PREDIGA 2: Spanish Acronym of "Educational and Diagnostic Project for Gaucher and ASMD" (PREDIGA-2)

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.

Study Overview

• Status: Completed
• Conditions: Niemann-Pick Diseases; Gaucher Disease; Splenomegaly; Acid SphingoMyelinase Deficiency; ASMD
• Intervention / Treatment: Other: Patient with splenomegaly or splenectomy

• Study Type: Observational
• Enrollment (Actual): 122

Contacts and Locations

Study Locations

• Spain
  • Alicante
    • Alicante, Alicante, Spain
      • Hospital General Universitario de Alicante
  • Almería
    • El Ejido, Almería, Spain
      • Hospital de Poniente
  • Badajoz
    • Badajoz, Badajoz, Spain
      • Hospital Universitario de Badajoz
  • Barcelona
    • Barcelona, Barcelona, Spain
      • Hospital Vall d'Hebron
  • Huelva
    • Huelva, Huelva, Spain
      • Hospital Universitario Juan Ramon Jimenez
  • La Coruña
    • A Coruña, La Coruña, Spain
      • Complejo Hospitalario Universitario La Coruña - CHUAC
    • Santiago de Compostela, La Coruña, Spain
      • Complejo Hospitalario Universitario de Santiago - CHUS
  • Lugo
    • Lugo, Lugo, Spain
      • Hospital Universitario Lucus Augusti
  • Madrid
    • Madrid, Madrid, Spain
      • Hospital Universitario La Princesa
  • Principality of Asturias
    • Gijón, Principality of Asturias, Spain
      • Hospital Universitario de Cabuenes
    • Oviedo, Principality of Asturias, Spain
      • Hospital Universitario Central de Asturias - HUCA
  • Salamanca
    • Salamanca, Salamanca, Spain
      • CAU Salamanca
  • Tarragona
    • Tarragona, Tarragona, Spain
      • Hospital Universitario Joan XXIII
  • Vizcaya
    • Galdakao, Vizcaya, Spain
      • Hospital Universitario de Galdácano

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 18 years and older (Adult, Older Adult)
• Accepts Healthy Volunteers: No

• Sampling Method: Probability Sample

Study Population

Study of unexplained splenomegaly and splenectomized patients in the adult population

Description

INCLUSION CRITERIA:

• Adult patients (over 18 years old) of both sexes.

• Patients presenting signs, assessed instrumentally or via laboratory tests, of:

  • Unexplained splenomegaly, defined as a palpable spleen ≥ 1 cm below the costal margin or diagnosed by ultrasound, magnetic resonance imaging (MRI), or computed tomography (CT) of the spleen.
  • Splenectomized patients without a diagnosis of the cause of unexplained splenomegaly.
• Patients who provide their consent to participate in the study.

EXCLUSION CRITERIA:

• Splenomegaly due to portal hypertension (documented by abdominal ultrasound or another instrumental test) caused by liver disease
• Malignant hematologic tumor [documented by positive physical examination + blood smear or fine-needle aspiration (FNA) or bone marrow biopsy]
• Hemolytic anemia and/or thalassemia
• Patients unable to comply with the protocol requirements due to psychiatric and/or cognitive disorders, non-cooperative patients, or educational and written language comprehension limitations
• Patient refusal to participate in the study

Study Plan

How is the study designed?

Design Details

• Observational Models: Cohort
• Time Perspectives: Other

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Prevalence of Gaucher disease (GD) and acid sphingomyelinase deficiency (ASMD)	Determinate the prevalence of Gaucher disease (GD) and acid sphingomyelinase deficiency (ASMD)	36 months

Collaborators and Investigators

• Sponsor: Fundación Española de Hematología y Hemoterapía

Study record dates

Study Major Dates

• Study Start (Actual): March 21, 2023
• Primary Completion (Actual): September 30, 2024
• Study Completion (Actual): October 31, 2024

Study Registration Dates

• First Submitted: November 29, 2022
• First Submitted That Met QC Criteria: November 29, 2022
• First Posted (Actual): December 7, 2022

Study Record Updates

• Last Update Posted (Actual): February 19, 2026
• Last Update Submitted That Met QC Criteria: February 17, 2026
• Last Verified: February 1, 2026

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Pathological Conditions, Anatomical; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Metabolic Diseases; Lymphatic Diseases; Lipid Metabolism Disorders; Lysosomal Storage Diseases; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Lipid Metabolism, Inborn Errors; Lysosomal Storage Diseases, Nervous System; Histiocytosis, Non-Langerhans-Cell; Histiocytosis; Sphingolipidoses; Lipidoses; Hypertrophy; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases; Niemann-Pick Diseases; Gaucher Disease; Splenomegaly; Surgical Procedures, Operative; Splenectomy
• Other Study ID Numbers: PREDIGA-2

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No
• product manufactured in and exported from the U.S.: No