GammaGA: Prevalence of Acid Sphingomyelinase Deficiency Disease (ASMD) and Gaucher Disease in Patients With Monoclonal Gammopathies and/or Multiple Myeloma

Sponsor

Fundación Española de Hematología y Hemoterapía (Other)

Overall Status

Recruiting

CT.gov ID

NCT05992532

Collaborator

(none)

210

Enrollment

Locations

33.1

Anticipated Duration (Months)

17.5

Patients Per Site

0.5

Patients Per Site Per Month

Study Details

Study Description

Brief Summary

The study of splenomegaly, and the follow-up of splenectomized patients, is one of the causes of referral of these patients to pediatric gastroenterology and oncohematology clinics, and adult internal medicine and hematology. The study and management of splenomegaly is well described among the different medical specialties to which these patients arrive. After the application of the different algorithms and the different studies that are carried out, these splenomegaly are identified as being of hepatic, infectious, inflammatory, congestive, hematological origin and primary causes. Despite these studies of splenomegaly, approximately 10-15% of these patients still remain undiagnosed.

Several studies have suggested that there is an increased frequency of MGUS (monoclonal gammopathy of undetermined significance) and/or multiple myeloma (MM) among Gaucher patients. Regarding ASMD (Acid Sphingomyelinase Deficiency), few studies have been published but it seems the 21% of patient with ASMD has MGUS and 15% ASMD patients have MGUS. Moreover, patients with MGUS and Gaucher disease (GD) are at increased risk of developing MM.

The objective of the present study is to increase the diagnostic sensitivity of these unknown splenomegalys, or unknown splenomegaly patients with MGUS or multiple myeoloma who remain in consultations, using the usual diagnostic clinical procedures of unknown splenomegaly and unknown splenectomy patients, where we include the extraction of a blood sample for dry drop test (DBS), where the determination of the enzymatic/genetic activity will be carried out for Gaucher disease (GD) and acid sphingomyelinase deficiency (ASMD) , analysis of LisoGl1 and LisoSM.

Condition or Disease	Intervention/Treatment	Phase
Gaucher Disease Acid SphingoMyelinase Deficiency

Study Design

Study Type:

Observational

Anticipated Enrollment :

210 participants

Observational Model:

Cohort

Time Perspective:

Cross-Sectional

Official Title:

GammaGA: Study of the Prevalence of Acid Sphingomyelinase Deficiency Disease (ASMD) and Gaucher Disease in Patients With Monoclonal Gammopathies and/or Multiple Myeloma

Actual Study Start Date :

May 30, 2023

Anticipated Primary Completion Date :

Jun 1, 2025

Anticipated Study Completion Date :

Mar 1, 2026

Outcome Measures

Primary Outcome Measures

Prevalence of Gaucher disease (GD) and acid sphingomyelinase deficiency (ASMD) [36 months]
Determinate the prevalence of Gaucher disease (GD) and acid sphingomyelinase deficiency (ASMD)

Eligibility Criteria

Criteria

Ages Eligible for Study:

18 Years to 99 Years

Sexes Eligible for Study:

All

Inclusion Criteria:

Adult patients of both sexes.
Patients who present signs, assessed instrumentally or with laboratory tests, of unknown splenomegaly, defined as a palpable spleen ≥ 1cm from the costal margin or diagnosed by ultrasound, magnetic resonance imaging (MRI) or computed tomography (CT) of the spleen.
Splenectomy patient with no diagnosis of the origin of the splenomegaly of unknown origin.
Patients with splenomegaly or splenectomy without diagnosis but identified with ITP (Idiopathic Thrombocytopenic Purpura)
Patient who gives his consent to participate in the study.

Exclusion Criteria:

Splenomegaly due to portal hypertension (documented by abdominal ultrasound or other instrumental test) due to liver disease
Hematologic malignancy [documented by positive physical exam + blood smear or fine needle aspiration (FNA) or bone marrow biopsy]
Hemolytic anemia and/or thalassemia
Patients who cannot meet the requirements of the protocol due to mental and/or cognitive alterations, uncooperative patients, educational limitations and understanding of written language
Refusal of the patient to participate in the study

Contacts and Locations

Locations

	Site	City	State	Country
1	Hospital del Bierzo	Ponferrada	León	Spain
2	Hospital Alvaro Cunqueiro	Vigo	Pontevedra	Spain
3	Hospital Alcañiz	Alcañiz	Teruel	Spain
4	Hospital Clínico Universitario de Valladolid	Valladolid	Zaragoza	Spain
5	Hospital Universitario Torrecárdenas	Almería		Spain
6	Hospital Universitario de Burgos	Burgos		Spain
7	Hospital Universitario Virgen de las Nieves	Granada		Spain
8	Hospital Arnau de Vilanova	Lleida		Spain
9	Hospital Fundación Jiménez Díaz	Madrid		Spain
10	Hospital Regional Universitario de Málaga	Málaga		Spain
11	Complejo Hospitalario Universitario de Orense	Orense		Spain
12	Complejo Asistencial de Ávila	Ávila		Spain