Ocular and Palpebral Manifestations of Mastocytosis (MOOMA)

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.

Study Overview

• Status: Completed
• Conditions: Mast Cell Activation Syndrome; Urticaria Pigmentosa; Mast Cell Activation Disease; Mast Cell Disease
• Intervention / Treatment: Other: Ophthalmological examination

Detailed Description

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.

• Study Type: Interventional
• Enrollment (Actual): 21
• Phase: Not Applicable

Contacts and Locations

Study Locations

• France
  • Nouvelle Aquitaine
    • Poitiers, Nouvelle Aquitaine, France, 86000
      • Masson Regnault

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 18 years and older (Adult, Older Adult)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

Description

Inclusion Criteria:

• Have a diagnosis of mastocytosis
• Male or female, 18 years of age and over
• Ability to understand and provide written informed consent.

Exclusion Criteria:

• Disorders that do not allow good visualization of the posterior pole (cataract, intravitreal hemorrhage)
• Patients with another ocular pathology that may bias the results (corneal dystrophy, dysthyroid orbitopathy, retinal pathologies)
• History of refractive surgery

Study Plan

How is the study designed?

Design Details

• Primary Purpose: Screening
• Allocation: N/A
• Interventional Model: Single Group Assignment
• Masking: None (Open Label)

Number of Arms

1

Arms and Interventions

Participant Group / Arm	Intervention / Treatment
Experimental: Participants affected by cutaneous and systemic mastocytosis; Participants affected by cutaneous and systemic mastocytosis with or without eye disabilities	Other: Ophthalmological examination; 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

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Proportion of Subjects with mastocytosis presenting eye abnormalities	Number of patients with functional complaints or abnormalities of the surface, orbit, anterior and posterior segment of the eyeball.	up to 2 hours

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Nature and Frequency of eye abnormalities	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	up to 2 hours
Risk factor of eye abnormalities	Significative association with a mastocytosis subtype or certain organ involvements or biological abnormalities	up to 2 hours

Collaborators and Investigators

• Sponsor: Poitiers University Hospital

Study record dates

Study Major Dates

• Study Start (Actual): July 30, 2021
• Primary Completion (Actual): September 3, 2021
• Study Completion (Actual): September 3, 2021

Study Registration Dates

• First Submitted: July 20, 2021
• First Submitted That Met QC Criteria: July 20, 2021
• First Posted (Actual): July 27, 2021

Study Record Updates

• Last Update Posted (Actual): December 1, 2022
• Last Update Submitted That Met QC Criteria: November 30, 2022
• Last Verified: November 1, 2022

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Skin Diseases; Immune System Diseases; Neoplasms, Connective and Soft Tissue; Neoplasms by Histologic Type; Neoplasms; Hypersensitivity, Immediate; Skin Diseases, Vascular; Hypersensitivity; Neoplasms, Connective Tissue; Pigmentation Disorders; Immune Complex Diseases; Mastocytosis, Cutaneous; Urticaria; Mastocytosis; Urticaria Pigmentosa
• Other Study ID Numbers: MOOMA

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No