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A Study of Potential Treatment-Responsive Biomarkers in Hunter Syndrome

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ClinicalTrials.gov Identifier: NCT04007536
Recruitment Status : Recruiting
First Posted : July 5, 2019
Last Update Posted : March 22, 2021
Sponsor:
Information provided by (Responsible Party):
Denali Therapeutics Inc.

Brief Summary:
This is an observational, Pre-phase 1 study of biomarkers in patients with mucopolysaccharidosis type II (MPS II), also known as Hunter syndrome.

Condition or disease Intervention/treatment
Hunter Syndrome Other: No Intervention

Detailed Description:
This is a 2-part, prospective, multicenter, observational study of patients with MPS II to characterize disease-related biomarkers in urine, blood and cerebrospinal fluid (CSF). Part 1 will include MPS II patients who are 2 -10 years and Part 2 will include MPS II patients who are 2 -30 years old at the time of enrollment. All patients may be on approved therapies for MPS II; no investigational treatment will be administered.

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Study Type : Observational
Estimated Enrollment : 28 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: A Study of Potential Treatment-Responsive Biomarkers in Hunter Syndrome
Actual Study Start Date : October 23, 2019
Estimated Primary Completion Date : February 2024
Estimated Study Completion Date : February 2024


Group/Cohort Intervention/treatment
Part 1
Patients from 2 through 10 years of age who have MPS II. Clinical, neurocognitive, laboratory, and biomarker assessments will be conducted.
Other: No Intervention
No Intervention

Part 2
Patients from 2 through 30 years of age who have MPS II will be enrolled; Part 2 will entail a single collection of CSF, urine, and blood. Clinical assessments are optional in Part 2.
Other: No Intervention
No Intervention




Primary Outcome Measures :
  1. Glycosaminoglycan (GAG) levels, including within-patient and between-patient variability of GAG levels, in serum and urine of MPS II patients [ Time Frame: Up to 18 months ]

Secondary Outcome Measures :
  1. GAG levels in the cerebrospinal fluid (CSF) of MPS II patients [ Time Frame: Up to 18 months ]
  2. Exploratory biomarkers, such as neurofilament light chain, lysosomal lipids/proteins, and cytokines, in patient CSF, urine, and/or blood [ Time Frame: Up to 18 months ]
  3. Neurodevelopmental parameters of cognitive function over time in pediatric patients with MPS II [ Time Frame: Up to 18 months ]
    Neurodevelopmental parameters of cognitive function using Bayley Scales of Infant and Toddler Development, 3rd Edition or Kaufman Assessment Battery for Children, 2nd Edition over time in pediatric patients with MPS II.

  4. Neurodevelopmental parameters of adaptive function over time in pediatric patients with MPS II as measured by Vineland Adaptive Behavior Scales, 2nd Edition (VABS-II) [ Time Frame: Up to 18 months ]
  5. Quality of Life parameters over time in patients with MPS II [ Time Frame: Up to 18 months ]
    Quality of Life parameters over time in patients with MPS II as measured by Child Health Questionnaire- Parent Form 28 (CHQ-PF28) or the Infant and Toddler Quality of Life (ITQOL) scale.

  6. Quality of Life parameters over time in family members of patients with MPS II [ Time Frame: Up to 18 months ]
    Quality of Life parameters in family members of patients with MPS II over time as measured by Pediatric Quality of Life Inventory Family Impact Module (PedsQL-FIM)

  7. Adverse events related to study procedures [ Time Frame: Up to 18 months ]

Biospecimen Retention:   Samples With DNA
Whole blood, serum, cerebrospinal fluid


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Ages Eligible for Study:   2 Years to 30 Years   (Child, Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Patients aged 2 through 30 years with a confirmed diagnosis of MPS II based on IDS (iduronate 2-sulfatase) enzyme activity and documented mutation in the IDS gene
Criteria

Key Eligibility Criteria (Part 1):

