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Completed

NCT Number: NCT03292887

Hunter Outcome Survey (HOS)

The purpose of this study is to collect data that will increase understanding of Hunter syndrome. The data from HOS may provide guidance to healthcare professionals about disease treatment options.

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Key information

Conditions

Hunter Syndrome Carbohydrate Metabolism, Inborn Errors Congenital, Hereditary, and Neonatal Diseases and Abnormalities Connective Tissue Diseases Genetic Diseases, Inborn Genetic Diseases, X-Linked Heredodegenerative Disorders, Nervous System Intellectual Disability Lysosomal Storage Diseases Metabolic Diseases Metabolism, Inborn Errors Mucinoses Mucopolysaccharidoses Mucopolysaccharidosis II Nervous System Diseases Neurobehavioral Manifestations Neurologic Manifestations Nutritional and Metabolic Diseases Skin and Connective Tissue Diseases X-Linked Intellectual Disability

Sex eligibility

All sexes

Study type

Observational

Primary location

Shire

Lexington, Massachusetts, 02421, United States

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

  • Diagnosis of Hunter syndrome (biochemically and/or genetically)
  • Signed and dated written informed consent, as per either a or b below:
  • Prospective Participants: Signed and dated written informed consent from the participant or, for participants aged less than (<) 18 years (<16 years in Scotland), parent and/or participant's legally authorized representative (LAR), and assent of the minor where applicable.

informed consent must be obtained from LARs for cognitively impaired participants, where applicable.

OR

  • Historical Participants: Signed and dated informed consent from the participant's LAR (where allowed by relevant individual country or site regulations/laws). .

Exclusion criteria

  • Participants enrolled in an interventional clinical trial are not eligible. Participants may re-enroll once they have completed or withdrawn from the other clinical study.
  • Participants receiving treatment for Hunter syndrome with an ERT product other than Elaprase are not eligible. Participants may enroll or re-enroll once they have stopped treatment with another ERT.

Treatment and study plan

Primary outcomes

  1. Number of Participants With Infusion-related Reactions (IRRs)

    Time frame: Baseline to year 17

    An Infusion-related reaction (IRR) is an adverse event (AE) that occurs during or within 24 hours of an infusion and with evidence of a causal relationship with Elaprase.

  2. Number of Participants With Adverse Events (AEs) and Serious Adverse Events (SAEs)

    Time frame: Baseline to year 17

    An AE is any noxious, pathologic, or unintended change in anatomical, physiologic, or metabolic function as indicated by physical signs, symptoms, or laboratory changes occurring in the registry, whether or not considered product-related. This includes an exacerbation of a pre-existing condition. An AE or adverse drug reaction (ADR) that meets one or more of the following criteria/outcomes is classified as serious whether considered to be related to the pharmaceutical product or not: death, is life-threatening, requires inpatient hospitalization or prolongation of existing hospitalizations, a persistent or significant disability or incapacity, a congenital anomaly or birth defect and important medical events.

  3. Number of Participants With Positive Antibody Response

    Time frame: Baseline to year 17

    Immunogenicity is determined by time to first positive antibody response (antibody level and isotype), antibody titer, isotype, and neutralizing antibodies.

  4. Change in Urinary Glycosaminoglycan (GAG) Levels

    Time frame: Baseline to year 17

    Change in urinary GAG levels from the start of ERT is reported.

  5. Change in Height

    Time frame: Baseline to year 17

    Change in height from the start of ERT will be reported.

  6. Change in Weight

    Time frame: Baseline to year 17

    Change in weight from the start of ERT will be reported.

  7. Change in Head Circumference and Corresponding Calculated Z-scores

    Time frame: Baseline to year 17

    Change in head circumference with the corresponding Z-scores from the start of ERT will be reported.

  8. Change in Distance Walked in the 6-minute Walk Test

    Time frame: Baseline to year 17

    Change in distance walked in 6-minute walk test from the start of ERT is reported.

