Simple blood test uncovers rare diseases in patients with unexplained enlarged spleen
NCT ID NCT05641103
First seen Mar 01, 2026 · Last updated May 24, 2026 · Updated 17 times
Summary
This study looked at 122 adults with an unexplained enlarged spleen or who had their spleen removed for unknown reasons. Researchers used a simple blood spot test to check for two rare genetic disorders: Gaucher disease and acid sphingomyelinase deficiency (ASMD). The goal was to see how common these diseases are in this group and improve diagnosis.
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Summaries may miss details or leave out important information. Before applying or accepting participation, make sure you have read and understood the full study. Curemydisease.com takes no responsibility whatsoever for anything missed, misunderstood, or acted upon as a result of our summary — we know it does not capture everything.
This is a summary of the original study . Summaries may miss details or leave out important information. Before applying or accepting participation, make sure you have read and understood the full study. Curemydisease.com takes no responsibility whatsoever for anything missed, misunderstood, or acted upon as a result of our summary — we know it does not capture everything.
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Contacts and locations
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Locations
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CAU Salamanca
Salamanca, Salamanca, Spain
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Complejo Hospitalario Universitario La Coruña - CHUAC
A Coruña, La Coruña, Spain
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Complejo Hospitalario Universitario de Santiago - CHUS
Santiago de Compostela, La Coruña, Spain
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Hospital General Universitario de Alicante
Alicante, Alicante, Spain
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Hospital Universitario Central de Asturias - HUCA
Oviedo, Principality of Asturias, Spain
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Hospital Universitario Joan XXIII
Tarragona, Tarragona, Spain
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Hospital Universitario Juan Ramón Jiménez
Huelva, Huelva, Spain
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Hospital Universitario La Princesa
Madrid, Madrid, Spain
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Hospital Universitario Lucus Augusti
Lugo, Lugo, Spain
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Hospital Universitario de Badajoz
Badajoz, Badajoz, Spain
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Hospital Universitario de Cabueñes
Gijón, Principality of Asturias, Spain
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Hospital Universitario de Galdácano
Galdakao, Vizcaya, Spain
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Hospital Vall d'Hebron
Barcelona, Barcelona, Spain
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Hospital de Poniente
El Ejido, Almería, Spain
Conditions
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