of age. Efficacy and subject satisfaction will be assessed, before and after three (3) HF treatments, in 6 patient cohorts, each cohort defined by FST I-VI.
This will be a single-center, single-arm, non-interventional natural history study to evaluate the longitudinal clinical course, functional outcome measures, and candidate biomarkers for individuals with DNA repair disorders, including Cockayne syndrome (CS), xeroderma pigmentosum (XP), and trichothiodystrophy (TTD).
This phase Ib trial investigates the side effects of the combination of nivolumab and ipilimumab, and to see how well they work in treating patients with cancers that have come back (relapsed) or does not respond to treatment (refractory) and have an increased number of genetic changes. Immunotherapy with monoclonal antibodies, such as nivolumab and ipilimumab, may help the body's immune system attack the cancer, and may interfere with the ability of tumor cells to grow and spread. Tumor mutational burden (TMB) is the total amount of genetic changes or "mutations" found in tumor cells. Some studies in adults with cancer have shown that patients with a higher TMB (an increased number of genetic changes) are more likely to respond to immunotherapy drugs. There is also evidence that nivolumab and ipilimumab can shrink or stabilize cancer in adult patients with cancer. This study is being done to help doctors learn if the combination of nivolumab and ipilimumab can help children, adolescents, and young adults patients live longer.
This is a 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 non-Gorlin HF-BCC (high-frequency basal cell carcinoma). Participants will be randomized (1:1) to receive either Patidegib Topical Gel, 2%, or Vehicle for 9 months. Randomization will be stratified by gender. The primary endpoint is the number of nSEB (surgically eligible basal cell carcinoma) that develop on the face over the 9 month period. The primary end point will be assessed by imaging and tracking of BCCs consistently throughout the study in order to identify nSEBs.