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A Prospective and Retrospective Cohort Study in Patients With Chronic Forms of Acid Sphingomyelinase Deficiency (ASMD)

NCT04106544 · Status: COMPLETED · Phase: NA · Type: INTERVENTIONAL · Enrollment: 84

Last updated 2023-08-16

No results posted yet for this study

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 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

Conditions

  • Sphingomyelin Lipidosis

Interventions

PROCEDURE

Investigational Procedures

The investigational assessments will be performed

Sponsors & Collaborators

Principal Investigators

  • Clinical Sciences & Operations · Sanofi

Study Design

Allocation
NA
Purpose
OTHER
Masking
NONE
Model
SINGLE_GROUP

Eligibility

Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2019-09-27
Primary Completion
2023-05-15
Completion
2023-05-15

Countries

  • United States
  • Argentina
  • Belgium
  • Brazil
  • Chile
  • Czechia
  • France
  • Germany
  • Italy
  • Portugal
  • Romania
  • Spain
  • Turkey (Türkiye)

Study Locations

More Related Trials

Entities

Companies

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT04106544 on ClinicalTrials.gov