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

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.

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Key information

Conditions

Gaucher Disease ASMD Acid Sphingomyelinase Deficiency Brain Diseases Brain Diseases, Metabolic Brain Diseases, Metabolic, Inborn Central Nervous System Diseases Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Hemic and Lymphatic Diseases Histiocytosis Histiocytosis, Non-Langerhans-Cell Hypertrophy Lipid Metabolism Disorders Lipid Metabolism, Inborn Errors Lipidoses Lymphatic Diseases Lysosomal Storage Diseases Lysosomal Storage Diseases, Nervous System Metabolic Diseases Metabolism, Inborn Errors Nervous System Diseases Niemann-Pick Diseases Nutritional and Metabolic Diseases Pathological Conditions, Anatomical Pathological Conditions, Signs and Symptoms Sphingolipidoses Splenomegaly

Age range

18 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

Hospital General Universitario de Alicante, Alicante, Spain

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Patient with splenomegaly or splenectomy

Other

No interventional study

Primary outcomes

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

Time frame: 36 months

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

Sponsors and collaborators

Lead sponsor

Fundación Española de Hematología y Hemoterapía

Other

Registry information

Acronym: PREDIGA-2

Important dates

Study start: 2023
Primary completion: 2024
Study completion: 2024
First posted: Dec 7, 2022
Registry last updated: Feb 19, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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