Study of Mast Cell Precursors
Condition: Mastocytosis; Healthy Volunteer
MeSH terms: Mastocytosis
Study type: Observational

Summary: 
      This study will investigate mast cell precursors that circulate in the blood. In a group of
      diseases collectively known as mastocytosis, mast cells accumulate in abnormal amounts in the
      skin, lymphoid tissues, bone marrow, liver and spleen. Some forms of mastocytosis have a
      generally good prognosis; for others, the prognosis is poorer. There is no known cure for any
      form of the disease. A better understanding of mast cells and how they respond to certain
      substances may provide insights that will lead to effective treatments for mastocytosis.

      Patients with systemic mastocytosis and normal healthy volunteers between the ages of 20 and
      60 may be eligible for this 8-day study. Participants will undergo the following procedures:

        -  Day 1 Medical history, physical examination, and blood tests to assess general health
           status

        -  Days 2 through 6 Daily injections under the skin of G-CSF a hormone that stimulates
           white blood cell production

        -  Day 7 Leukapheresis a procedure for collecting large numbers of white blood cells. In
           leukapheresis, blood is drawn through a needle placed in an arm and channeled into a
           cell separator machine. The white cells are collected and the rest of the blood is
           returned to the body through a needle in the other arm. The procedure takes up to 3
           hours.

        -  Days 7 and 8 Blood draw (about 1 teaspoon) to monitor white blood cell counts.
    

Detailed description: 
      The purpose of this protocol is to obtain large numbers of CD34+ cells from the peripheral
      blood of healthy volunteers and patients with systemic mastocytosis or other related
      allergic, hematological, and immunological conditions by leukapheresis for culture and
      characterization of mast cell progenitor cells and their response to various cytokines and
      anti-mitotic agents. Healthy volunteers and patients will be adults of both sexes from 18 to
      70 years of age. Granulocyte colony stimulating factor (G-CSF) will be administered to
      healthy volunteers at dose of 10 mcg/kg/day as a subcutaneous dose daily for 5 days not to
      exceed 960mcg. Patients will receive Plerixafor at a dose of 0.24 mg/kg as a single
      subcutaneous dose not to exceed 24mg the night before leukapheresis as a mobilizing agent for
      CD34+ cells. In identified patients where leukapheresis yield is considered adequate without
      stimulation by the principal investigator, leukapheresis may proceed without stimulation.
      Healthy volunteers will undergo a single leukapheresis at day 7, and patients will undergo a
      single leukapheresis at day 3 or 4. This is not a therapeutic protocol and does not involve
      reinfusion of any manipulated cells, viruses or DNA constructs back into human subjects.
    

Observational model: Case-Control
Time perspective: Prospective
Sampling method: Non-Probability Sample
Study population: 
        Primary Clinical
      
Biospecimen description: 
      Whole Blood, Serum, White Cells
    
Keywords: Leukapheresis; Mastocytosis; Mast Cells; Normal Volunteer; Natural History; Systemic Mastocytosis