A Prospective and Retrospective Cohort Study in Patients With Chronic Forms of Acid Sphingomyelinase Deficiency (ASMD)
Public ClinicalTrials.gov record NCT04106544. Field values are reproduced from the official study page; the official ClinicalTrials.gov record remains the source of truth for eligibility, enrollment, and contact information.
Data is sourced from official ClinicalTrials.gov public API records. Always review the official ClinicalTrials.gov record for the latest information.
Official title
A Prospective and Retrospective Cohort Study to Refine and Expand the Knowledge on Patients With Chronic Forms of Acid Sphingomyelinase Deficiency (ASMD)
Brief summary
Reproduced verbatim from the official ClinicalTrials.gov record. Not medical advice.
Primary Objective: * To describe the clinical features and their severity at the time of diagnosis and their evolution over time in patients with confirmed chronic visceral and chronic neurovisceral forms of ASMD * To describe Clinician-Reported Outcomes (ClinROs) and Patient-Reported Outcomes (PROs) at enrollment and their evolution over time; disease severity at the time of diagnosis and its evolution over time Secondary Objectives: * To describe abnormal values in laboratory parameters and all values of specific clinical and imaging assessments at the time of diagnosis and their evolution over time * To study the use and applicability towards validation of a newly developed ASMD disease severity scoring system * To study the use and applicability towards validation of a newly developed ASMD PRO tool * To describe ASMD-related disease burden among patients with ASMD, caregivers, and healthcare resource utilization * To describe the association between patient demographics (eg, age, gender, race, Ashkenazi ancestry) and genotype with selected clinical features in patients with confirmed chronic visceral and chronic neurovisceral forms of ASMD
Study identification
- NCT ID
- NCT04106544
- Recruitment status
- Completed
- Study type
- Interventional
- Phase
- Not applicable
- Enrollment
- 84 participants
Conditions and interventions
Conditions
Eligibility (public fields only)
- Age range
- Not listed
- Sex
- All
- Healthy volunteers
- Healthy volunteers not accepted
This page does not interpret eligibility. Detailed inclusion and exclusion criteria are on the official ClinicalTrials.gov record.
Study timeline
- Start date
- Sep 26, 2019
- Primary completion
- May 14, 2023
- Completion
- May 14, 2023
- Last update posted
- Aug 15, 2023
2019 – 2023
United States locations
- U.S. sites
- 3
- U.S. states
- 2
- U.S. cities
- 3
| Facility | City | State | ZIP | Site status |
|---|---|---|---|---|
| Investigational Site Number :8400002 | Atlanta | Georgia | 30322 | — |
| Investigational Site Number :8400003 | The Bronx | New York | 10467 | — |
| Investigational Site Number :8400001 | Valhalla | New York | 10595 | — |
Site contact phone numbers, emails, and investigator names are intentionally not displayed here. Open the official ClinicalTrials.gov record for site contact information.
Non-U.S. locations
This page focuses on the U.S. directory. The official record also lists 25 non-U.S. sites.
About this trial record page
- What this page shows
- Public field values for ClinicalTrials.gov record NCT04106544, including study identification, conditions, interventions, eligibility (age, sex, healthy volunteer), timeline, and U.S. site list.
- What this page does not do
- No medical advice, eligibility judgments, treatment recommendations, study quality scoring, or AI-generated medical summaries. No site contact phone numbers, emails, or investigator names.
- Where the data comes from
- Sourced from the official ClinicalTrials.gov public API. The official record is the source of truth.
- Last refresh
- Last update posted Aug 15, 2023 · Synced Sep 11, 2026
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Open the official record
The complete protocol, eligibility criteria, and contact information for NCT04106544 live on ClinicalTrials.gov.