Status:
COMPLETED
A Prospective and Retrospective Cohort Study in Patients With Chronic Forms of Acid Sphingomyelinase Deficiency (ASMD)
Lead Sponsor:
Sanofi
Conditions:
Sphingomyelin Lipidosis
Eligibility:
All Genders
Phase:
NA
Brief Summary
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 ...
Detailed Description
Estimated average of study duration (for each patient) is 2 years
Eligibility Criteria
Inclusion
- Inclusion criteria :
- Patients with confirmed diagnosis of chronic forms of ASMD based on 1) a clinical diagnosis consistent with chronic visceral ASMD (ie, NPD B) or chronic neurovisceral ASMD (ie, NPD B variant or intermediate NPD A/B) and 2) deficient enzymatic activity (as measured in peripheral leukocytes, cultured fibroblasts, lymphocytes, or DBS) or presence of 2 pathogenic SMPD1 mutations,
- The patient (or patient's legal guardian) must provide signed informed consent.
- Exclusion criteria:
- Patients suspected or diagnosed with infantile onset ASMD (ie, NPD A, with progressive developmental delay, or presence of any combination of R498L, L304P, and P333fs\*52 genotypes, if available),
- Patients having received or receiving an investigational drug,
- Patients receiving any ASMD specific ERT,
- Patients with poor general condition that would not be able to undergo study assessments as per investigator's clinical judgment.
- The above information is not intended to contain all considerations relevant to a patient's potential participation in a clinical trial.
Exclusion
Key Trial Info
Start Date :
September 27 2019
Trial Type :
INTERVENTIONAL
Allocation :
ACTUAL
End Date :
May 15 2023
Estimated Enrollment :
84 Patients enrolled
Trial Details
Trial ID
NCT04106544
Start Date
September 27 2019
End Date
May 15 2023
Last Update
August 16 2023
Active Locations (28)
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1
Investigational Site Number :8400002
Atlanta, Georgia, United States, 30322
2
Investigational Site Number :8400003
The Bronx, New York, United States, 10467
3
Investigational Site Number :8400001
Valhalla, New York, United States, 10595
4
Investigational Site Number :0320002
CABA, Argentina, 1425