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

Sphingomyelin Lipidosis Clinical Trial

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

Status Completed

Clinical Trial 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

Clinical Trial Description

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

Related Conditions & MeSH terms

• Niemann-Pick Disease, Type C
• Niemann-Pick Diseases
• Sphingomyelin Lipidosis

• NCT number: NCT04106544
• Study type: Interventional
• Source: Sanofi
• Status: Completed
• Phase: N/A
• Start date: September 27, 2019
• Completion date: May 15, 2023