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

NCT05641103 | Completed

• 1 other identifier: PREDIGA-2
• Study Type: observational
• Target: 122
• Locations: 1 country
• Sites: 14

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.

Conditions

ASMD; Niemann-Pick Diseases; Splenomegaly; Gaucher Disease; Acid SphingoMyelinase Deficiency

Outcome Measures

Primary Outcomes (1)

• Prevalence of Gaucher disease (GD) and acid sphingomyelinase deficiency (ASMD)

  Determinate the prevalence of Gaucher disease (GD) and acid sphingomyelinase deficiency (ASMD)

  36 months

Interventions

Patient with splenomegaly or splenectomy OTHER

No interventional study

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Probability Sample

Study Population

Study of unexplained splenomegaly and splenectomized patients in the adult population

You may qualify if:

• 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.

You may not qualify if:

• 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

Sponsors & Collaborators

• Fundación Española de Hematología y Hemoterapía: lead

Study Sites (14)

Hospital General Universitario de Alicante

Alicante, Alicante, Spain

Location

Hospital de Poniente

El Ejido, Almería, Spain

Location

Hospital Universitario de Badajoz

Badajoz, Badajoz, Spain

Location

Hospital Vall d'Hebron

Barcelona, Barcelona, Spain

Location

Hospital Universitario Juan Ramón Jiménez

Huelva, Huelva, Spain

Location

Complejo Hospitalario Universitario La Coruña - CHUAC

A Coruña, La Coruña, Spain

Location

Complejo Hospitalario Universitario de Santiago - CHUS

Santiago de Compostela, La Coruña, Spain

Location

Hospital Universitario Lucus Augusti

Lugo, Lugo, Spain

Location

Hospital Universitario La Princesa

Madrid, Madrid, Spain

Location

Hospital Universitario de Cabueñes

Gijón, Principality of Asturias, Spain

Location

Hospital Universitario Central de Asturias - HUCA

Oviedo, Principality of Asturias, Spain

Location

CAU Salamanca

Salamanca, Salamanca, Spain

Location

Hospital Universitario Joan XXIII

Tarragona, Tarragona, Spain

Location

Hospital Universitario de Galdácano

Galdakao, Vizcaya, Spain

Location

MeSH Terms

Conditions

Gaucher Disease; Niemann-Pick Diseases; Splenomegaly

Interventions

Splenectomy

Condition Hierarchy (Ancestors)

Sphingolipidoses; Lysosomal Storage Diseases, Nervous System; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Lipidoses; Lipid Metabolism, Inborn Errors; Lysosomal Storage Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases; Lipid Metabolism Disorders; Histiocytosis, Non-Langerhans-Cell; Histiocytosis; Lymphatic Diseases; Hemic and Lymphatic Diseases; Hypertrophy; Pathological Conditions, Anatomical; Pathological Conditions, Signs and Symptoms

Intervention Hierarchy (Ancestors)

Surgical Procedures, Operative

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: OTHER
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: November 29, 2022
• First Posted: December 7, 2022
• Study Start: March 21, 2023
• Primary Completion: September 30, 2024
• Study Completion: October 31, 2024
• Last Updated: February 19, 2026

Record last verified: 2026-02

Data Sharing

• IPD Sharing: Will not share

Locations

ES (14)