Clinical trial NCT05359276: Data Analysis of Adult and Pediatric Participants With Acid Sphingomyelinase Deficiency (ASMD) on Early Access to Olipudase Alfa in France
Official title: Acid Sphingomyelinase Deficiency (ASMD): Data Analysis of Adult and Pediatric Patients on Early Access to Olipudase Alfa in France
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Acid Sphingomyelinase Deficiency (ASMD)
Lead sponsor: Sanofi
Sponsor class: INDUSTRY
First posted: 2022-05-03
Enrollment: 40
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: All patients with a confirmed diagnosis of ASMD under early access to olipudase alfa in France (with a written informed consent)

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.

Eligibility criteria: 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.

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.

Primary outcomes:
measure: Change in pulmonary function diffusion capacity of lung for carbon monoxide (DLco)
timeFrame: From baseline to 24 months
measure: Change in spleen size
timeFrame: From baseline to 24 months
measure: Change in liver size
timeFrame: From baseline to 24 months
Secondary outcomes:
measure: Baseline patient characteristics
timeFrame: At baseline
measure: Condition of olipudase alfa use
timeFrame: From baseline up to 3 years
measure: Safety: AE
timeFrame: From baseline up to 3 years
measure: Safety: immunogenicity
timeFrame: From baseline up to 3 years
measure: Complementary effectiveness: change in pulmonary function DLco
timeFrame: From baseline to 12 months and 36 months
measure: Complementary effectiveness: change in spleen size
timeFrame: From baseline to 12 months and 36 months
measure: Complementary effectiveness: change in liver size
timeFrame: FFrom baseline to 12 months and 36 months
measure: Change in interstitial pulmonary infiltration based on lung imaging (thoracic CT-scan)
timeFrame: From baseline to 12 months and 24 months
measure: Change in platelet count
timeFrame: From baseline at 3, 6, 9, 12, 24 months and every year up to 3 years
measure: Change in biomarkers (chitotriosidase and lysosphingomyelin) plasma levels
timeFrame: From baseline at 3, 6, 9, 12 months and every year up to 3 years
measure: Change in liver function
timeFrame: From baseline at 3, 6, 9, 12, 24 months and every year up to 3 years
measure: Change in lipid profile
timeFrame: From baseline at 3, 6, 9, 12, 24 months and every year up to 3 years
measure: Change in growth curve for pediatric patient
timeFrame: From baseline at 6, 12, 24 months and every year up to 3 years
measure: Change in weight
timeFrame: From baseline to 12 months and 36 months
measure: Number of Participants with Evolution of Comorbidities
timeFrame: From baseline to 12 months, 24 months and 36 months
Other outcomes:
Locations:
city: France
country: France
facility: Investigational site in France
Study officials:
affiliation: Sanofi
name: Clinical Sciences & Operations
role: STUDY_DIRECTOR
References: