Trial Title:
GammaGA: Prevalence of Acid Sphingomyelinase Deficiency Disease (ASMD) and Gaucher Disease in Patients With Monoclonal Gammopathies and/or Multiple Myeloma
NCT ID:
NCT05992532
Condition:
Gaucher Disease
Acid SphingoMyelinase Deficiency
Conditions: Official terms:
Multiple Myeloma
Neoplasms, Plasma Cell
Gaucher Disease
Niemann-Pick Diseases
Niemann-Pick Disease, Type A
Niemann-Pick Disease, Type C
Paraproteinemias
Monoclonal Gammopathy of Undetermined Significance
Deficiency Diseases
Conditions: Keywords:
Gaucher disease
Acid sphingomyelinase deficiency
GD
ASMD
DBS
Splenomegaly
monoclonal gammopathies
multiple myeloma
Study type:
Observational
Overall status:
Recruiting
Study design:
Time perspective:
Cross-Sectional
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. 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.
Several studies have suggested that there is an increased frequency of MGUS (monoclonal
gammopathy of undetermined significance) and/or multiple myeloma (MM) among Gaucher
patients. Regarding ASMD (Acid Sphingomyelinase Deficiency), few studies have been
published but it seems the 21% of patient with ASMD has MGUS and 15% ASMD patients have
MGUS. Moreover, patients with MGUS and Gaucher disease (GD) are at increased risk of
developing MM.
The objective of the present study is to increase the diagnostic sensitivity of these
unknown splenomegalys, or unknown splenomegaly patients with MGUS or multiple myeoloma
who remain in consultations, using the usual diagnostic clinical procedures of unknown
splenomegaly and unknown splenectomy patients, where we 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.
Criteria for eligibility:
Study pop:
- 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 thrombocytopenia. In cases where the patient is undergoing treatment
for their underlying condition, the thrombocytopenia must have been present prior to
the start of the treatment
Sampling method:
Non-Probability Sample
Criteria:
Inclusion Criteria:
- Adult patients of both sexes.
- Patients with splenomegaly (spleen palpable at ≥ 1cm from the costal margin) or
splenectomy not related to any specific condition, or patients with thrombocytopenia
(with or without splenomegaly). In cases where the patient is undergoing treatment
for their underlying condition, the thrombocytopenia must have been present prior to
the start of the treatment.
- Patient who gives their 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
Gender:
All
Minimum age:
18 Years
Maximum age:
99 Years
Locations:
Facility:
Name:
Hospital Universitario de Álava
Address:
City:
Vitoria
Country:
Spain
Status:
Recruiting
Contact:
Last name:
Xabier Gutiérrez López de Ocáriz, MD
Facility:
Name:
Hospital Parc Taulí
Address:
City:
Sabadell
Country:
Spain
Status:
Recruiting
Contact:
Last name:
Marta Gomez Nuñez, MD
Facility:
Name:
Hospital de Manises
Address:
City:
Valencia
Country:
Spain
Status:
Recruiting
Contact:
Last name:
Dolores Gómez Toboso, MD
Facility:
Name:
Hospital Son Espases
Address:
City:
Palma De Mallorca
Country:
Spain
Status:
Recruiting
Contact:
Last name:
Albert Pérez, MD
Facility:
Name:
Hospital del Bierzo
Address:
City:
Ponferrada
Country:
Spain
Status:
Recruiting
Contact:
Last name:
Erik del Cabo, MD
Facility:
Name:
Hospital Alvaro Cunqueiro
Address:
City:
Vigo
Country:
Spain
Status:
Recruiting
Contact:
Last name:
Carmen Albo López, MD
Facility:
Name:
Hospital Alcañiz
Address:
City:
Alcañiz
Country:
Spain
Status:
Recruiting
Contact:
Last name:
Andrés Medinaveitia, MD
Facility:
Name:
Hospital Clínico Universitario de Valladolid
Address:
City:
Valladolid
Country:
Spain
Status:
Recruiting
Contact:
Last name:
Carmen Pérez Martínez, MD
Facility:
Name:
Hospital Universitario Torrecárdenas
Address:
City:
Almería
Country:
Spain
Status:
Recruiting
Contact:
Last name:
Alejandro Ponce Navarro, MD
Facility:
Name:
Hospital Universitario de Burgos
Address:
City:
Burgos
Country:
Spain
Status:
Recruiting
Contact:
Last name:
Beatriz Cuevas, MD
Facility:
Name:
Hospital Universitario Dr. Josep Trueta
Address:
City:
Girona
Country:
Spain
Status:
Recruiting
Contact:
Last name:
Yolanda González, MD
Facility:
Name:
Hospital Universitario Virgen de las Nieves
Address:
City:
Granada
Country:
Spain
Status:
Recruiting
Contact:
Last name:
Antonio Cruz, MD
Facility:
Name:
Hospital San Jorge
Address:
City:
Huesca
Country:
Spain
Status:
Recruiting
Contact:
Last name:
María Flor Yus Cebrián, MD
Facility:
Name:
Hospital de Jaén
Address:
City:
Jaén
Country:
Spain
Status:
Recruiting
Contact:
Last name:
Juan Antonio López López, MD
Facility:
Name:
Hospital Arnau de Vilanova
Address:
City:
Lleida
Country:
Spain
Status:
Recruiting
Contact:
Last name:
Antonio García Guiñón, MD
Facility:
Name:
Hospital Universitario Ramón y Cajal
Address:
City:
Madrid
Zip:
28040
Country:
Spain
Status:
Recruiting
Contact:
Last name:
María del Mar Meijón Ortigueira, MD
Facility:
Name:
Hospital Fundación Jiménez Díaz
Address:
City:
Madrid
Country:
Spain
Status:
Recruiting
Contact:
Last name:
Pilar Llamas Sillero, MD
Facility:
Name:
Hospital Regional Universitario de Málaga
Address:
City:
Málaga
Country:
Spain
Status:
Recruiting
Contact:
Last name:
Alejandro Contento Gonzalo, MD
Facility:
Name:
Complejo Hospitalario Universitario de Orense
Address:
City:
Orense
Country:
Spain
Status:
Recruiting
Contact:
Last name:
José Ángel Méndez Sánchez, MD
Facility:
Name:
Hospital Universitario y Politécnico La Fe
Address:
City:
Valencia
Country:
Spain
Status:
Recruiting
Contact:
Last name:
Javier de la Rubia, MD
Facility:
Name:
Complejo Asistencial de Ávila
Address:
City:
Ávila
Country:
Spain
Status:
Recruiting
Contact:
Last name:
Abelardo Bárez García, MD
Start date:
May 30, 2023
Completion date:
March 2026
Lead sponsor:
Agency:
Fundación Española de Hematología y Hemoterapía
Agency class:
Other
Source:
Fundación Española de Hematología y Hemoterapía
Record processing date:
ClinicalTrials.gov processed this data on November 12, 2024
Source: ClinicalTrials.gov page:
https://clinicaltrials.gov/ct2/show/NCT05992532
