A Real-world Long-term Safety and Immunogenicity Study of Olipudase Alfa Therapy in Pediatric Patients Less Than 2 Years of Age With Acid Sphingomyelinase Deficiency (ASMD)

Studying Acid Sphingomyelinase Deficiency in Children

Recruiting
2 years or below
All
Phase N/A
10 participants needed
2 Locations

Study Overview

US, multicenter, cohort, open label observational study with primary data collection. Ancillary protocol-specified procedures to address the study objectives (eg, assessment of ADA) may be considered outside the standard of care for acid sphingomyelinase deficiency (ASMD), but the study methodology remains non-interventional, as the additional collection of data from participants will not dictate treatment. The total overall study duration will be 5 years. The follow-up period will be a minimum of 1 year to a maximum of 3 years. The enrollment period will be up to 4 years, to allow a minimum of 1 year of follow-up for the last participant enrolled.

Eligibility Criteria

You may be eligible for this study if you meet the following criteria:

  • Conditions: Niemann-Pick Diseases, Acid Sphingomyelinase Deficiency
  • Age: 2 years or below
  • Gender: All

Inclusion Criteria:

  • The participant must have ASMD type A/B or B and must be <2 years of age at the time of treatment initiation, OR ASMD type A (without age restriction).
  • The participant must weigh ≥ 2 kg [The United States Prescribing Information (USPI)] for olipudase alfa specifies this minimum weight for infants receiving olipudase alfa).
  • The participant must have documented ASMD, as determined in peripheral leukocytes, cultured fibroblasts, or lymphocytes and/or by genotype determination.
  • Signed informed consent must be provided by the participant's parent(s)/legal guardian(s), including compliance with the requirements and restrictions listed in the informed consent form (ICF) and in this protocol. The signed ICF must be provided before any protocol-related procedures are performed.
  • The participant is eligible to start olipudase alfa enzyme replacement therapy or has received the first dose (and no more) of olipudase alfa, and has retrievable clinical, laboratory, and ADA data.

Exclusion Criteria:

  • The participant has received an investigational drug within 30 days or 5 drug half-lives before signature of the ICF and study enrollment.
  • The participant is not suitable for participation for reasons determined by the Investigator, including medical or clinical conditions, or potential risk of noncompliance with study procedures.
  • The participant is an immediate family member of employees of the study site or other individuals directly involved in study conduct, in conjunction with Section 1.61 of ICH-GCP Ordinance E6.

Updated on 02 Dec 2024. Study ID: NCT06192576

This study investigates acid sphingomyelinase deficiency (ASMD), a rare genetic disorder that affects the breakdown of certain fats in the body, leading to their accumulation and causing harm to various organs. The purpose of this study is to observe and collect data on participants with ASMD without altering their treatment plans. Participants will be observed for certain immune responses related to ASMD.

During the study, participants will undergo various assessments, including analysis of blood samples to check for specific enzymes and genetic markers related to ASMD. These procedures are part of the study to gather more information about the condition and its effects.

  • Who can participate: Participants must have ASMD type A/B or B and be under 2 years old, or have ASMD type A with no age limit. They must weigh at least 2 kg and have documented ASMD confirmed through specific tests. Parental consent is required.
  • Study details: Participants will take part in observational assessments, which involve collecting data without changing their treatment. A placebo is not used in this study. The study focuses on gathering information about ASMD and its effects on the body.
  • Study Timelines: The study will last 5 years.

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