PREDIGA 2: Spanish Acronym of "Educational and Diagnostic Project for Gaucher and ASMD"
- Conditions
- Gaucher DiseaseAcid SphingoMyelinase DeficiencyASMDSplenomegalyNiemann-Pick Diseases
- Registration Number
- NCT05641103
- Lead Sponsor
- Fundación Española de Hematología y Hemoterapía
- 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. It has been described that 0.3% of hospital admissions is for this reason.
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.
The objective of the present study is to increase the diagnostic sensitivity of these unknown splenomegalys, or unknown splenomegaly patients who remain in consultations, using the usual diagnostic clinical procedures of unknown splenomegaly and unknown splenectomy patients, where the investigators 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.
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- ACTIVE_NOT_RECRUITING
- Sex
- All
- Target Recruitment
- 122
- 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 splenomegaly or splenectomy without diagnosis but identified with ITP (Idiopathic Thrombocytopenic Purpura)
- Patient who gives his consent to participate in the study.
- 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
Study & Design
- Study Type
- OBSERVATIONAL
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method Prevalence of Gaucher disease (GD) and acid sphingomyelinase deficiency (ASMD) 36 months Determinate the prevalence of Gaucher disease (GD) and acid sphingomyelinase deficiency (ASMD)
- Secondary Outcome Measures
Name Time Method
Trial Locations
- Locations (14)
Hospital de Poniente
🇪🇸El Ejido, Almería, Spain
Hospital Universitario de Cabueñes
🇪🇸Gijón, Asturias, Spain
Hospital Universitario Central de Asturias - HUCA
🇪🇸Oviedo, Asturias, Spain
Complejo Hospitalario Universitario de Santiago - CHUS
🇪🇸Santiago De Compostela, La Coruña, Spain
Hospital Universitario de Galdácano
🇪🇸Galdácano, Vizcaya, Spain
Hospital General Universitario de Alicante
🇪🇸Alicante, Spain
Hospital Universitario de Badajoz
🇪🇸Badajoz, Spain
Hospital Vall d'Hebron
🇪🇸Barcelona, Spain
Hospital Universitario Juan Ramón Jiménez
🇪🇸Huelva, Spain
Complejo Hospitalario Universitario La Coruña - CHUAC
🇪🇸La Coruña, Spain
Hospital Universitario Lucus Augusti
🇪🇸Lugo, Spain
Hospital Universitario La Princesa
🇪🇸Madrid, Spain
CAU Salamanca
🇪🇸Salamanca, Spain
Hospital Universitario Joan XXIII
🇪🇸Tarragona, Spain