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

NCT05992532 · tracked via the Priya Life Science Spain tracker

Sponsor

Fundación Española de Hematología y Hemoterapía

Phase

Observational

Started

2023-05-30

Last updated

2026-02-11

Condition(s) studied

Gaucher DiseaseAcid SphingoMyelinase Deficiency

Study 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.

Eligibility

Sex

ALL

Min age

18 Years

Max age

99 Years

Healthy volunteers

Inclusion Criteria: * Adult patients of both sexes. * Patients with splenomegaly (spleen palpable at ≥ 1cm from the costal margin) or splenectomy not related to any specific condition, or patients with thrombocytopenia (with or without splenomegaly). In cases where the patient is undergoing treatment for their underlying condition, the thrombocytopenia must have been present prior to the start of the treatment. * Patient who gives their 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

Primary outcome measure(s)

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

Trial sites (23)

Facility	City	Region	Status
Hospital Universitario de Álava	Vitoria-Gasteiz	Alava	Recruiting
Hospital Universitario Torrecárdenas	Almería	Almería	Recruiting
Hospital Son Espases	Palma de Mallorca	Balearic Islands	Recruiting
Hospital Parc Taulí	Sabadell	Barcelona	Recruiting
Hospital Universitario de Burgos	Burgos	Burgos	Recruiting
Hospital de Valdepeñas	Valdepeñas	Ciudad Real	Recruiting
Hospital Universitario Dr. Josep Trueta	Girona	Girona	Recruiting
Hospital Universitario Virgen de las Nieves	Granada	Granada	Recruiting
Hospital San Jorge	Huesca	Huesca	Recruiting
Hospital de Jaén	Jaén	Jaén	Recruiting
Hospital del Bierzo	Ponferrada	León	Recruiting
Hospital Arnau de Vilanova	Lleida	Lleida	Recruiting
Hospital Universitario La Paz	Madrid	Madrid	Recruiting
Hospital Universitario Ramón y Cajal	Madrid	Madrid	Recruiting
Hospital Fundación Jiménez Díaz	Madrid	Madrid	Recruiting
Hospital Regional Universitario de Málaga	Málaga	Málaga	Recruiting
Complejo Hospitalario Universitario de Orense	Ourense	Orense	Recruiting
Hospital Alvaro Cunqueiro	Vigo	Pontevedra	Recruiting
Hospital Alcañiz	Alcañiz	Teruel	Recruiting
Hospital de Manises	Valencia	Valencia	Recruiting
Hospital Universitario y Politécnico La Fe	Valencia	Valencia	Recruiting
Hospital Clínico Universitario de Valladolid	Valladolid	Zaragoza	Recruiting
Complejo Asistencial de Ávila	Ávila	Ávila	Recruiting

More Fundación Española de Hematología y Hemoterapía trials in Spain

Improvement of Immunologic and Molecular Techniques for the Diagnosis and Follow-up of Patients With Thrombotic Thrombocytopenic Purpura Active, not recruiting

RESTI Registry: Spanish Registry of Primary Immune Thrombocytopenia and Other Immune Thrombocytopenia Recruiting

Spanish Registry of Patients With IgM Monoclonal Gammopathies Recruiting

Spanish-Portuguese Thrombotic Thrombocytopenic Purpura Registry Recruiting

Other trials for the same condition

International Collaborative Gaucher Group (ICGG) Gaucher Disease Registry & Pregnancy Sub-registry Recruiting

A Clinical Trial of PR001 (LY3884961) in Patients With Peripheral Manifestations of Gaucher Disease (PROCEED) Active, not recruiting

Official registry record

This page summarises publicly available registry data for informational purposes — not medical advice. Eligibility is determined by each study team; patients should discuss participation with their clinician.

View NCT05992532 on ClinicalTrials.gov ↗ ← All trials in Spain