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

Fundación Española de Hematología y Hemoterapía

Status: Active, not recruiting

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

Treatments: Other: Patient with splenomegaly or splenectomy

Study type: Observational

Funder types: Other

Identifiers

NCT05641103

PREDIGA-2

Details and patient eligibility

About

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.

Enrollment: 122 patients

Sex: All

Ages: 18+ years old

Volunteers: No Healthy Volunteers

Inclusion criteria

• 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.

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