NCT04591834

Brief Summary

This is an observational study planned to document prospectively disease manifestation and neurocognitive course in pediatric patients with a clinical presentation consistent with neuronopathic ("severe") MPS II undergoing current standard of care and/or intrathecal Elaprase® for their condition. Some patients may be offered the opportunity to screen for a gene therapy study conducted by the same sponsor.

Trial Health

33
At Risk

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Trial has exceeded expected completion date
Timeline
Completed

Started Mar 2022

Typical duration for all trials

Geographic Reach
2 countries

3 active sites

Status
withdrawn

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

First Submitted

Initial submission to the registry

September 23, 2020

Completed
26 days until next milestone

First Posted

Study publicly available on registry

October 19, 2020

Completed
1.4 years until next milestone

Study Start

First participant enrolled

March 1, 2022

Completed
3.3 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

July 1, 2025

Completed
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

July 1, 2025

Completed
Last Updated

October 10, 2022

Status Verified

October 1, 2022

Enrollment Period

3.3 years

First QC Date

September 23, 2020

Last Update Submit

October 6, 2022

Conditions

Mucopolysaccharidosis II

Keywords

MPS IIGene TherapyHunter

Outcome Measures

Primary Outcomes (3)

  • Changes in neurodevelopmental parameters of cognitive function over time

    Bayley Scales of Infant and Toddler Development Third Edition (BSID-III)

    104 weeks

  • Changes in neurodevelopmental parameters of cognitive function over time

    Mullen Scales of Early Learning (MSEL) Visual Reception Domain

    104 weeks

  • Changes in neurodevelopmental parameters of adaptive behavior function over time

    Vineland Adaptive Behavior Scales Second Edition (VABS-II)

    104 weeks

Secondary Outcomes (6)

  • Changes in disease-specific biomarkers over time

    104 weeks

  • Changes in disease-specific biomarkers over time

    104 weeks

  • Changes in quality of life

    104 weeks

  • Changes in quality of life

    104 weeks

  • Changes in Caregiver reported outcome

    104 weeks

  • +1 more secondary outcomes

Study Arms (1)

Observational

No Intervention

Other: Observational

Interventions

ObservationalOTHER

An observational study in subjects with the severe form of MPS II.

Observational

Eligibility Criteria

Age1 Month - 8 Years
Sexmale
Healthy VolunteersNo
Age GroupsChild (0-17)
Sampling MethodNon-Probability Sample
Study Population

Up to 40 subjects ages 1 month to 8 years of age who have documented neurocognitive deficits due to MPS II or who have a genotype and family history consistent with an inherited form of severe MPS II will be invited to participate.

You may qualify if:

  • Meets any of the following criteria:
  • Has a clinical diagnosis of severe MPS II and has a documented mutation in IDS, OR
  • Has a relative clinically diagnosed with severe MPS II who has the same IDS mutation as the subject, OR
  • Has documented mutation(s) in IDS that in the opinion of the investigator is known to result in a neuronopathic phenotype
  • Has sufficient communication capacity to complete the required protocol testing
  • Patient's legal guardian must be willing and able to provide written, signed informed consent.

You may not qualify if:

  • Has had prior treatment with an AAV-based gene therapy product
  • Is currently participating in a clinical trial of an investigational product for the treatment of MPS II with the exception of IT ELAPRASE trials; no investigational product may be taken starting 30 days or 5 half-lives of the investigational product prior to signing the ICF, whichever is longer

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (3)

University of California San Francisco, Benioff Children's Hospital

Oakland, California, 94609, United States

Location

Children's Hospital of Philadelphia

Philadelphia, Pennsylvania, 19104, United States

Location

McGill University Health Center

Montreal, Quebec, H4A 3J1, Canada

Location

MeSH Terms

Conditions

Mucopolysaccharidosis IISudden Infant Death

Interventions

Watchful Waiting

Condition Hierarchy (Ancestors)

X-Linked Intellectual DisabilityIntellectual DisabilityNeurobehavioral ManifestationsNeurologic ManifestationsNervous System DiseasesGenetic Diseases, X-LinkedGenetic Diseases, InbornCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesHeredodegenerative Disorders, Nervous SystemMucopolysaccharidosesCarbohydrate Metabolism, Inborn ErrorsMetabolism, Inborn ErrorsLysosomal Storage DiseasesMucinosesConnective Tissue DiseasesSkin and Connective Tissue DiseasesMetabolic DiseasesNutritional and Metabolic DiseasesDeath, SuddenDeathPathologic ProcessesPathological Conditions, Signs and SymptomsInfant Death

Intervention Hierarchy (Ancestors)

Outcome Assessment, Health CareOutcome and Process Assessment, Health CareQuality of Health CareHealth Services Administration
0

Study Design

Study Type
observational
Observational Model
OTHER
Time Perspective
PROSPECTIVE
Sponsor Type
INDUSTRY
Responsible Party
SPONSOR

Study Record Dates

First Submitted

September 23, 2020

First Posted

October 19, 2020

Study Start

March 1, 2022

Primary Completion

July 1, 2025

Study Completion

July 1, 2025

Last Updated

October 10, 2022

Record last verified: 2022-10

Locations

US(2)CA(1)