Acid Sphingomyelinase Deficiency (ASMD)
Conditions
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.
Interventions
DRUGOlipudase alfa
GZ402665
Sponsors
Sanofi
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Healthy volunteers
No
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.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| 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
| Measure | Time frame | Description |
|---|---|---|
| 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 | — |
| Complementary effectiveness: change in spleen size | From baseline to 12 months and 36 months | — |
| Change in platelet count | From baseline at 3, 6, 9, 12, 24 months and every year up to 3 years | — |
| 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 | — |
| Baseline patient characteristics | At baseline | Demographic and baseline data \[age, gender, weight, phenotype and genotype of ASMD, acid sphingomyelinase activity in peripheral leukocytes, lymphocytes, or cultured fibroblasts, age at diagnosis, age at first symptom onset, history of splenectomy (month/year), habits (i.e., smoking, alcoholism), known metabolic conditions or diseases (obesity, diabetes, familial dyslipidemias), known respiratory diseases; known hepatic diseases; others)\] |
| 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 | — |
| 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 |
| Change in biomarkers (chitotriosidase and lysosphingomyelin) plasma levels | From baseline at 3, 6, 9, 12 months and every year up to 3 years | — |
| 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) |
| Safety: AE | From baseline up to 3 years | Number of Participants with Adverse events (AE) including infusion-associated reactions |
Countries
France
Outcome results
None listed