Actively Recruiting
GammaGA: Study of the Prevalence of Acid Sphingomyelinase Deficiency Disease (ASMD) and Gaucher Disease in Patients With Monoclonal Gammopathies and/or Multiple Myeloma
Led by Fundación Española de Hematología y Hemoterapía · Updated on 2026-02-11
210
Participants Needed
23
Research Sites
17 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
Researchers are studying patients with splenomegaly or those who have had a splenectomy without a known cause, focusing on the possible presence of Gaucher disease (GD) and Acid Sphingomyelinase Deficiency (ASMD). These conditions may be linked to monoclonal gammopathy of undetermined significance (MGUS) and multiple myeloma (MM), which have been found more frequently among Gaucher and ASMD patients. The study aims to improve diagnosis of unknown causes of splenomegaly and undiagnosed cases of MGUS or MM in these patients. The study involves using standard diagnostic procedures for unknown splenomegaly and splenectomy patients, including collecting blood samples for a dry drop test (DBS). This test measures enzymatic and genetic activity related to Gaucher disease and ASMD, alongside analysis of LisoGl1 and LisoSM biomarkers. No specific treatment or intervention is applied since this is an observational study. Participants will undergo clinical evaluations and blood sampling to help identify the prevalence of Gaucher disease and ASMD over a 36-month period. Researchers will track how many patients with unknown splenomegaly or MGUS/MM have these enzyme deficiencies. The study is observational, with no treatment assigned, and participants will be monitored during their routine medical consultations throughout the study duration.
CONDITIONS
Brief Title
GammaGA: Prevalence of Acid Sphingomyelinase Deficiency Disease (ASMD) and Gaucher Disease in Patients With Monoclonal Gammopathies and/or Multiple Myeloma
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Adult patients of both sexes
- Patients with splenomegaly (spleen palpable at 651cm from the costal margin) or splenectomy not related to any specific condition
- Patients with thrombocytopenia present before treatment for their underlying condition
- Patients who provide consent to participate in the study
You will not qualify if you...
- Splenomegaly due to portal hypertension caused by liver disease
- Hematologic malignancy confirmed by physical exam and laboratory tests
- Hemolytic anemia and/or thalassemia
- Patients unable to comply due to mental or cognitive impairments or educational limitations
- Patients who refuse to participate in the study
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Your Study Journey
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (in-person)
Duration - Up to 36 months
Participants who undergo routine care are observed to assess the prevalence of Gaucher disease and acid sphingomyelinase deficiency.
Visit schedule may vary based on routine healthcare appointments
Trial Site Locations
Total: 23 locations
1
Hospital Universitario de Álava
Vitoria-Gasteiz, Alava, Spain
Actively Recruiting
2
Hospital Universitario Torrecárdenas
Almería, Almería, Spain
Actively Recruiting
3
Hospital Son Espases
Palma de Mallorca, Balearic Islands, Spain
Actively Recruiting
4
Hospital Parc Taulí
Sabadell, Barcelona, Spain
Actively Recruiting
5
Hospital Universitario de Burgos
Burgos, Burgos, Spain
Actively Recruiting
6
Hospital de Valdepeñas
Valdepeñas, Ciudad Real, Spain, 28040
Actively Recruiting
7
Hospital Universitario Dr. Josep Trueta
Girona, Girona, Spain
Actively Recruiting
8
Hospital Universitario Virgen de las Nieves
Granada, Granada, Spain
Actively Recruiting
9
Hospital San Jorge
Huesca, Huesca, Spain
Actively Recruiting
10
Hospital de Jaén
Jaén, Jaén, Spain
Actively Recruiting
11
Hospital del Bierzo
Ponferrada, León, Spain
Actively Recruiting
12
Hospital Arnau de Vilanova
Lleida, Lleida, Spain
Actively Recruiting
13
Hospital Universitario La Paz
Madrid, Madrid, Spain, 28040
Actively Recruiting
14
Hospital Universitario Ramón y Cajal
Madrid, Madrid, Spain, 28040
Actively Recruiting
15
Hospital Fundación Jiménez Díaz
Madrid, Madrid, Spain
Actively Recruiting
16
Hospital Regional Universitario de Málaga
Málaga, Málaga, Spain
Actively Recruiting
17
Complejo Hospitalario Universitario de Orense
Ourense, Orense, Spain
Actively Recruiting
18
Hospital Alvaro Cunqueiro
Vigo, Pontevedra, Spain
Actively Recruiting
19
Hospital Alcañiz
Alcañiz, Teruel, Spain
Actively Recruiting
20
Hospital de Manises
Valencia, Valencia, Spain
Actively Recruiting
21
Hospital Universitario y Politécnico La Fe
Valencia, Valencia, Spain
Actively Recruiting
22
Hospital Clínico Universitario de Valladolid
Valladolid, Zaragoza, Spain
Actively Recruiting
23
Complejo Asistencial de Ávila
Ávila, Ávila, Spain
Actively Recruiting
Research Team
F
FEHH SEHH, MD
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
0
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