Clinical Research Directory

Study of Factors Regulating Mast Cell Proliferation

This study will examine growth factors that promote and inhibit mast cell proliferation resulting in mastocytosis, a disease of excessive mast cells in the body. These cells can release chemicals that cause itching, blisters, flushing, bone pain and abdominal pain. Patients up to 80 years of age with mastocytosis may be eligible for this 1-day study. Participants will have one visit at NIH lasting up to 8 hours, during which they will undergo the following tests and procedures: * Medical history and physical examination. * Laboratory studies, if medically indicated. * Blood tests to identify genetic changes important in the growth, development, and functioning of mast cells. * Bone marrow aspiration and biopsy. For the bone marrow procedure, the skin over the hipbone and the outer surface of the bone itself are numbed with local anesthesia. Then, a special needle is inserted into the hipbone and about 1 tablespoon of bone marrow is drawn into a syringe. Another needle is inserted into the same area to collect a small piece of the bone marrow. Additional procedures may include allergen testing, urinalysis, and 24-hour urine collection. Participants will receive an evaluation of their mastocytosis.

(Summit) A Study to Evaluate the Efficacy and Safety of CGT9486 Versus Placebo in Patients With Indolent or Smoldering Systemic Mastocytosis

This is a multi-part, randomized, double-blind, placebo-controlled Phase 2 clinical study comparing the safety and efficacy of bezuclastinib (CGT9486) plus best supportive care (BSC) with placebo plus BSC in patients with nonadvanced systemic mastocytosis (NonAdvSM), including indolent systemic mastocytosis and smoldering systemic mastocytosis, whose symptoms are not adequately controlled by BSC. This study will be conducted in three parts. Patients in Parts 1a, 1b and 2 will receive bezuclastinib or placebo, and may roll over onto Part 3 to receive treatment with bezuclastinib. Additionally, a substudy of subjects will investigate the efficacy, safety, and tolerability of bezuclastinib in patients who are experiencing inadequate symptom control with avapritinib.

Institutional Registry of Rare Diseases

The goal of this observational study is to create a single macro registry system with data collection on common clinical features, grouping the different rare diseases (RD). Moreover, the specific goals are to generate an alert system for possible cases of RD with data from the electronic medical record, to describe the occurrence of RD in the evaluated population, to characterize the population, to describe patterns of diagnosis and treatment of RD present at the time, and to explore patient-reported outcomes.

Analysis of the Role of IgE Proteoforms in Health and Disease

The goal of this observational study is to evaluate the role of IgE proteoforms in healthy volunteers and in patients with type I allergy, patients with chronic spontaneous urticaria, patients with a recent history of anaphylaxis, patients with mastocytosis, patients with hereditary alpha tryptasemia, patients with X-linked agammaglobulinemia (XLA), and patients undergoing desensitization for venom or medication allergy.

Myeloproliferative Neoplasms (MPNs) Patient Registry

The mandate of this MPN registry is to collect clinical information, including molecular results, from consenting patients with a variety of MPNs at different time points during the course of their disease.

Mastocytosis Registry (of Zurich)

The study aims to summarize patients with mastocytosis and hypertryptasämia (without underlying mastocytosis or no bone marrow biopsy) in relation to demographic information, clinical progress and treatment courses. Biologic samples are collected from available routine diagnostics (serum, skin tissue, gut mucosa, bone marrow, and others) for further use in experimental research.

Relationship Between Circulating Sclerostin and Bone Lesions in Patients With Mastocytosis

Mastocytosis is very rare and highly heterogeneous group of disorders, characterized by the accumulation of clonal mast cells which can infiltrate several organs and tissues. Bones are the most frequent localization of systemic mastocytosis. The aim of our research was to explain the potential role of sclerostin in the pathogenesis of bone disease in mastocytosis.

Study of Cellular Heterogeneity in Patients With Mastocytosis

This study will aim to study the heterogeneity of skin-resident mast cells and of blood circulating hematopoietic progenitors in patients suffering from isolated Cutaneous Mastocytosis and from systemic Mastocytosis with skin lesions.