Active clinical trials for "Mastocytosis, Cutaneous"

The purpose of this study is to determine the effectiveness and tolerability of a novel topical preparation for the treatment of cutaneous lesions of mastocytosis.

The treatment of systemic mastocytosis has two main axes: Control of mast cell activation symptoms and The control of proliferation (accumulation) of mast cells. There is no standard treatment and no treatment has a marketing authorization for the treatment of monoclonal indolent mastocytosis.

The current study will investigate the effects of TF002 on cutaneous mastocytosis or cutaneous involvement of systemic mastocytosis as compared to clobetasol proprionate (positive control) and a general skin care product without active ingredient targeting mastocytosis (negative control) based on clinical effects on Darier´s signs and the histological evaluation of mast cell numbers in skin bioptic material.

Cutaneous mastocytosis can be isolated or associated with systemic involvement. Urticaria pigmentosa affects around 80 to 85% of adult patients with cutaneous mastocytosis. It is also frequently present in patients with mastocytosis associated with systemic involvement (80% of patients in our experience). This skin damage is one of the causes of deterioration in quality of life in patients with mastocytosis, through the loss of self-esteem, due to the appearance of lesions. However there are not treatment for urticaria pigmentosa. Skin involvement in mastocytosis is linked to the accumulation of abnormal mast cells in the dermis. However, the mast cells are not pigmented and the brown-brown color characteristic of Urticaria pigmentosa is explained by melanin pigmentation of the epidermal basal layer.

Pediatric mastocytosis is an orphan disease, which encompasses several clinically distinct entities including solitary mastocytoma, urticaria pigmentosa, diffuse cutaneous mastocytosis and the newly recognized mast cell activation syndrome. The most common form of pediatric mastocytosis is cutaneous maculopapular mastocytosis (CMPM), also known as urticaria pigmentosa (UP). There are significant knowledge gaps regarding the genetic basis of pediatric mastocytosis and the functional activity of mast cells in this condition. The Pediatric Dermatology and Pediatric Oncology services at the University of Minnesota Masonic Children's Hospital are seeing significant growth in clinical volumes of pediatric mastocytosis, including rare, familial cases. The aims of this study are to prospectively explore germline risk for UP and to perform a mutational analysis to identify somatic mutations, beyond those currently identified, in pediatric patients with UP.

Mastocytosis is a heterogeneous rare disease. A 27-item questionnaire to assess the quality of life of patients with cutaneous/ indolent systemic mastocytosis was developed in the German language and validated in the English language in 2015. The team of the University Charité Berlin and the company Moxie - intellectual proprietor of the questionnaire - proposed the use of the recommendations of Baiardini et al. 2010, for linguistic adaptation of this questionnaire in other languages.