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

Sponsor

Fundación Española de Hematología y Hemoterapía (Other)

Overall Status

Not yet recruiting

CT.gov ID

NCT05641103

Collaborator

(none)

200

Enrollment

Location

35.2

Anticipated Duration (Months)

5.7

Patients Per Site Per Month

Study Details

Study Description

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.

Condition or Disease	Intervention/Treatment	Phase
Gaucher Disease Acid SphingoMyelinase Deficiency ASMD Niemann-Pick Diseases Splenomegaly	Other: Patient with splenomegaly or splenectomy

Study Design

Study Type:

Observational

Anticipated Enrollment :

200 participants

Observational Model:

Cohort

Time Perspective:

Other

Official Title:

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

Anticipated Study Start Date :

Jan 26, 2023

Anticipated Primary Completion Date :

Jan 26, 2024

Anticipated Study Completion Date :

Dec 31, 2025

Outcome Measures

Primary Outcome Measures

Prevalence of Gaucher disease (GD) and acid sphingomyelinase deficiency (ASMD) [36 months]
Determinate the prevalence of Gaucher disease (GD) and acid sphingomyelinase deficiency (ASMD)

Eligibility Criteria

Criteria

Ages Eligible for Study:

18 Years and Older

Sexes Eligible for Study:

All

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