Clinical trial NCT05992532: GammaGA: Prevalence of Acid Sphingomyelinase Deficiency Disease (ASMD) and Gaucher Disease in Patients With Monoclonal Gammopathies and/or Multiple Myeloma
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
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Gaucher Disease
Acid SphingoMyelinase Deficiency
Keywords: Gaucher disease
Acid sphingomyelinase deficiency
GD
ASMD
DBS
Splenomegaly
monoclonal gammopathies
multiple myeloma
Lead sponsor: Fundación Española de Hematología y Hemoterapía
Sponsor class: OTHER
First posted: 2023-08-15
Enrollment: 210
Sex: ALL
Minimum age (years): 18
Maximum age (years): 99
Standard ages: ADULT
OLDER_ADULT
Observational model: COHORT
Time perspective: CROSS_SECTIONAL
Sampling method: NON_PROBABILITY_SAMPLE
Study population: * 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 thrombocytopenia. 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

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.


Eligibility criteria: 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 outcomes:
measure: Prevalence of Gaucher disease (GD) and acid sphingomyelinase deficiency (ASMD)
timeFrame: 36 months
Secondary outcomes:
Other outcomes:
Locations:
city: Vitoria
country: Spain
facility: Hospital Universitario de Álava
state: Alava
city: Sabadell
country: Spain
facility: Hospital Parc Taulí
state: Barcelona
city: Valencia
country: Spain
facility: Hospital de Manises
state: Comunidad Valenciana
city: Palma De Mallorca
country: Spain
facility: Hospital Son Espases
state: Islas Baleares
city: Ponferrada
country: Spain
facility: Hospital del Bierzo
state: León
city: Vigo
country: Spain
facility: Hospital Alvaro Cunqueiro
state: Pontevedra
city: Alcañiz
country: Spain
facility: Hospital Alcañiz
state: Teruel
city: Valladolid
country: Spain
facility: Hospital Clínico Universitario de Valladolid
state: Zaragoza
city: Almería
country: Spain
facility: Hospital Universitario Torrecárdenas
city: Burgos
country: Spain
facility: Hospital Universitario de Burgos
city: Girona
country: Spain
facility: Hospital Universitario Dr. Josep Trueta
city: Granada
country: Spain
facility: Hospital Universitario Virgen de las Nieves
city: Huesca
country: Spain
facility: Hospital San Jorge
city: Jaén
country: Spain
facility: Hospital de Jaén
city: Lleida
country: Spain
facility: Hospital Arnau de Vilanova
city: Madrid
country: Spain
facility: Hospital Universitario Ramón y Cajal
city: Madrid
country: Spain
facility: Hospital Fundación Jiménez Díaz
city: Málaga
country: Spain
facility: Hospital Regional Universitario de Málaga
city: Orense
country: Spain
facility: Complejo Hospitalario Universitario de Orense
city: Valencia
country: Spain
facility: Hospital Universitario y Politécnico La Fe
city: Ávila
country: Spain
facility: Complejo Asistencial de Ávila
Study officials:
References: