Prevalence of Acid Sphingomyelinase Deficiency and Gaucher Disease in Patients with Monoclonal Gammopathies

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

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.

Why it matters

Who can join: the full rules

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 it's running

• 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

Study contacts

• Study coordinator: Fehh Sehh, Md
• Email: sehh@sehh.es
• Phone: 91 319 19 98

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.