Clinical trial NCT05641103: PREDIGA 2: Spanish Acronym of "Educational and Diagnostic Project for Gaucher and ASMD"
Official title: PREDIGA 2: Spanish Acronym of "Educational and Diagnostic Project for Gaucher and ASMD"
Study type: OBSERVATIONAL
Overall status: ACTIVE_NOT_RECRUITING
Conditions: Gaucher Disease
Acid SphingoMyelinase Deficiency
ASMD
Niemann-Pick Diseases
Splenomegaly
Lead sponsor: Fundación Española de Hematología y Hemoterapía
Sponsor class: OTHER
First posted: 2022-12-07
Enrollment: 122
Sex: ALL
Minimum age (years): 18
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: OTHER
Sampling method: PROBABILITY_SAMPLE
Study population: Patients with splenomegaly and unknown splenectomized

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.


Eligibility criteria: 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

Primary outcomes:
measure: Prevalence of Gaucher disease (GD) and acid sphingomyelinase deficiency (ASMD)
timeFrame: 36 months
Secondary outcomes:
Other outcomes:
Locations:
city: El Ejido
country: Spain
facility: Hospital de Poniente
state: Almería
city: Gijón
country: Spain
facility: Hospital Universitario de Cabueñes
state: Asturias
city: Oviedo
country: Spain
facility: Hospital Universitario Central de Asturias - HUCA
state: Asturias
city: Santiago De Compostela
country: Spain
facility: Complejo Hospitalario Universitario de Santiago - CHUS
state: La Coruña
city: Galdácano
country: Spain
facility: Hospital Universitario de Galdácano
state: Vizcaya
city: Alicante
country: Spain
facility: Hospital General Universitario de Alicante
city: Badajoz
country: Spain
facility: Hospital Universitario de Badajoz
city: Barcelona
country: Spain
facility: Hospital Vall d'Hebron
city: Huelva
country: Spain
facility: Hospital Universitario Juan Ramón Jiménez
city: La Coruña
country: Spain
facility: Complejo Hospitalario Universitario La Coruña - CHUAC
city: Lugo
country: Spain
facility: Hospital Universitario Lucus Augusti
city: Madrid
country: Spain
facility: Hospital Universitario La Princesa
city: Salamanca
country: Spain
facility: CAU Salamanca
city: Tarragona
country: Spain
facility: Hospital Universitario Joan XXIII
Study officials:
References: