Symptoms and General Pathology

All Conditions

Neoplasms

Immune System Diseases

Skin and Connective Tissue Diseases

Rare Diseases

Syndrome

Mastocytosis

Urticaria

Mast Cell Activation Syndrome

Mast Cell Activation Disorders

Urticaria Pigmentosa

Skin Diseases

Skin Diseases, Vascular

Hypersensitivity

Hypersensitivity, Immediate

Neoplasms, Connective Tissue

Neoplasms, Connective and Soft Tissue

Neoplasms by Histologic Type

Mastocytosis, Cutaneous

Skin Neoplasms

Pigmentation Disorders

Participants affected by cutaneous and systemic mastocytosis with or without eye disabilities

Eye examination :

Ocular tonometry to determine intraocular pressure Refraction assessment Retina examination Slit lamp examination Visual acuity Schirmer's test Corneal topography Funduscopic examination Optical coherence tomography

Ophthalmological examination

Mastocytosis is a rare condition characterized by an accumulation of mast cell cells in one or more organs such as the liver, bone marrow, spleen and intestines. Its prevalence in the general population is 1 in 10,000.

This pathology is due to the proliferation of a mast cell clone and the excessive release of inflammatory mediators which lead to abnormal tissue infiltration.

To date, there are only a few cases reporting ocular and orbital manifestations of mastocytosis.

Our prospective, interventional and single-center study consist in describing the ocular functional manifestations and ocular surface abnormalities of patients with systemic and cutaneous mastocytosis.

Patient with systemic or cutaneous mastocytosis will be included in the study. Data about organ involvement of mastocytosis will be collected. Participants will be screened with a medical and eye disease history. They will also have an eye exam.

Participants will provide a tears sample.

Ocular and Palpebral Manifestations of Mastocytosis (MOOMA)

Number of patients with functional complaints or abnormalities of the surface, orbit, anterior and posterior segment of the eyeball.

Details of functional complaints, abnormalities of various specialized examinations such as ocular tonometry to determine intraocular pressure, Refraction assessment, Retina examination, Slit lamp examination, Visual acuity, Schirmer's test, Corneal topography, Funduscopic examination, Optical coherence tomography

Significative association with a mastocytosis subtype or certain organ involvements or biological abnormalities

Poitiers University Hospital

Respiratory Tract (Lung and Bronchial) Diseases

Eczema

Asthma

Anaphylaxis

Food Hypersensitivity

Chronic Urticaria

Chronic Disease

Disease Attributes

Chronic Graft Versus Host Disease

Tak H Lee

Activation of mast cells in the immune system is known to cause allergic reactions sometimes with severe systemic symptoms. The investigators have recently developed a blood-based mast cell activation diagnostic test in which levels of functional activation in-vitro in primary cultured mast cells generated from the peripheral blood of single individuals can be assessed. It is the hypothesis that the test can be used to predict the potential state of in-vivo mast cell activation in any individual based on the functional activation profiles exhibited by their cultured mast cells. The investigators now wish to translate their in-vitro findings in a pilot study to disease groups where mast cell activation is expected to be high. These include highly allergic individuals; those with chronic idiopathic urticaria; those with mastocytosis; and those with the mast cell activation syndrome. Furthermore, they will use the functional genomics approach to identify gene expression biomarkers that are correlated with such diseases. The results will be compared with data that have been collected from a cohort of healthy control blood donors.

The objective of this study is to assess whether patients with severe allergic diseases exhibit high levels of mast cell activation as determined by the mast cell activation diagnostic test the investigators have developed. They anticipate that patients with history of severe allergic reactions will show up as high responders in the blood-based mast cell activation diagnostic test. Moreover, using microarray analysis as the approach for gene expression studies, they anticipate further that genomics biomarkers that are correlated with the high functional activation of the in-vitro mast cells derived from these patients can be readily identified.

About 100 ml of peripheral venous blood from individual patients will be drawn into heparinized syringes and collected in a blood-collecting bag/tube containing silica. The bag/tube will be promptly processed for the generation of primary human mast cell cultures using the protocol that has previously been developed \[Inflammation Research 66: 25 (2017). After culturing for 9 weeks, the resulting human mast cells will be analyzed for both their functional activity in terms of histamine release in response to the activation of high-affinity Immunoglobulin E (IgE) receptors in these cells and their gene expression profiles using microarray analysis. The in-vitro functional and genomics data will be correlated with specific diagnoses and measurements of blood prostaglandin D2 (PGD2), PGD2 metabolites, tryptase and histamine levels in blood. For mediator assays, plasma from each subject will be collected after the cluster of differentiation 34 positive (CD34+) isolation step and the samples will be aliquoted and frozen at -80 degrees centigrade for subsequent analysis.

Mast Cell Activation Test in Allergic Disease

Assessment of Mast Cell Activation Diagnostic Test in Patients With Allergic Disease

Mast Cell Activation Test results of high/low level of house dust mite sensitivity by using normal donor cultured mast cells for validation.

