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)

Study of Long-term Safety and Immune Response to Enzyme Therapy in Young Children With ASMD

Recruiting
2 years or below
All
Phase N/A
10 participants needed
5 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.

Study Details

This is a hybrid study design.
Patients need not travel to existing study sites in order to enroll.

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.

The purpose of this research study is to learn about the long-term safety and immune response (how the body reacts to the treatment) in children with acid sphingomyelinase deficiency (ASMD) who are receiving enzyme replacement therapy.

Participants will receive an enzyme replacement therapy as part of their usual care. The study will collect health information and may include some extra study procedures that are not part of standard care, such as testing for anti-drug antibodies (proteins the immune system can make against a medicine).

Who can participate:
Children with ASMD may be able to participate if they:

  • Have ASMD type A/B or type B and are under 2 years old when they start treatment, or have ASMD type A (any age)
  • Weigh at least 2 kg
  • Have documented ASMD based on lab testing and/or genetic testing
  • Are able to start enzyme replacement therapy or have had only their first dose, and have medical records that include clinical and laboratory information and anti-drug antibody data

Study timeline and visits:
The total study duration is 5 years. Each participant will be followed for 1 to 3 years. Participants do not need to travel to existing study sites in order to enroll.

Updated on 30 Oct 2025. Study ID: NCT06192576

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