ClinicalTrials.gov record NCT05992532
GammaGA: Prevalence of Acid Sphingomyelinase Deficiency Disease (ASMD) and Gaucher Disease in Patients With Monoclonal Gammopathies and/or Multiple Myeloma
GammaGA: Study of the Prevalence of Acid Sphingomyelinase Deficiency Disease (ASMD) and Gaucher Disease in Patients With Monoclonal Gammopathies and/or Multiple Myeloma
AI summaryWhat this study is about, in plain languageShow ▾Hide ▴
AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.
This observational cross-sectional study looks for how common Gaucher disease (GD) and acid sphingomyelinase deficiency (ASMD) are in adults referred for unexplained splenomegaly, prior splenectomy without a diagnosis, or thrombocytopenia, including people with monoclonal gammopathies or multiple myeloma. Participants provide a dried blood spot (DBS) sample for enzymatic and genetic testing and have their clinical information reviewed. The study seeks to improve detection of undiagnosed causes of splenomegaly.
What it is studying. The study tests how often GD and ASMD occur in adults with unexplained splenomegaly, splenectomy of unknown cause, or thrombocytopenia—groups that include people with monoclonal gammopathy of undetermined significance (MGUS) or multiple myeloma. It uses a dried blood spot (DBS) sample to measure enzymatic and genetic activity and to analyze LisoGl1 and LisoSM.
What the researchers hope to learn. Determine the prevalence of Gaucher disease and ASMD among the study population; increase diagnostic sensitivity for unexplained splenomegaly or splenectomy of unknown cause; analyze enzymatic/genetic activity and levels of LisoGl1 and LisoSM.
What this study is about
The study's own summary, as published on ClinicalTrials.gov. Underlined terms have a short explanation.
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.
Eligibility
The criteria exactly as listed on ClinicalTrials.gov. Only the study team can say whether they apply to you.
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
Study description and what participation involves
The registry record has no detailed description beyond the summary above.
AI summaryWhat participation may involve, in plain languageShow ▾Hide ▴
AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.
After giving informed consent, participants will undergo the usual clinical evaluation for unexplained splenomegaly or follow-up after splenectomy. The study includes providing a blood sample via a dry blood spot (DBS) for enzymatic and genetic testing for Gaucher disease and ASMD and for analysis of LisoGl1 and LisoSM. Routine clinical and imaging tests already used in your care may be reviewed or repeated as needed.
How the study is structured. Observational, cross-sectional cohort study. Participants give a dried blood spot (DBS) sample and clinical data are reviewed once to assess the presence of GD or ASMD; no treatments are assigned.
Questions you could ask
These questions are suggestions for a conversation with the study team or your own clinician, not advice.
- The registry lists this study under Gaucher Disease; Acid SphingoMyelinase Deficiency. Does it apply to my diagnosis?
- This is an observational study, so the study itself gives no treatment. What would taking part involve for me, and would it change my usual care?
- The listed sites are in Spain. Is any of them reachable for me, and does the study help with travel?
- Which of the eligibility criteria would need to be checked with tests before I could join?
More on Niemann-Pick disease type C
This trial is also listed on this site under Gaucher disease.
Important dates
- Study start
- May 30, 2023
- Primary completion
- Dec 31, 2025
- Study completion
- May 2026 (estimated)
- Target enrollment
- 210 participants (estimated)
- Last updated on registry
- Feb 11, 2026
- Data verified
- Oct 10, 2026
Sponsor and research team
The lead sponsor funds and oversees the trial. A pharmaceutical or biotech company sponsor typically means the study is testing that company's drug or device; a hospital, university, or government agency usually indicates investigator-initiated or publicly funded research.
- Lead sponsor
- Fundación Española de Hematología y Hemoterapía
Central study contact
If you're interested in participating, the central contact can answer general questions about the study — including eligibility requirements and how to find a recruiting site near you. Actual eligibility is determined by the site's medical team.
- FEHH SEHH, MD 📞 91 319 19 98 ✉ sehh@sehh.es
Participating sites (23)
- Hospital Universitario de ÁlavaRecruiting
Vitoria-Gasteiz, Alava · Spain
- Xabier Gutiérrez López de Ocáriz, MD
- Hospital Universitario TorrecárdenasRecruiting
Almería, Almería · Spain
- Alejandro Ponce Navarro, MD
- Hospital Son EspasesRecruiting
Palma de Mallorca, Balearic Islands · Spain
- Albert Pérez, MD
- Hospital Parc TaulíRecruiting
Sabadell, Barcelona · Spain
- Marta Gomez Nuñez, MD
- Hospital Universitario de BurgosRecruiting
Burgos, Burgos · Spain
- Beatriz Cuevas, MD
- Hospital de ValdepeñasRecruiting
Valdepeñas, Ciudad Real, 28040 · Spain
- Bolívar Luis Díaz Jordán, MD · +034 913191998 · sehh@sehh.es
- Hospital Universitario Dr. Josep TruetaRecruiting
Girona, Girona · Spain
- Yolanda González, MD
- Hospital Universitario Virgen de las NievesRecruiting
Granada, Granada · Spain
- Antonio Cruz, MD
- Hospital San JorgeRecruiting
Huesca, Huesca · Spain
- María Flor Yus Cebrián, MD
- Hospital de JaénRecruiting
Jaén, Jaén · Spain
- Juan Antonio López López, MD
Terms used on this page · explanations by MedicalUpdates.ai
- follow-up
- The period after treatment or enrolment during which participants are observed or contacted, for example to record side effects or outcomes.
- biopsy
- Removal of a small piece of tissue so it can be examined under a microscope. 'Biopsy-proven' or 'histologically confirmed' means the diagnosis was confirmed by examining tissue under a microscope.
- Inclusion Criteria
- The conditions a person must meet to be considered for the study, for example a confirmed diagnosis, an age range or a test result.
- Exclusion Criteria
- The conditions that rule a person out even if they meet the inclusion criteria, for example other illnesses, certain medicines or pregnancy.
The study record on this page is reproduced from ClinicalTrials.gov, a database of the U.S. National Library of Medicine, where it was submitted by the study sponsor. MedicalUpdates.ai does not own this content, is not affiliated with or endorsed by ClinicalTrials.gov, NIH, or the U.S. Government, and does not verify the record. Plain-language notes, the glossary and the questions above are added by this site; text in the boxes marked "AI summary" was written by an AI model and may contain errors. Registry records change over time. Check the original record for the current version and discuss eligibility or participation with a qualified healthcare professional.
← Back to clinical trials