NCT04106544

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

A Prospective and Retrospective Cohort Study to Refine and Expand the Knowledge on Patients With Chronic Forms of Acid Sphingomyelinase Deficiency (ASMD)

• Status: Completed
• Phase: N/A
• Study type: Interventional
• Enrollment: 84 (actual)
• Sponsor: Sanofi · Industry
• Sex: All
• Age: —
• Healthy volunteers: Not accepted

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

Detailed description

Estimated average of study duration (for each patient) is 2 years

Conditions

• Sphingomyelin Lipidosis

Interventions

Type	Name	Description
PROCEDURE	Investigational Procedures	The investigational assessments will be performed

Timeline

• Start date: 2019-09-27
• Primary completion: 2023-05-15
• Completion: 2023-05-15
• First posted: 2019-09-27
• Last updated: 2023-08-16

Locations

28 sites across 13 countries: United States, Argentina, Belgium, Brazil, Chile, Czechia, France, Germany, Italy, Portugal, Romania, Spain, Turkey (Türkiye)