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Blood test uncovers rare diseases in patients with mysterious enlarged spleen

NCT ID NCT05641103

Knowledge-focused Sponsor: Fundación Española de Hematología y Hemoterapía Source: ClinicalTrials.gov ↗

What the study statuses mean

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Recruitment status, easiest to join first

Recruiting now
This trial is taking on new participants right now.
Not yet recruiting
Registered, but not yet taking participants.
By invitation only
Not open to general applications. Only people the study team invites can take part.
Paused
Paused for now. It may or may not start again.
Ongoing
Running, but no longer taking on new participants.
Completed This study
The trial has finished. Results may not be published yet.
Stopped early
Stopped early, before it reached the end. That can be for many reasons, including safety.
Cancelled
Cancelled before anyone took part.

Expanded access (not trials)

Expanded access
Not a trial. This treatment can be requested outside a study, case by case, for people who qualify.
Expanded access (paused)
Not a trial. The treatment can normally be requested outside a study, but is unavailable right now.
Expanded access (ended)
Not a trial. The treatment could once be requested outside a study, but no longer can.
Approved
The treatment has been approved, so it is available normally rather than through this programme.

When the status isn't known

Details not published
The full record has not been published yet, so there is little to show here.
Status unknown
This status has not been confirmed recently, so it may be out of date.

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.

This is an AI summary of the original study and may miss details. Read our disclaimer.

Study facts

What this study's own registry entry says, in plain language.

Participants

122 people

The number who actually took part.

Started

Mar 2023

Finished

Oct 2024

Lead sponsor

Other sponsor

The registry's catch-all category, for sponsors it does not file as a company, a government agency, or a research network.

Who can take part

This study's own entry requirements. Only the study team can say for certain whether you qualify.

Who is studied

Study of unexplained splenomegaly and splenectomized patients in the adult population

Ages

18 years and older

Sex

Anyone

Healthy volunteers

Not accepted

This study is not open to healthy volunteers. The entry requirements below say who it is open to.

Show the full entry requirements

Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.

INCLUSION CRITERIA: * Adult patients (over 18 years old) of both sexes. * Patients presenting signs, assessed instrumentally or via laboratory tests, of: * Unexplained splenomegaly, defined as a palpable spleen ≥ 1 cm below the costal margin or diagnosed by ultrasound, magnetic resonance imaging (MRI), or computed tomography (CT) of the spleen. * Splenectomized patients without a diagnosis of the cause of unexplained splenomegaly. * Patients who provide their consent to participate in the study. EXCLUSION CRITERIA: * Splenomegaly due to portal hypertension (documented by abdominal ultrasound or another instrumental test) caused by liver disease * Malignant hematologic tumor \[documented by positive physical examination + blood smear or fine-needle aspiration (FNA) or bone marrow biopsy\] * Hemolytic anemia and/or thalassemia * Patients unable to comply with the protocol requirements due to psychiatric and/or cognitive disorders, non-cooperative patients, or educational and written language comprehension limitations * Patient refusal to participate in the study

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Conditions

The condition(s) this trial relates to.

acid sphingomyelinase deficiency anterior segment dysgenesis 1 Gaucher disease Niemann-Pick disease Splenomegaly

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

Acid sphingomyelinase deficiency ASMD Gaucher disease Niemann-Pick diseases Splenomegaly

Contacts and locations

Locations

  • CAU Salamanca

    Salamanca, Salamanca, Spain

  • Complejo Hospitalario Universitario La Coruña - CHUAC

    A Coruña, La Coruña, Spain

  • Complejo Hospitalario Universitario de Santiago - CHUS

    Santiago de Compostela, La Coruña, Spain

  • Hospital General Universitario de Alicante

    Alicante, Alicante, Spain

  • Hospital Universitario Central de Asturias - HUCA

    Oviedo, Principality of Asturias, Spain

  • Hospital Universitario Joan XXIII

    Tarragona, Tarragona, Spain

  • Hospital Universitario Juan Ramón Jiménez

    Huelva, Huelva, Spain

  • Hospital Universitario La Princesa

    Madrid, Madrid, Spain

  • Hospital Universitario Lucus Augusti

    Lugo, Lugo, Spain

  • Hospital Universitario de Badajoz

    Badajoz, Badajoz, Spain

  • Hospital Universitario de Cabueñes

    Gijón, Principality of Asturias, Spain

  • Hospital Universitario de Galdácano

    Galdakao, Vizcaya, Spain

  • Hospital Vall d'Hebron

    Barcelona, Barcelona, Spain

  • Hospital de Poniente

    El Ejido, Almería, Spain

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