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

Gaucher Disease Clinical Trial

— PREDIGA-2  

Official title:

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

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT05641103
• Other study ID #: PREDIGA-2
• Status: Recruiting
• Start date: March 21, 2023
• Est. completion date: December 31, 2025

Study information

• Verified date: May 2024
• Source: Fundación Española de Hematología y Hemoterapía
• Contact: FEHH SEHH
• Phone: 91 319 19 98
• Email: sehh[@]sehh.es
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 200
• Est. completion date: December 31, 2025
• Est. primary completion date: October 15, 2024
• Gender: All
• Age group: 18 Years and older

Eligibility

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

Related Conditions & MeSH terms

• Acid SphingoMyelinase Deficiency
• Gaucher Disease
• Niemann-Pick Disease, Type C
• Niemann-Pick Diseases
• Pick Disease of the Brain
• Splenomegaly

Intervention

Other:
• Patient with splenomegaly or splenectomy
No interventional study

Locations

Country	Name	City	State
Spain	Hospital General Universitario de Alicante	Alicante
Spain	Hospital Universitario de Badajoz	Badajoz
Spain	Hospital Vall d'Hebron	Barcelona
Spain	Hospital de Poniente	El Ejido	Almería
Spain	Hospital Universitario de Galdácano	Galdácano	Vizcaya
Spain	Hospital Universitario de Cabueñes	Gijón	Asturias
Spain	Hospital Universitario Juan Ramón Jiménez	Huelva
Spain	Complejo Hospitalario Universitario La Coruña - CHUAC	La Coruña
Spain	Hospital Universitario Lucus Augusti	Lugo
Spain	Hospital Universitario La Princesa	Madrid
Spain	Hospital Universitario Central de Asturias - HUCA	Oviedo	Asturias
Spain	Hospital Universitario de Navarra	Pamplona	Navarra
Spain	CAU Salamanca	Salamanca
Spain	Complejo Hospitalario Universitario de Santiago - CHUS	Santiago De Compostela	La Coruña
Spain	Hospital Nuestra Señora del Prado	Talavera De La Reina	Toledo
Spain	Hospital Universitario Joan XXIII	Tarragona

Sponsors (1)

Lead Sponsor	Collaborator
Fundación Española de Hematología y Hemoterapía

Country where clinical trial is conducted

Spain, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Prevalence of Gaucher disease (GD) and acid sphingomyelinase deficiency (ASMD)	Determinate the prevalence of Gaucher disease (GD) and acid sphingomyelinase deficiency (ASMD)	36 months