Blood test uncovers rare diseases in patients with mysterious enlarged spleen
NCT ID NCT05641103
First seen Jun 27, 2026 · Last updated Jun 27, 2026
Summary
This study looked for two rare genetic diseases, Gaucher disease and acid sphingomyelinase deficiency (ASMD), in 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 enzyme activity and genetic markers. The goal was to see how often these diseases are missed in this group, helping doctors diagnose them earlier.
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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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Conditions
The condition(s) this trial relates to.
As listed by the trial registrant
The condition terms exactly as the trial's registrant entered them.
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