  9. Left Ventricular Mass Index (LVMI)

    Time frame: Baseline to year 17

    Change in LVMI will be assessed as calculated by echocardiography.

  10. Change in Forced Expiratory Volume in 1 Second (FEV1)

    Time frame: Baseline to year 17

    Change in pulmonary function from the start of ERT will be reported as measured by forced expiratory volume in 1 second (FEV1).

  11. Change in Forced Vital Capacity (FVC)

    Time frame: Baseline to year 17

    Change in pulmonary function from the start of ERT will be reported as measured by forced vital capacity (FVC).

  12. Change in Liver and Spleen Size

    Time frame: Baseline to year 17

    Change in liver and spleen size as estimated by palpation will be reported.

  13. Prevalence of Cardiac and Pulmonary-related Hospitalizations

    Time frame: Baseline to year 17

    Prevalence of cardiac and pulmonary-related hospitalizations will be reported.

  14. Age at the Time of Death

    Time frame: Baseline to year 17

    Age at the time of death will be reported.

  15. Cause of Death

    Time frame: Baseline to year 17

    Causes of death will be reported

Secondary outcomes

  1. Natural History of Untreated Participants With Hunter Syndrome

    Time frame: Baseline to year 17

    Evaluation of signs and symptoms for the natural history of disease: hepatosplenomegaly, central nervous system involvement, skeletal involvement, ear, nose, and throat signs and symptoms, pulmonary signs and symptoms and cardiac signs and symptoms will be reported.

  2. Dosing Regimens of Elaprase for Prescribed Dose in Participants With Hunter Syndrome

    Time frame: Baseline to year 17

    Dosing regiments of Elaprase will be evaluated for prescribed dose.

  3. Dosing Regimens of Elaprase for Administered Dose in Participants With Hunter Syndrome

    Time frame: Baseline to year 17

    Dosing regiments of Elaprase will be evaluated for administered dose.

  4. Dosing Regimens of Elaprase for Total Infusion Time in Participants With Hunter Syndrome

    Time frame: Baseline to year 17

    Dosing regiments of Elaprase will be evaluated for total infusion time.

  5. Dosing Regimens of Elaprase for Missed Infusions in Participants With Hunter Syndrome

    Time frame: Baseline to year 17

    Dosing regiments of Elaprase will be evaluated for missed infusions.

  6. Dosing Regimens of Elaprase for Reason for Missed Infusions.

    Time frame: Baseline to year 17

    Dosing regiments of Elaprase will be evaluated for reason for missed infusions.

  7. Assessment of Hunter Syndrome on Health-related Quality of Life (HRQL) Using Hunter Syndrome-Functional Outcomes for Clinical Understanding Scale (HS-FOCUS)

    Time frame: Baseline to year 17

    HS-FOCUS was developed as disease-specific measure of the impact of Hunter syndrome on HRQL. The HS-FOCUS is designed to gather information on the participant's daily life and wellbeing, satisfaction with treatment, and hospitalizations, as well as on how Hunter syndrome impacts participant's general quality of life. HS-FOCUS includes 2 validated components: a parent version and a patient self-reported version for those over age 12 years. The HS-FOCUS Version 2.0 contains 6 functional status domains: Walking/Standing, Reach/Grip, Sleeping, Schooling/Work, Activities, and Breathing. Items are scored using a response scale from 0 to 4, with ="0" expressing being able to complete the activity-related functions "without any difficulty" and "4" as "unable to do so. Scores are averaged to calculate the 6 function domain scores and the Overall Function Score, with higher scores corresponding to a higher degree of incapacity.

Sponsors and collaborators

Lead sponsor

Shire

Industry

Registry information

Official study title

Hunter Outcome Survey: A Global, Multi-Center, Long-Term, Observational Registry of Patients With Hunter Syndrome (Mucopolysaccharidosis Type II, MPS II)

Acronym: HOS

Important dates

Study start
2005
Primary completion
2023
Study completion
2023
First posted
Sep 26, 2017
Registry last updated
Oct 28, 2024

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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