MPS II Immunophenotyping

Immunophenotyping of Patients With MPS II Treated With Enzyme Replacement Therapy

The purpose of this study is to investigate how participant's body's immune system responds to idursulfase, an enzyme replacement therapy (ERT) and find out which types of immune cells are involved in causing untoward responses to the ERT so that the investigators can relate the level of immune response to the treatment.

Study Overview

• Status: Recruiting
• Conditions: Mucopolysaccharidosis II; Hunter Syndrome; MPS II

• Study Type: Observational
• Enrollment (Estimated): 25

Contacts and Locations

• Study Contact: Name: Grace Stafford, BS; Phone Number: 919-668-1347; Email: grace.stafford@duke.edu
• Study Contact Backup: Name: Eleanor Rodriguez-Rassi, MPH; Phone Number: 919 613-1219; Email: eleanor.rodriguezrassi@duke.edu

Study Locations

• United States
  • North Carolina
    • Durham, North Carolina, United States, 27710
      • Recruiting
      • Duke University
      • Contact: Eleanor Rodriguez-Rassi, MPH; Phone Number: 919-613-1219; Email: eleanor.rodriguezrassi@duke.edu
      • Contact: Grace Stafford, BS; Phone Number: 919-668-1347; Email: grace.stafford@duke.edu
      • Principal Investigator: Priya Kishnani, MD

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

Metabolic or Genetics Clinic patients

Description

Inclusion Criteria:

• Subject has a confirmed diagnosis of Mucopolysaccharidosis type II (MPS II) or Hunter Syndrome based on enzyme activity and variant analysis.
• Subject who plan to receive or have received enzyme replacement therapy with idursulfase.

Exclusion Criteria:

• None

Study Plan

How is the study designed?

Design Details

• Observational Models: Cohort
• Time Perspectives: Prospective

Number of groups / cohorts

3

Cohorts and Interventions

Group / Cohort
Treatment less than 3 years; Subjects who have received ERT for <3 years
Treatment over 3 years; Subjects who have received ERT for 3 or more years
Treatment Naive; Subjects who are naïve to ERT and start treatment with idursulfase

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Time Frame
Changes in the frequency of natural killer cells measured by flow cytometry	baseline, 1, 3, 6 months
Changes in level of circulation memory B cells measured by flow cytometry	baseline, 1, 3, 6 months
Changes in level of T follicular helper cells measured by flow cytometry	baseline, 1, 3, 6 months
Changes in distribution of helper T cells measured by flow cytometry	baseline, 1, 3, 6 months

Collaborators and Investigators

• Sponsor: Duke University
• Investigators: Principal Investigator: Priya Kishnani, MD, Duke University

Study record dates

Study Major Dates

• Study Start (Actual): April 1, 2022
• Primary Completion (Estimated): April 1, 2025
• Study Completion (Estimated): April 1, 2025

Study Registration Dates

• First Submitted: July 19, 2021
• First Submitted That Met QC Criteria: July 19, 2021
• First Posted (Actual): July 26, 2021

Study Record Updates

• Last Update Posted (Actual): April 22, 2024
• Last Update Submitted That Met QC Criteria: April 19, 2024
• Last Verified: April 1, 2024

More Information

Terms related to this study

• Keywords: Mucopolysaccharidosis II; Hunter Syndrome; MPS II
• Additional Relevant MeSH Terms: Metabolic Diseases; Nervous System Diseases; Neurologic Manifestations; Neurobehavioral Manifestations; Genetic Diseases, Inborn; Genetic Diseases, X-Linked; Connective Tissue Diseases; Carbohydrate Metabolism, Inborn Errors; Metabolism, Inborn Errors; Lysosomal Storage Diseases; Mucinoses; Mental Retardation, X-Linked; Intellectual Disability; Heredodegenerative Disorders, Nervous System; Mucopolysaccharidosis II; Mucopolysaccharidoses
• Other Study ID Numbers: Pro00108243

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No