Patient's serum was incubated with mast cells derived from normal donors for detection of mast cell activation as evidenced by histamine release.

percentage of total histamine release by normal average responder mast cells that had been activated with patient's serum

percentage of total histamine release by patient's mast cells that had been activated with anti-IgE

Percentage of total histamine release when patient's mast cells were activated with patient's own serum and Der p2. Each patient's results are reported individually.

Cell yield of patient's mast cell culture after 9 weeks in culture as an index of cell growth and differentiation.

Chinese University of Hong Kong

Stanford University

Hong Kong Sanatorium & Hospital

Director Allergy Centre

Mast cell activation test employing normal donor cultured mast cells and allergic patient serum samples

Validation Group

Male patient, Total IgE: 28918KU/L; Der p2IgE: 64.4KU/L; clinical diagnosis: Eczema

SH#1

Male patient, Total IgE: 22311KU/L; Der p2IgE: 91.24KU/L; clinical diagnosis: Eczema

SH#2

Female patient, Total IgE: 5333KU/L; Der p2IgE: \>100KU/L; clinical diagnosis: Eczema

SH#3

Male patient, Total IgE: 4070KU/L; Der p2IgE: \>100KU/L; clinical diagnosis: Eczema, Urticaria

SH#4

Male patient, Total IgE: 379KU/L; Der p2IgE: 0.15KU/L; clinical diagnosis: Exercise-induced anaphylaxis

SH#5

Female patient, Total IgE: 13KU/L; Der p2IgE: \<0.1KU/L; clinical diagnosis: Mast cell activation syndrome

SH#6

Male patient, Total IgE: 67KU/L; Der p2IgE: None KU/L; clinical diagnosis: Urticaria

SH#7

Total

Age, Categorical

Sex: Female, Male

Race (NIH/OMB)

Hong Kong

Region of Enrollment

Clinical diagnosis of participants before Mast cell activation test

Clinical diagnosis

During recruitment period, no participants with asthma, food allergy, mastocytosis were recruited.

Prof. Tak Hong Lee

High level of house dust mite sensitivity

Low level of house dust mite sensitivity

Mast cells were cultured from blood of normal donors to validate the (Mast Cell Activation) MAT assay. The serum samples were obtained from allergic patients with sensitivities to Der p2 and used for passive sensitization of normal donor mast cells followed by their activation by Der p2 allergen. Data were collected only from the validation group.

Mast Cell Activation Test Results for Validation Group

Male patient, Total IgE: 28918 KU/L; Der p2 IgE: 64.4 KU/L; clinical diagnosis: Eczema

Male patient, Total IgE: 22311 KU/L; Der p2 IgE: 91.24 KU/L; clinical diagnosis: Eczema

Female patient, Total IgE: 5333 KU/L; Der p2 IgE: \>100 KU/L; clinical diagnosis: Eczema

Male patient, Total IgE: 4070 KU/L; Der p2 IgE: \>100 KU/L; clinical diagnosis: Eczema, Urticaria

Male patient, Total IgE: 379 KU/L; Der p2 IgE: 0.15 KU/L; clinical diagnosis: Exercise-induced anaphylaxis

Female patient, Total IgE: 13 KU/L; Der p2 IgE: \<0.1 KU/L; clinical diagnosis: Mast cell activation syndrome

Male patient, Total IgE: 67 KU/L; Der p2 IgE: None KiloUnits (KU)/L; clinical diagnosis: Urticaria

Serum samples were obtained from 19 patients in total, of whom 12 were in the validation group. The other 7 patients were studied more extensively in the trial and their data is reported individually in this section and thereafter.

Evaluation of Patient's Serum for Autoreactivity on Normal Average Responder Mast Cell Activation

Mast cells derived from the validation group is reported as a group (mean +/-SD). The other 7 allergic patients were analysed and reported individually as explained earlier.

Percentage Histamine Release by Normal Average Responder Mast Cells + Patient's Serum to Assess Autoreactivity

Mast cells derived from 7 allergic patients were analysed and reported individually. Patients in the validation group were not measured for this outcome and their samples were only used to validate the assay.

Study title	NCT ID	Conditions	Interventions	Eligibility	Organization
Ocular and Palpebral Manifestations of Mastocytosis (MOOMA)	NCT04978740	Mast Cell Activ... Mast Cell Activ... Mast Cell Disea... Urticaria Pigme...	Ophthalmologica...	18 Years -	Poitiers University Hospital
Mast Cell Activation Test in Allergic Disease	NCT03406325	Asthma Mastocytosis Mast Cell Activ... Food Allergy Chronic Idiopat... Anaphylaxis Eczema		18 Years -	Hong Kong Sanatorium & Hospital
Ocular and Palpebral Manifestations of Mastocytosis (MOOMA)	NCT04978740	Mast Cell Activ... Mast Cell Activ... Mast Cell Disea... Urticaria Pigme...	Ophthalmologica...	18 Years -	Poitiers University Hospital
Mast Cell Activation Test in Allergic Disease	NCT03406325	Asthma Mastocytosis Mast Cell Activ... Food Allergy Chronic Idiopat... Anaphylaxis Eczema		18 Years -	Hong Kong Sanatorium & Hospital

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