Prevalence of Acid Sphingomyelinase Deficiency and Gaucher Disease in Patients with Monoclonal Gammopathies
GammaGA: Study of the Prevalence of Acid Sphingomyelinase Deficiency Disease (ASMD) and Gaucher Disease in Patients With Monoclonal Gammopathies and/or Multiple Myeloma
This study is trying to see how common Acid Sphingomyelinase Deficiency and Gaucher Disease are in patients with monoclonal gammopathies, especially those with an enlarged spleen or who have had their spleen removed.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 210 (estimated) |
| Ages | 18 Years to 99 Years |
| Sex | All |
| Sponsor | Fundación Española de Hematología y Hemoterapía Academic / other |
| Locations | 23 sites (Vitoria-Gasteiz, Alava and 22 other locations) |
| Trial ID | NCT05992532 on ClinicalTrials.gov |
What this trial studies
This observational study aims to investigate the prevalence of Acid Sphingomyelinase Deficiency Disease (ASMD) and Gaucher Disease among patients diagnosed with monoclonal gammopathies and/or multiple myeloma. It focuses on patients presenting with splenomegaly or those who have undergone splenectomy, assessing their conditions to identify undiagnosed cases. The study will collect data from various hospitals to better understand the relationship between these diseases and the prevalence of monoclonal gammopathies. By analyzing patient data, the study seeks to improve diagnostic accuracy and patient management.
Who should consider this trial
Good fit: Ideal candidates include adult patients with splenomegaly or those who have had a splenectomy not related to specific conditions.
Not a fit: Patients with splenomegaly due to portal hypertension or those with documented hematologic malignancies may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to improved diagnosis and management of ASMD and Gaucher Disease in patients with monoclonal gammopathies.
How similar studies have performed: Previous studies have indicated a potential link between Gaucher Disease and monoclonal gammopathies, suggesting that this approach may yield valuable insights.
Eligibility criteria
Show full inclusion / exclusion 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
Where this trial is running
Vitoria-Gasteiz, Alava and 22 other locations
- Hospital Universitario de Álava — Vitoria-Gasteiz, Alava, Spain (Recruiting)
- Hospital Universitario Torrecárdenas — Almería, Almería, Spain (Recruiting)
- Hospital Son Espases — Palma de Mallorca, Balearic Islands, Spain (Recruiting)
- Hospital Parc Taulí — Sabadell, Barcelona, Spain (Recruiting)
- Hospital Universitario de Burgos — Burgos, Burgos, Spain (Recruiting)
- Hospital de Valdepeñas — Valdepeñas, Ciudad Real, Spain (Recruiting)
- Hospital Universitario Dr. Josep Trueta — Girona, Girona, Spain (Recruiting)
- Hospital Universitario Virgen de las Nieves — Granada, Granada, Spain (Recruiting)
- Hospital San Jorge — Huesca, Huesca, Spain (Recruiting)
- Hospital de Jaén — Jaén, Jaén, Spain (Recruiting)
- Hospital del Bierzo — Ponferrada, León, Spain (Recruiting)
- Hospital Arnau de Vilanova — Lleida, Lleida, Spain (Recruiting)
- Hospital Universitario La Paz — Madrid, Madrid, Spain (Recruiting)
- Hospital Universitario Ramón y Cajal — Madrid, Madrid, Spain (Recruiting)
- Hospital Fundación Jiménez Díaz — Madrid, Madrid, Spain (Recruiting)
- Hospital Regional Universitario de Málaga — Málaga, Málaga, Spain (Recruiting)
- Complejo Hospitalario Universitario de Orense — Ourense, Orense, Spain (Recruiting)
- Hospital Alvaro Cunqueiro — Vigo, Pontevedra, Spain (Recruiting)
- Hospital Alcañiz — Alcañiz, Teruel, Spain (Recruiting)
- Hospital de Manises — Valencia, Valencia, Spain (Recruiting)
- Hospital Universitario y Politécnico La Fe — Valencia, Valencia, Spain (Recruiting)
- Hospital Clínico Universitario de Valladolid — Valladolid, Zaragoza, Spain (Recruiting)
- Complejo Asistencial de Ávila — Ávila, Ávila, Spain (Recruiting)
Study contacts
- Study coordinator: Fehh Sehh, Md
- Email: sehh@sehh.es
- Phone: 91 319 19 98
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.