  • Patients aged 2 through 10 years with a confirmed diagnosis of MPS II based on iduronate 2-sulfatase (IDS) enzyme activity and documented mutation in the IDS gene
  • Neuronopathic MPS II (nMPS II) subgroup: patients with a development quotient (DQ) <85 and/or a decline of at least 7.5 points in DQ, assessed at least 6 months apart, or with the same genetic mutation as a blood relative with confirmed nMPS II

Key Eligibility Criteria (Part 2):

  • Patients aged 2 through 30 years with a confirmed diagnosis of MPS II based on IDS enzyme activity and documented mutation in the IDS gene
  • Neuronopathic MPS II subgroup: patients with an age-adjusted DQ <85 and/or a decline of 10 points or more in DQ in the previous 6 months or more, or with the same genetic mutation as a blood relative with confirmed nMPS II
  • Scheduled to undergo general anesthesia or CSF sampling for non-study-related medical reasons and parent(s)/legally authorized representative consent to donate CSF for research purposes during that procedure, or an adult patient is able to provide consent and agrees to participation in the study for CSF collection/donation
  • No unstable medical conditions

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT04007536


Locations
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United States, California
UCSF Benioff Children's Hospital Recruiting
Oakland, California, United States, 94609
Contact: Huong Phan    510-428-3885 ext 5917    huong.phan@ucsf.edu   
Contact       paul.harmatz@ucsf.edu   
Principal Investigator: Paul Harmatz, MD         
United States, North Carolina
UNC Children's Research Institue Recruiting
Chapel Hill, North Carolina, United States, 27514
Contact: Chen Zhu    919-966-1447    czhu@email.unc.edu   
Contact       muenzer@med.unc.edu   
Principal Investigator: Joseph Muenzer, MD         
United States, Pennsylvania
UPMC | Children's Hospital of Pittsburgh Recruiting
Pittsburgh, Pennsylvania, United States, 15224
Contact: Alyssa Aburachis    412-692-6340    alyssa.aburachis@chp.edu   
Contact       maria.escolar@chp.edu   
Principal Investigator: Maria Escolar, MD         
Germany
UKGM Zentrum fur Kinderheilkune/Kinderneurologie Recruiting
Giessen, Germany, 35392
Contact: Christina Lampe    (+49) 641-985-43543    christina.lampe@paediat.med.uni-giessen.de   
Italy
Center for Rare Diseases, Udine University Hospital Recruiting
Udine, Italy, 33100
Contact: Serena Vanlent    +393386265576    serena.valent@asufc.sanita.fvg.it   
Principal Investigator: Maurizio Scarpa, MD         
Netherlands
Erasmus Medical Center Recruiting
Rotterdam, South Holland, Netherlands, 3015 GD
Contact: Jacqueline Hardon    0031-6-14773712    j.hardon@erasmusmc.nl   
Principal Investigator: Dr. Van der Ploeg         
United Kingdom
Manchester Centre for Genomic Medicine Recruiting
Manchester, United Kingdom, M13 9WL
Contact: Simon Jones    0161 7012137    Simon.Jones@mft.nhs.uk   
Sponsors and Collaborators
Denali Therapeutics Inc.
Investigators
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Study Director: Anna Bakardjiev, MD Denali Therapeutics
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Responsible Party: Denali Therapeutics Inc.
ClinicalTrials.gov Identifier: NCT04007536    
Other Study ID Numbers: DNLI-E-0001
First Posted: July 5, 2019    Key Record Dates
Last Update Posted: March 22, 2021
Last Verified: March 2021
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by Denali Therapeutics Inc.:
MPS-II
Mucopolysaccharidosis-II
Lysosomal Storage Disease
Additional relevant MeSH terms:
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Mucopolysaccharidosis II
Syndrome
Disease
Pathologic Processes
Mental Retardation, X-Linked
Intellectual Disability
Neurobehavioral Manifestations
Neurologic Manifestations
Nervous System Diseases
Genetic Diseases, X-Linked
Genetic Diseases, Inborn
Heredodegenerative Disorders, Nervous System
Mucopolysaccharidoses
Carbohydrate Metabolism, Inborn Errors
Metabolism, Inborn Errors
Lysosomal Storage Diseases
Mucinoses
Connective Tissue Diseases
Metabolic Diseases