Acid Sphingomyelinase Deficiency (ASMD)NCT07274826
Diagnostic Creteria of Acid Sphingomyelinase Deficiency (ASMD)
An observational study of Acid Sphingomyelinase Deficiency (ASMD), run by Sohag University at 1 site in Egypt.
Trial summary
Acid sphingomyelinase Deficiency known as Neiman _PICK disease is a group of rare genetic diseases. This study includes analysis of clinical manifestations in patients with ASMD and investigations done for diagnosis of these patients Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Acid Sphingomyelinase Deficiency (ASMD)
- How many people
- 7 participants
- Where
- 1 siteEgypt
- Study dates
- 20 Nov 2025to 10 Sep 2026
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: 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
Who may be able to join
- all patients diagnosed with ASMD in Sohag
Who cannot join
- Patients with hepatosplenomegaly due to other cause Patients who refuse consent
Trial locations and contacts
1 site in 1 country.
About this study
Official title: Intact Potential Symptoms and Biomarker Analysis in Diagnosis of Acid Sphingomyelinase Deficiency (ASMD)
Acid sphingomyelinase Deficiency known as Neiman _PICK disease is a group of rare genetic diseases. This study includes analysis of clinical manifestations in patients with ASMD and investigations done for diagnosis of these patients
- Conditions
- Acid Sphingomyelinase Deficiency (ASMD)
- Keywords
- ASMD, Neiman _PICK disease
- Medical subject headings
- Niemann-Pick Diseases
What is being measured
The primary outcome is the main question the study is designed to answer.
spleen volumes measured by US expressed relative to basaline for each patient
Change in spleen volumes following treatment over 12months study period
Measured: From basaline to month 12
Secondary outcomes (1)
Liver size measured by ultrasound
Changes in liver volume
Measured: Basaline, weak 12,weak 24
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted10 Dec 2025
- Study start20 Nov 2025
- Primary completion10 Aug 2026 (estimated)
- Study completion10 Sep 2026 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Acid Sphingomyelinase Deficiency (ASMD)Studies of the same condition, open and under way.
- More trials run by Sohag UniversityThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case only
- Time perspective
- Retrospective
- Enrolment
- 7 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Sohag University
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Asmaa Nasser Aly, Sohag University
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07274826
- Sponsor's protocol ID
- Soh_Med_25_9____17MS
- Status last verified
- Nov 2025
- First submitted
- 28 Nov 2025
- Last updated
- 10 Dec 2025
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 10 Dec 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Intact Potential Symptoms and Biomarker Analysis in Diagnosis of Acid Sphingomyelinase Deficiency (ASMD)
- ClinicalTrials.gov ID
- NCT07274826
- Acronym / sponsor ID
- Soh_Med_25_9____17MS
- Conditions
- Acid Sphingomyelinase Deficiency (ASMD)
- Keywords
- ASMD, Neiman _PICK disease
- Study type
- Observational
- Recruitment status
- Active, not recruiting
- Enrolment
- 7 participants (estimated)
- Lead sponsor
- Sohag UniversityUniversity, hospital or other
- Study start
- 20 Nov 2025 (actual)
- Primary completion
- 10 Aug 2026 (estimated)
- Study completion
- 10 Sep 2026 (estimated)
- First posted
- 10 Dec 2025 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
Acid sphingomyelinase Deficiency known as Neiman _PICK disease is a group of rare genetic diseases. This study includes analysis of clinical manifestations in patients with ASMD and investigations done for diagnosis of these patients
Study design
- Observational model
- Case only
- Time perspective
- Retrospective
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- 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
Key inclusion criteria (1 listed)
- all patients diagnosed with ASMD in Sohag
Key exclusion criteria (1 listed)
- Patients with hepatosplenomegaly due to other cause Patients who refuse consent
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
spleen volumes measured by US expressed relative to basaline for each patient
Time frame: From basaline to month 12
Change in spleen volumes following treatment over 12months study period
1 secondary outcome
Liver size measured by ultrasound
Time frame: Basaline, weak 12,weak 24
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 10 Dec 2025.
- Individual participant dataSharing planned: No
Related trials for Acid Sphingomyelinase Deficiency (ASMD)
RecruitingObservational study
National Multicentre Study of the Natural History of Acid Sphingo-myelinase Deficiency in Adults and Children
Acid Sphingomyelinase Deficiency (ASMD), Niemann Pick Disease
RecruitingObservational study
A Real-world Long-term Safety and Immunogenicity Study of Olipudase Alfa Therapy in Pediatric Patients Less Than 2 Years of Age With Acid Sphingomyelinase Deficiency (ASMD)
Niemann-Pick Diseases, Acid Sphingomyelinase Deficiency
RecruitingObservational study
GammaGA: Prevalence of Acid Sphingomyelinase Deficiency Disease (ASMD) and Gaucher Disease in Patients With Monoclonal Gammopathies and/or Multiple Myeloma
Gaucher Disease, Acid SphingoMyelinase Deficiency
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
The record lists no contact. Use the official record to reach the sponsor.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Acid Sphingomyelinase Deficiency (ASMD), run by Sohag University at 1 site in Egypt.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 1 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: under way, not looking for participants, as of the sponsor's last update on 10 Dec 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Egypt. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
spleen volumes measured by US expressed relative to basaline for each patient (time frame: From basaline to month 12). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 10 Dec 2025.