Gaucher DiseasePREDIGA-2NCT05641103
PREDIGA 2: Spanish Acronym of "Educational and Diagnostic Project for Gaucher and ASMD"
An observational study of Gaucher Disease and Acid SphingoMyelinase Deficiency, run by Fundación Española de Hematología y Hemoterapía at 14 sites in Spain.
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. Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Gaucher Disease, Acid SphingoMyelinase Deficiency, ASMD
- What is being tested?
- Patient with splenomegaly or splenectomy
- How many people
- 122 participants
- Where
- 14 sitesSpain
- Study dates
- 21 Mar 2023to 31 Oct 2024
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- No healthy volunteers
- Adult, Older adult
Study population: Study of unexplained splenomegaly and splenectomized patients in the adult population
Who may be able to join
- Adult patients (over 18 years old) of both sexes.
- Patients presenting signs, assessed instrumentally or via laboratory tests, of:
- Unexplained splenomegaly, defined as a palpable spleen ≥ 1 cm below the costal margin or diagnosed by ultrasound, magnetic resonance imaging (MRI), or computed tomography (CT) of the spleen.
- Splenectomized patients without a diagnosis of the cause of unexplained splenomegaly.
- Patients who provide their consent to participate in the study.
Who cannot join
- Splenomegaly due to portal hypertension (documented by abdominal ultrasound or another instrumental test) caused by liver disease
- Malignant hematologic tumor [documented by positive physical examination + blood smear or fine-needle aspiration (FNA) or bone marrow biopsy]
- Hemolytic anemia and/or thalassemia
- Patients unable to comply with the protocol requirements due to psychiatric and/or cognitive disorders, non-cooperative patients, or educational and written language comprehension limitations
- Patient refusal to participate in the study
Trial locations and contacts
14 sites in 1 country.
14 sites in 1 country
Spain14 sites
Complejo Hospitalario Universitario La Coruña - CHUAC
A Coruña, La Coruña
Hospital General Universitario de Alicante
Alicante, Alicante
Hospital Universitario de Badajoz
Badajoz, Badajoz
Hospital Vall d'Hebron
Barcelona, Barcelona
Hospital de Poniente
El Ejido, Almería
Hospital Universitario de Galdácano
Galdakao, Vizcaya
Hospital Universitario de Cabueñes
Gijón, Principality of Asturias
Hospital Universitario Juan Ramón Jiménez
Huelva, Huelva
Hospital Universitario Lucus Augusti
Lugo, Lugo
Hospital Universitario La Princesa
Madrid, Madrid
Hospital Universitario Central de Asturias - HUCA
Oviedo, Principality of Asturias
CAU Salamanca
Salamanca, Salamanca
Complejo Hospitalario Universitario de Santiago - CHUS
Santiago de Compostela, La Coruña
Hospital Universitario Joan XXIII
Tarragona, Tarragona
About this study
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.
- Conditions
- Gaucher Disease, Acid SphingoMyelinase Deficiency, ASMD, Niemann-Pick Diseases, Splenomegaly
- Being tested
- Patient with splenomegaly or splenectomy
- Medical subject headings
- Gaucher Disease, Niemann-Pick Diseases, Splenomegaly
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Patient with splenomegaly or splenectomyOther
No interventional study
What is being measured
The primary outcome is the main question the study is designed to answer.
Prevalence of Gaucher disease (GD) and acid sphingomyelinase deficiency (ASMD)
Determinate the prevalence of Gaucher disease (GD) and acid sphingomyelinase deficiency (ASMD)
Measured: 36 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted7 Dec 2022
- Study start21 Mar 2023
- Primary completion30 Sep 2024
- Study completion31 Oct 2024
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Gaucher DiseaseStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Other
- Enrolment
- 122 participants (actual)
Sponsor and investigators
- Lead sponsor
- Fundación Española de Hematología y Hemoterapía
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05641103
- Sponsor's protocol ID
- PREDIGA-2
- Acronym
- PREDIGA-2
- Status last verified
- Feb 2026
- First submitted
- 29 Nov 2022
- Last updated
- 19 Feb 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 19 Feb 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- PREDIGA 2: Spanish Acronym of "Educational and Diagnostic Project for Gaucher and ASMD"
- ClinicalTrials.gov ID
- NCT05641103
- Acronym / sponsor ID
- PREDIGA-2 / PREDIGA-2
- Conditions
- Gaucher Disease, Acid SphingoMyelinase Deficiency, ASMD, Niemann-Pick Diseases, Splenomegaly
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 122 participants (actual)
- Lead sponsor
- Fundación Española de Hematología y HemoterapíaUniversity, hospital or other
- Study start
- 21 Mar 2023 (actual)
- Primary completion
- 30 Sep 2024 (actual)
- Study completion
- 31 Oct 2024 (actual)
- First posted
- 7 Dec 2022 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Cohort
- Time perspective
- Other
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- Study of unexplained splenomegaly and splenectomized patients in the adult population
Key inclusion criteria (5 listed)
- Adult patients (over 18 years old) of both sexes.
- Patients presenting signs, assessed instrumentally or via laboratory tests, of:
- Patients who provide their consent to participate in the study.
Key exclusion criteria (5 listed)
- Splenomegaly due to portal hypertension (documented by abdominal ultrasound or another instrumental test) caused by liver disease
- Malignant hematologic tumor [documented by positive physical examination + blood smear or fine-needle aspiration (FNA) or bone marrow biopsy]
- Hemolytic anemia and/or thalassemia
- Patients unable to comply with the protocol requirements due to psychiatric and/or cognitive disorders, non-cooperative patients, or educational and written language comprehension limitations
- Patient refusal to participate in the study
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Patient with splenomegaly or splenectomyNo interventional study | Other | – |
Primary outcome
Prevalence of Gaucher disease (GD) and acid sphingomyelinase deficiency (ASMD)
Time frame: 36 months
Determinate the prevalence of Gaucher disease (GD) and acid sphingomyelinase deficiency (ASMD)
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 19 Feb 2026.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
The record lists no contact. Use the official record to reach the sponsor.
14 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Gaucher Disease and Acid SphingoMyelinase Deficiency, run by Fundación Española de Hematología y Hemoterapía at 14 sites in Spain.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 5 inclusion and 5 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 19 Feb 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 14 sites in Spain. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Prevalence of Gaucher disease (GD) and acid sphingomyelinase deficiency (ASMD) (time frame: 36 months). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 19 Feb 2026.