GammaGA: Prevalence of Acid Sphingomyelinase Deficiency Disease (ASMD) and Gaucher Disease in Patients With Monoclonal Gammopathies and/or Multiple Myeloma

Launched by FUNDACIÓN ESPAÑOLA DE HEMATOLOGÍA Y HEMOTERAPÍA · Aug 8, 2023

Keywords

ClinConnect Summary

The GammaGA trial is studying two rare genetic conditions called Acid Sphingomyelinase Deficiency Disease (ASMD) and Gaucher Disease in patients who have certain blood disorders known as monoclonal gammopathies or multiple myeloma. The goal of this research is to better understand why some patients have an enlarged spleen (a condition called splenomegaly) and to identify those who might have these genetic conditions. The researchers believe that there may be a link between these blood disorders and the two diseases they are studying, and they want to improve the diagnosis for patients who currently do not have a clear explanation for their symptoms.

To participate in this trial, adult patients of any gender who have an enlarged spleen or have had their spleen removed for unclear reasons may be eligible. Participants will need to provide consent and may also have a blood sample taken for testing. This study is currently recruiting patients, and those involved can expect to undergo standard clinical assessments to determine if they have Gaucher Disease or ASMD. It's important to note that patients with certain conditions, such as liver disease or specific blood cancers, will not be included in the study. Overall, this trial aims to help identify and better understand these two genetic diseases, which can ultimately lead to improved care for affected individuals.

Gender

ALL

Eligibility 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