GammaGA: Prevalence of Acid Sphingomyelinase Deficiency Disease (ASMD) and Gaucher Disease in Patients With Monoclonal Gammopathies and/or Multiple Myeloma
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- This is an observational study: the protocol does not assign a study treatment.
- Who it may be relevant to
- Registry conditions: Gaucher Disease, Acid SphingoMyelinase Deficiency. Basic parameters: 18 years — 99 years · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- Spain
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
Unsure about the terms? Read our patient guide →
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
Overview
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.
Primary outcome measures
- Prevalence of Gaucher disease (GD) and acid sphingomyelinase deficiency (ASMD) [Time frame: 36 months]
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
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: No
Study design
- Observational model
- Cohort
Study locations
Spain · 23 centers
- Hospital Universitario de Álava — Vitoria-Gasteiz
- Hospital Universitario Torrecárdenas — Almería
- Hospital Son Espases — Palma de Mallorca
- Hospital Parc Taulí — Sabadell
- Hospital Universitario de Burgos — Burgos
- Hospital de Valdepeñas — Valdepeñas
- Hospital Universitario Dr. Josep Trueta — Girona
- Hospital Universitario Virgen de las Nieves — Granada
- … and 15 more centers
Identifiers
NCT: NCT05992532 · GammaGA