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Completed

NCT Number: NCT05359276

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

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

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Key information

Conditions

Acid Sphingomyelinase Deficiency (ASMD) Brain Diseases Brain Diseases, Metabolic Brain Diseases, Metabolic, Inborn Central Nervous System Diseases Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Hemic and Lymphatic Diseases Histiocytosis Histiocytosis, Non-Langerhans-Cell Lipid Metabolism Disorders Lipid Metabolism, Inborn Errors Lipidoses Lymphatic Diseases Lysosomal Storage Diseases Lysosomal Storage Diseases, Nervous System Metabolic Diseases Metabolism, Inborn Errors Nervous System Diseases Niemann-Pick Diseases Nutritional and Metabolic Diseases Sphingolipidoses

Sex eligibility

All sexes

Study type

Observational

Primary location

Investigational site in France

France

About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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.

Treatment and study plan

Olipudase alfa

Drug

GZ402665

Primary outcomes

  1. Change in pulmonary function diffusion capacity of lung for carbon monoxide (DLco)

    Time frame: From baseline to 24 months

  2. Change in spleen size

    Time frame: From baseline to 24 months

  3. Change in liver size

    Time frame: From baseline to 24 months

Secondary outcomes

  1. Baseline patient characteristics

    Time frame: 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)]

  2. Condition of olipudase alfa use

    Time frame: 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)

  3. Safety: AE

    Time frame: From baseline up to 3 years

    Number of Participants with Adverse events (AE) including infusion-associated reactions

  4. Safety: immunogenicity

    Time frame: From baseline up to 3 years

    Immune response assessments (antibodies anti-olipudase alfa IgG)

  5. Complementary effectiveness: change in pulmonary function DLco

    Time frame: From baseline to 12 months and 36 months

  6. Complementary effectiveness: change in spleen size

    Time frame: From baseline to 12 months and 36 months

  7. Complementary effectiveness: change in liver size

    Time frame: FFrom baseline to 12 months and 36 months

  8. Change in interstitial pulmonary infiltration based on lung imaging (thoracic CT-scan)

    Time frame: From baseline to 12 months and 24 months

  9. Change in platelet count

    Time frame: From baseline at 3, 6, 9, 12, 24 months and every year up to 3 years

  10. Change in biomarkers (chitotriosidase and lysosphingomyelin) plasma levels

    Time frame: From baseline at 3, 6, 9, 12 months and every year up to 3 years

  11. Change in liver function

    Time frame: 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

  12. Change in lipid profile

    Time frame: 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

  13. Change in growth curve for pediatric patient

    Time frame: From baseline at 6, 12, 24 months and every year up to 3 years

  14. Change in weight

    Time frame: From baseline to 12 months and 36 months

  15. Number of Participants with Evolution of Comorbidities

    Time frame: 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

Sponsors and collaborators

Lead sponsor

Sanofi

Industry

Registry information

Official study title

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

Acronym: OPERA

Important dates

Study start
2022
Primary completion
2024
Study completion
2024
First posted
May 3, 2022
Registry last updated
Feb 6, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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