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Rare disease diagnosis boost: new study eyes key clues in ASMD patients

NCT ID NCT07274826

Knowledge-focused Sponsor: Sohag University Source: ClinicalTrials.gov ↗

What the study statuses mean

This study's is highlighted.

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 This study
Running, but no longer taking on new participants.
Completed
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 Results may not be published yet.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This status has not been confirmed recently, so it may be out of date.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 looks at symptoms and lab tests to help doctors better diagnose acid sphingomyelinase deficiency (ASMD), also known as Niemann-Pick disease, a rare genetic disorder. Researchers will track changes in spleen and liver size using ultrasound over 12 months in 7 patients. The goal is to improve how this condition is identified and monitored.

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

About 7 people

The number the study aims to enrol. It can still change while the study runs.

Started

Nov 2025

Expected to finish

Sep 2026

An estimate. End dates often move.

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

The study population will consist of patients diagnosed with Niemann \_PICK disease specifically confirmed through clinical evaluation, biochemical testing and genetic analysis, receiving follow up and clinical care at hematology and git and metabolic centre's in Sohag Patients may present with variable neurological, visceral, or systemic manifestations characteristic of Niemann \_PICK disease. Recruitment will include both newly diagnosed and previously diagnosed who meet the eligibility criteria

Ages

Children (under 18), adults (18 to 64) and older adults (65 and over)

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: * all patients diagnosed with ASMD in Sohag Exclusion Criteria: * Patients with hepatosplenomegaly due to other cause Patients who refuse consent

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Conditions

The condition(s) this trial relates to.

acid sphingomyelinase deficiency Niemann-Pick disease

As listed by the trial registrant

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

Acid sphingomyelinase deficiency (ASMD)

Contacts and locations

Locations

  • Sohag University Hospital

    Sohag, Egypt