MPS II Immunophenotyping

NCT04976231 | Terminated

• 1 other identifier: Pro00108243
• Study Type: observational
• Target: 6
• Locations: 1 country
• Sites: 1

Brief Summary

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.

Conditions

MPS II; Mucopolysaccharidosis II; Hunter Syndrome

Keywords

MPS II; Mucopolysaccharidosis II; Hunter Syndrome

Outcome Measures

Primary Outcomes (4)

• 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

Study Arms (3)

Treatment Naive

Subjects who are naïve to ERT and start treatment with idursulfase

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

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Metabolic or Genetics Clinic patients

You may qualify if:

• 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.

You may not qualify if:

• None

Sponsors & Collaborators

• Duke University: lead

Study Sites (1)

Duke University

Durham, North Carolina, 27710, United States

Location

Biospecimen

Retention: SAMPLES WITH DNA

blood samples

MeSH Terms

Conditions

Sudden Infant Death; Mucopolysaccharidosis II

Condition Hierarchy (Ancestors)

Death, Sudden; Death; Pathologic Processes; Pathological Conditions, Signs and Symptoms; Infant Death; X-Linked Intellectual Disability; Intellectual Disability; Neurobehavioral Manifestations; Neurologic Manifestations; Nervous System Diseases; Genetic Diseases, X-Linked; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Heredodegenerative Disorders, Nervous System; Mucopolysaccharidoses; Carbohydrate Metabolism, Inborn Errors; Metabolism, Inborn Errors; Lysosomal Storage Diseases; Mucinoses; Connective Tissue Diseases; Skin and Connective Tissue Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases

Study Officials

• Priya Kishnani, MD

  Duke University

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: July 19, 2021
• First Posted: July 26, 2021
• Study Start: April 1, 2022
• Primary Completion: April 26, 2024
• Study Completion: April 26, 2024
• Last Updated: September 19, 2024

Record last verified: 2024-04

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)