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

Recruiting now

Conditions studied: Gaucher Disease, Acid SphingoMyelinase Deficiency

In brief

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.

Key facts

Study ID

NCT05992532

Run by

Fundación Española de Hematología y Hemoterapía

People needed

210

Starts

2023-05-30

Expected to finish

2026-05-01

Last updated by the study team

2026-02-11

Who can join

Age: 18 and older, up to 99. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

• 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.

You may not qualify if…

• 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

Where it is running

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

Full record on ClinicalTrials.gov

Trial information comes from ClinicalTrials.gov and is refreshed daily. TrialsForMe does not provide medical care and does not run the studies it lists.