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Mucopolysaccharidosis Type II Natural History

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ClinicalTrials.gov Identifier: NCT03529786
Recruitment Status : Recruiting
First Posted : May 18, 2018
Last Update Posted : November 14, 2018
Sponsor:
Information provided by (Responsible Party):
Regenxbio Inc.

Brief Summary:

Mucopolysaccharidosis type II (MPS II), also known as Hunter syndrome, is caused by a deficiency of iduronate-2-sulfatase (IDS) leading to an accumulation of glycosaminoglycans (GAGs) in tissues of MPS II patients, resulting in characteristic storage lesions and diverse disease sequelae, and in patients with the more severe form of the disease, irreversible neurocognitive decline and higher morbidity and mortality than in patients with the attenuated form of the disease.

There is currently limited information on the natural history of MPS II, especially with respect to neurocognitive decline in patients with the more severe form of the disease. This study is planned to be an observational medical records review study (data collected retrospectively and no investigational product treatment or procedures) in subjects with the severe form of MPS II. Collectively, the data may inform the design of future MPS II gene therapy treatment studies and may be utilized as historical comparative control data.


Condition or disease
Mucopolysaccharidosis II

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Study Type : Observational
Estimated Enrollment : 100 participants
Observational Model: Other
Time Perspective: Other
Official Title: A Retrospective and Cross-sectional Study to Evaluate Neurodevelopmental Status in Pediatric Subjects With Severe Mucopolysaccharidosis Type II (Hunter Syndrome)
Actual Study Start Date : September 27, 2017
Estimated Primary Completion Date : December 2018
Estimated Study Completion Date : December 2018


Group/Cohort
Retrospective
An observational medical records review study (data collected retrospectively) in subjects with the severe form of MPS II.



Primary Outcome Measures :
  1. Cognitive function over time, as indicated by results of neurocognitive measures documented in medical chart. [ Time Frame: Up to 10 years old ]
    There are 10 neurocognitive measures that provide intelligence quotients (IQ) scores and/or developmental quotients (DQ) scores.


Secondary Outcome Measures :
  1. Prevalence of general organ involvement and specific characteristics of severe MPS II as documented in medical chart. [ Time Frame: Up to 10 years old ]

    Documentation in medical chart regarding date and age of onset of:

    Disease Characteristics, General Appearance, Neurologic/Psychiatric, Cardiovascular, Ocular, Musculoskeletal, Auditory, Respiratory, Gastroenterology/Urinary, Interventional Medications, Other Interventions, ER and Hospitalization History, MRI History, ECG History


  2. Age of onset of general organ involvement and specific characteristics of severe MPS II as documented in medical chart. [ Time Frame: Up to 10 years old ]

    Documentation in medical chart regarding date and age of onset of:

    Disease Characteristics, General Appearance, Neurologic/Psychiatric, Cardiovascular, Ocular, Musculoskeletal, Auditory, Respiratory, Gastroenterology/Urinary, Interventional Medications, Other Interventions, ER and Hospitalization History, MRI History, ECG History




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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   Male
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Children diagnosed with Mucopolysaccharidosis type II (MPS II), also known as Hunter syndrome
Criteria

Inclusion Criteria:

  1. Documented diagnosis of MPS II confirmed by enzyme activity as measured in plasma, fibroblasts, or leukocytes
  2. The subject has at least one of the neurocognitive assessments listed below, which occurred prior to age 6 and in or after 2006 in their medical records.

    1. Bayley Scales of Infant and Toddler Development (BSID), any version
    2. Differential Ability Scale (DAS), any version
    3. Griffiths Mental Development Scale (GMDS), any version
    4. Kaufman Assessment Battery for Children (KABC), any version
    5. Kinder Infant Development Scale (KIDS)
    6. Kyoto Scale of Psychological Development (KSPD), any version
    7. Leiter International Performance Scale (LIPS), any version
    8. Mullen Scales of Early Learning (MSEL), any version
    9. Vineland Adaptive Behavior Scales (VABS), any version
    10. Wechsler Intelligence Scale for Children (WISC), any version
    11. Wechsler Preschool and Primary Scale of Intelligence (WPPSI), any version
  3. If the subject has undergone hematopoietic stem cell transplantation (HSCT), they must have at least one neurocognitive assessment prior to HSCT.

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): NCT03529786


Contacts
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Contact: Vivian Fernandez 1-866-860-0117 patientadvocacy@regenxbio.com

Locations
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United States, Pennsylvania
Children's Hospital of Pittsburgh - UPMC: Program for Neurodevelopment in Rare Disorders Recruiting
Pittsburgh, Pennsylvania, United States, 15224
Contact: Jodi Martin    412-692-6351    sausjl@upmc.edu   
Principal Investigator: Maria Escolar, MD         
Brazil
Hospital de Clinicas de Porto Alegre Recruiting
Porto Alegre, RS, Brazil, 90035-903
Contact: Claudia Vanzella       cvanzella@gmail.com   
Principal Investigator: Roberto Giugliani, MD, PhD         
United Kingdom
Manchester Centre for Genomic Medicine Recruiting
Manchester, United Kingdom
Contact: Laura Crowther       laura.crowther@mft.nhs.uk   
Principal Investigator: Simon Jones, MBChB         
Sponsors and Collaborators
Regenxbio Inc.

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Responsible Party: Regenxbio Inc.
ClinicalTrials.gov Identifier: NCT03529786     History of Changes
Other Study ID Numbers: RGX-121-002
First Posted: May 18, 2018    Key Record Dates
Last Update Posted: November 14, 2018
Last Verified: November 2018
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Undecided

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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 Regenxbio Inc.:
Hunter Syndrome
Natural History
Iduronate-2-sulfatase
glycosaminoglycans

Additional relevant MeSH terms:
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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