Clinical Trials Logo

Clinical Trial Summary

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.


Clinical Trial Description

This protocol is designed to examine those growth potentiating and inhibiting factors which regulate mast cell number and survival in patients with mastocytosis, and to explore the molecular basis of the disease process in hopes of improving therapy. Patients will carry the diagnosis of mastocytosis based on abnormal bone marrow biopsy and aspirate, abnormal skin biopsy, presence of urticaria pigmentosa, and if available, elevated serum tryptase level > 20 ng/ml and the presence of aberrant mast cell morphology and surface markers of CD2 and CD25. Mastocytosis patients will include children and adults from zero years to 80 years of age. Unaffected relatives (age 2 to 80 years) may also be enrolled. The protocol is designated for up to a 1-year enrollment period; with only a small number of enrolled patients that will stay on study for more than one visit, based on investigator assessment of contribution to study objectives. Participants will undergo standard physical exam, medical history review, and blood collection for clinical and research laboratory evaluations. We will collect clinical data and biological specimens for research evaluation from individuals undergoing clinically indicated diagnostic procedures. Some patients may participate in research evaluations including buccal swab collection, dietary intake assessment, stool collection, exercise challenge, microbiome studies, and activity tracking. These studies are optional. Patients may be asked to re-enter this protocol at a later time for further follow-up. ;


Study Design


Related Conditions & MeSH terms


NCT number NCT00044122
Study type Observational
Source National Institutes of Health Clinical Center (CC)
Contact Robin R. Eisch, R.N.
Phone (301) 443-1720
Email eischar@mail.nih.gov
Status Recruiting
Phase
Start date September 18, 2002

See also
  Status Clinical Trial Phase
Completed NCT01333293 - The Effect of Xolair ® (Omalizumab) in Mastocytosis Patients Phase 2/Phase 3
Completed NCT01481909 - Study on Mastocytosis for Rupatadine Treatment Phase 2/Phase 3
Recruiting NCT03340155 - Mechanisms of Action of Photo(Chemo)Therapy in Skin Diseases N/A
Not yet recruiting NCT05084872 - Hydroxychloroquine in Isolated Cutaneous Mastocytosis Patients or Indolent Systemic Mastocytosis With Associated Skin Involvement Patients Phase 2/Phase 3
Terminated NCT01701843 - Cromoglicate in Mastocytosis Phase 2
Completed NCT00831974 - Efficacy of AB1010 in Patients With Systemic Indolent Mastocytosis Phase 2
Completed NCT00047918 - Blood Factors in Mastocytosis and Unexplained Anaphylaxis and Flushing N/A
Completed NCT00006413 - Stem Cell Transplantation to Treat Systemic Mastocytosis Phase 2
Completed NCT00050193 - Cause and Natural Course of Pediatric-Onset Mastocytosis
Completed NCT02620254 - Mast Cell Connect: A Registry for Patients With Mastocytosis
Completed NCT00255346 - Dasatinib as Therapy for Myeloproliferative Disorders (MPDs) Phase 2
Completed NCT00001356 - Characteristics of Mast Cells in Mastocytosis N/A
Recruiting NCT05186753 - (Summit) A Study to Evaluate the Efficacy and Safety of CGT9486 Versus Placebo in Patients With Indolent or Smoldering Systemic Mastocytosis Phase 2
Completed NCT02478957 - Treatment of Indolent Systemic Mastocytosis With PA101 Phase 2
Recruiting NCT02450396 - Pregnancy and Medically Assisted Conception in Rare Diseases
Completed NCT00038675 - Therapy of HES, PV, Atypical Chronic Myelocytic Leukemia (CML) or Chronic Myelomonocytic Leukemia (CMML), and Mastocytosis With Imatinib Mesylate N/A
Completed NCT00336076 - Molecular Mechanisms and Diagnosis of Mastocytosis N/A
Recruiting NCT04615663 - Assessment of Burden Disease in Patients With Mast Cell Disorders
Completed NCT00001760 - Cytokine Production Patterns in Patients With Systemic Mastocytosis Compared With Atopic Dermatitis and Healthy Individuals N/A
Not yet recruiting NCT06210698 - Angioedema Biomarker Research Study