Data Analysis of Adult and Pediatric Participants With Acid Sphingomyelinase Deficiency (ASMD) on Early Access to Olipudase Alfa in France

Recruiting

• Conditions: Acid Sphingomyelinase Deficiency (ASMD)
• Interventions: Drug: Olipudase alfa

• Registration Number: NCT05359276
• Lead Sponsor: Sanofi

Brief Summary

Primary Objective:

To describe the lung, spleen and liver outcomes of olipudase alfa

Secondary Objectives:

* To describe the patient's characteristics

* To describe conditions of olipudase alfa use

* To describe safety data related to the use of olipudase alfa

* To describe complementary effectiveness outcomes parameters

Detailed Description

Approximate duration of enrollment: 30 months

Total study duration: approximately 30 months

This is a national, multicenter observational retrospective and prospective cohort data collection study. Retrospective is defined as collection of data from all patients, including deceased patients, who were already on early access olipudase alfa in France before the start of this study.

Study Timeline

• Study First Submitted: 2022-04-28
• Study First Submitted QC: 2022-04-28
• Study First Posted: 2022-05-03
• Study Start: 2022-06-10
• Status Verified: 2024-10
• Last Update Submitted: 2024-10-22
• Last Update Posted: 2024-10-26
• Primary Completion: 2024-12-31
• Study Completion: 2024-12-31

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 55

Inclusion Criteria

• The patient, or the patient's parent(s)/guardian(s), has signed written informed consent.
• Patients with a confirmed diagnosis of ASMD under early access to olipudase alfa in France (ie, nominative compassionate use, pre marketing authorization early access, post marketing authorization early access).
• The patient has documented deficiency of acid sphingomyelinase in peripheral leukocytes, lymphocytes, or cultured fibroblasts.
• Male and female patients of all ages.

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Exclusion Criteria

• The patient or legal guardian(s) who has not received information notice or who opposes to data collection.
• Patient who died before study initiation and who was opposed to data collection for research purpose when he/she was alive.

The above information is not intended to contain all considerations relevant to a potential participation in a clinical trial.

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Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
Cohort 1	Olipudase alfa	Patients with a confirmed diagnosis of ASMD under early access to olipudase alfa in France

Primary Outcome Measures

Name	Time	Method
Change in pulmonary function diffusion capacity of lung for carbon monoxide (DLco)	From baseline to 24 months
Change in spleen size	From baseline to 24 months
Change in liver size	From baseline to 24 months

Secondary Outcome Measures

Name	Time	Method
Complementary effectiveness: change in spleen size	From baseline to 12 months and 36 months
Complementary effectiveness: change in liver size	FFrom baseline to 12 months and 36 months
Change in interstitial pulmonary infiltration based on lung imaging (thoracic CT-scan)	From baseline to 12 months and 24 months
Change in platelet count	From baseline at 3, 6, 9, 12, 24 months and every year up to 3 years
Change in biomarkers (chitotriosidase and lysosphingomyelin) plasma levels	From baseline at 3, 6, 9, 12 months and every year up to 3 years
Change in liver function	From baseline at 3, 6, 9, 12, 24 months and every year up to 3 years	Alanine transaminase (ALT), aspartate aminotransferase (AST), alkaline phosphatase (ALP), total and direct bilirubin
Change in lipid profile	From baseline at 3, 6, 9, 12, 24 months and every year up to 3 years	total cholesterol, high density lipoprotein (HDL) and low density lipoprotein (LDL) cholesterol
Change in growth curve for pediatric patient	From baseline at 6, 12, 24 months and every year up to 3 years
Change in weight	From baseline to 12 months and 36 months
Safety: immunogenicity	From baseline up to 3 years	Immune response assessments (antibodies anti-olipudase alfa IgG)
Complementary effectiveness: change in pulmonary function DLco	From baseline to 12 months and 36 months
Safety: AE	From baseline up to 3 years	Number of Participants with Adverse events (AE) including infusion-associated reactions
Baseline patient characteristics	At baseline	Demographic and baseline data \[age, gender, weight, phenotype and genotype of ASMD, acid sphingomyelinase activity in peripheral leukocytes, lymphocytes, or cultured fibroblasts, age at diagnosis, age at first symptom onset, history of splenectomy (month/year), habits (i.e., smoking, alcoholism), known metabolic conditions or diseases (obesity, diabetes, familial dyslipidemias), known respiratory diseases; known hepatic diseases; others)\]
Condition of olipudase alfa use	From baseline up to 3 years	Conditions of olipudase alfa use (time to reach maximum dose \[3 mg/kg\] or the maximum tolerated dose for the patient, center profile, treater specialty, need of a premedication before the infusion \[if yes, precise\], treatment duration \[start and end dates\], treatment discontinuation \[Yes/No\] and reason of treatment discontinuation if any)
Number of Participants with Evolution of Comorbidities	From baseline to 12 months, 24 months and 36 months	Number of participants with evolution of comorbidities will be assessed by grade, attenuation or disappearance/absence

Trial Locations

Locations (1)

Investigational site in France; 🇫🇷 France, France