Active clinical trials for "Xeroderma Pigmentosum"

The CUV152 study will evaluate the safety of afamelanotide in XP-C and XP-V patients, as well as the drug's ability to assist reparative processes following ultraviolet (UV) provoked DNA damage of the skin. It will assess whether SCENESSE® increases the amount of UV light needed to cause DNA damage of skin cells, as well as the extent of skin repair before and after treatment.

The CUV156 study will evaluate the safety of afamelanotide in XP-C patients, as well as the drug's ability to assist reparative processes following ultraviolet (UV) provoked DNA damage of the skin. It will assess whether SCENESSE® increases the amount of UV light needed to cause DNA damage of skin cells, as well as the extent of skin repair before and after treatment.

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 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).

Lenakap : This multicenter, non randomized (single arm), open, phase II study aims to evaluated the efficacy of Lenalidomide in HIV-associated kaposi disease. Patients will be followed for 48 weeks. Measurement of primary endpoint will be at 24 weeks.

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

People with Xeroderma Pigmentosum (XP) have a genetic condition which stops their skin repairing damage from Ultraviolet Radiation (UVR). This means they are much more likely to develop potentially fatal skin cancers. The only way to reduce this damage is to rigorously protect the skin, by limiting UVR exposure. This done in a number of ways including: staying indoors; wearing protective clothing, sunscreen and glasses. People with XP can find it difficult to maintain this level of protection, putting themselves at risk. This research will test whether an intervention designed to enhance photoprotection activities is successful. It will use a randomised controlled trial design to compare the amount of UVR reaching the face, between participants receiving the intervention and those receiving standard clinical care. The amount of UVR reaching the face is important, as this is where people with XP develop most cancers. It is dependent on the overall level of exposure to UVR in the environment, and photoprotection used. The intervention involves a tailored conversation with the participant about their photoprotection practices. It will target both the overall exposure to UVR and the photoprotection used when outdoors, and will be conducted in 7 sessions with an intervention facilitator. The content will be dependent on the specific photoprotection behaviour being targeted (e.g., poor sunscreen application) and the reasons for poor photoprotection for each person. This could be low motivation related to doubts about the need to protect and concerns about protecting. Other barriers to protection might be lack of routines. The facilitator will provide information tailored to these beliefs and use other standard behaviour change techniques to encourage the development of "better" photoprotection habits. The investigators predict that the intervention group will have a lower mean daily dose of UVR to the face compared to the control group in two time periods in the summer months.

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.

Study aim: To determine the effect of an intensified daily photoprotection over 24 months with an SPF30 sunscreen and an after sun-lotion both containing liposomal DNA repair enzymes in a population of patients at high-risk for skin cancer, including xeroderma pigmentosum (XP) and basal cell nevus syndrome.

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.