A Study of Potential Treatment-Responsive Biomarkers and Clinical Outcomes in Hunter Syndrome
|
The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details. |
| ClinicalTrials.gov Identifier: NCT04007536 |
|
Recruitment Status :
Recruiting
First Posted : July 5, 2019
Last Update Posted : April 20, 2022
|
Sponsor:
Denali Therapeutics Inc.
Information provided by (Responsible Party):
Denali Therapeutics Inc.
- Study Details
- Tabular View
- No Results Posted
- Disclaimer
- How to Read a Study Record
Brief Summary:
This is a four-part prospective, multicenter, multiregional observational study of patients with mucopolysaccharidosis type II (MPS II), also known as Hunter syndrome, to assess biomarkers potentially related to disease severity and/or treatment response and prospectively assess the progression of disease in participants with MPS II who are aged 2 through 10 years (Part 1), 2 through 30 years (Part 2), < 8 years (Part 3), and 6 to < 17 years (Part 4) at the time of enrollment.
| Condition or disease | Intervention/treatment |
|---|---|
| Mucopolysaccharidosis II | Other: No Intervention |
This clinical trial information was submitted voluntarily under the applicable law and, therefore, certain submission deadlines may not apply. (That is, clinical trial information for this applicable clinical trial was submitted under section 402(j)(4)(A) of the Public Health Service Act and 42 CFR 11.60 and is not subject to the deadlines established by sections 402(j)(2) and (3) of the Public Health Service Act or 42 CFR 11.24 and 11.44.).
| Study Type : | Observational |
| Estimated Enrollment : | 37 participants |
| Observational Model: | Cohort |
| Time Perspective: | Prospective |
| Official Title: | A Prospective, Longitudinal Study of Potential Treatment-Responsive Biomarkers and Clinical Outcomes in Hunter Syndrome |
| Actual Study Start Date : | October 23, 2019 |
| Estimated Primary Completion Date : | February 2024 |
| Estimated Study Completion Date : | February 2024 |
Resource links provided by the National Library of Medicine
MedlinePlus Genetics related topics:
Mucopolysaccharidosis type II
| Group/Cohort | Intervention/treatment |
|---|---|
|
Part 1
Participants 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
Participants from 2 through 30 years of age who have MPS II; Part 2 will entail a single collection of cerebrospinal fluid (CSF), urine, and blood. Clinical assessments are optional in Part 2.
|
Other: No Intervention
No Intervention |
|
Part 3
Participants <8 years of age who have the neuronopathic form of mucopolysaccharidosis type II (nMPS II). Clinical, neurocognitive, laboratory, and biomarker assessments will be conducted.
|
Other: No Intervention
No Intervention |
|
Part 4
Participants 6 to 17 years of age with the non-neuronopathic form of mucopolysaccharidosis type II (nnMPS II). Clinical, neurocognitive, laboratory, and biomarker assessments will be conducted.
|
Other: No Intervention
No Intervention |
Primary Outcome Measures :
- Changes in adaptive behavior over time as measured by Vineland Adaptive Behavior Scales, Second Edition (VABS II) and/or Vineland Adaptive Behavior Scales, Third Edition (Vineland-3) [ Time Frame: Up to 96 weeks ]
- Changes in neurocognition over time as measured by Bayley Scales of Infant and Toddler Development, 3rd Edition; Kaufman Assessment Battery for Children, 2nd Edition; or Wechsler Intelligence Scale for Children, Fifth Edition [ Time Frame: Up to 96 weeks ]
- Changes in levels of total urine glycosaminoglycans (GAGs), levels of heparan sulfate (HS) and dermatan sulfate (DS) in cerebrospinal fluid (CSF), urine and/or blood [ Time Frame: up to 96 weeks ]
Biospecimen Retention: Samples With DNA
Whole blood, serum, cerebrospinal fluid
Information from the National Library of Medicine
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.
| Ages Eligible for Study: | up to 30 Years (Child, Adult) |
| Sexes Eligible for Study: | All |
| Accepts Healthy Volunteers: | No |
| Sampling Method: | Non-Probability Sample |
Study Population
Patients ≤ 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 Inclusion Criteria (Part 1):
- Participants aged 2 through 10 years
- nMPS II subgroup: participants 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 Inclusion Criteria (Part 2):
- Participants aged 2 through 30 years
- nMPS 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
Key Inclusion Criteria (Part 3):
- nMPS II participants aged <8 years
Key Inclusion Criteria (Part 4):
- nnMPS II participants aged 6 to 17 years
Key Exclusion Criteria (All Parts):
- Have unstable medical condition that would make participation in the study unsafe or would interfere with necessary medical care
- Have received any central nervous system (CNS)-targeted MPS II investigational therapy within the previous 6 months
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
| United States, California | |
| UCSF Benioff Children's Hospital | Recruiting |
| Oakland, California, United States, 94609 | |
| Contact: Danielle Roth 510-428-3885 ext 4785 Danielle.Roth@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: Dawn Kolar 412-692-8343 kolardr@upmc.edu | |
| Contact rajands@upmc.edu | |
| Principal Investigator: Deepa Soundara Rajan, MD | |
| 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 Email: j.hardon@erasmusmc.nl | |
| Contact: Dorine Heemskerk Email: t.heemskerk@erasmusmc.nl | |
| Principal Investigator: Hannerieke van den Hout, MD | |
| United Kingdom | |
| Birmingham Children's Hospital | Recruiting |
| Birmingham, United Kingdom, B4 6NH | |
| Contact: Shashi Watson +4401213339954 shashi.rana@nhs.net | |
| Principal Investigator: Julian Raiman, MD | |
| 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
| Study Director: | Anna Bakardjiev, MD | Denali Therapeutics |
| 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: | April 20, 2022 |
| Last Verified: | April 2022 |
| Individual Participant Data (IPD) Sharing Statement: | |
| Plan to Share IPD: | No |
| 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 Hunter Syndrome Lysosomal Storage Disease nMPS II nnMPS II |
Additional relevant MeSH terms:
|
Mucopolysaccharidosis II Mucopolysaccharidoses Carbohydrate Metabolism, Inborn Errors Metabolism, Inborn Errors Genetic Diseases, Inborn Lysosomal Storage Diseases Mucinoses Connective Tissue Diseases |
Metabolic Diseases Mental Retardation, X-Linked Intellectual Disability Neurobehavioral Manifestations Neurologic Manifestations Nervous System Diseases Genetic Diseases, X-Linked Heredodegenerative Disorders, Nervous System |