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

Gaucher Disease Clinical Trial

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

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT05992532
• Other study ID #: GammaGA
• Status: Recruiting
• Start date: May 30, 2023
• Est. completion date: March 2026

Study information

• Verified date: August 2023
• Source: Fundación Española de Hematología y Hemoterapía
• Contact: FEHH SEHH, MD
• Phone: 91 319 19 98
• Email: sehh[@]sehh.es
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 210
• Est. completion date: March 2026
• Est. primary completion date: June 2025
• Gender: All
• Age group: 18 Years to 99 Years

Eligibility

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

Related Conditions & MeSH terms

• Acid SphingoMyelinase Deficiency
• Deficiency Diseases
• Gaucher Disease
• Monoclonal Gammopathy of Undetermined Significance
• Multiple Myeloma
• Neoplasms, Plasma Cell
• Niemann-Pick Disease, Type C
• Niemann-Pick Diseases
• Paraproteinemias

Locations

Country	Name	City	State
Spain	Hospital Alcañiz	Alcañiz	Teruel
Spain	Hospital Universitario Torrecárdenas	Almería
Spain	Complejo Asistencial de Ávila	Ávila
Spain	Hospital Universitario de Burgos	Burgos
Spain	Hospital Universitario Virgen de las Nieves	Granada
Spain	Hospital Arnau de Vilanova	Lleida
Spain	Hospital Fundación Jiménez Díaz	Madrid
Spain	Hospital Regional Universitario de Málaga	Málaga
Spain	Complejo Hospitalario Universitario de Orense	Orense
Spain	Hospital del Bierzo	Ponferrada	León
Spain	Hospital Clínico Universitario de Valladolid	Valladolid	Zaragoza
Spain	Hospital Alvaro Cunqueiro	Vigo	Pontevedra

Sponsors (1)

Lead Sponsor	Collaborator
Fundación Española de Hematología y Hemoterapía

Country where clinical trial is conducted

Spain, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Prevalence of Gaucher disease (GD) and acid sphingomyelinase deficiency (ASMD)	Determinate the prevalence of Gaucher disease (GD) and acid sphingomyelinase deficiency (ASMD)	36 months