Hunter Syndrome
Conditions
Keywords
Mucopolysaccharidosis II, Hunter Syndrome, Enzyme Replacement Therapy, Lysosomal, Glycosaminoglycans
Brief summary
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.
Interventions
None listed
Sponsors
Shire
Study design
Observational model
OTHER
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Healthy volunteers
No
Inclusion criteria
1. Diagnosis of Hunter syndrome (biochemically and/or genetically) 2. Signed and dated written informed consent, as per either a or b below: 1. 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 2. Historical Participants: Signed and dated informed consent from the participant's LAR (where allowed by relevant individual country or site regulations/laws). .
Exclusion criteria
1. 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 Participants may re-enroll once they have completed or withdrawn from the other clinical study. 2. 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.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Cause of Death | Baseline to year 17 | Causes of death will be reported |
| Change in Distance Walked in the 6-minute Walk Test | Baseline to year 17 | Change in distance walked in 6-minute walk test from the start of ERT is reported. |
| Left Ventricular Mass Index (LVMI) | Baseline to year 17 | Change in LVMI will be assessed as calculated by echocardiography. |
| Change in Forced Expiratory Volume in 1 Second (FEV1) | 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). |
| Change in Forced Vital Capacity (FVC) | Baseline to year 17 | Change in pulmonary function from the start of ERT will be reported as measured by forced vital capacity (FVC). |
| Change in Liver and Spleen Size | Baseline to year 17 | Change in liver and spleen size as estimated by palpation will be reported. |
| Prevalence of Cardiac and Pulmonary-related Hospitalizations | Baseline to year 17 | Prevalence of cardiac and pulmonary-related hospitalizations will be reported. |
| Age at the Time of Death | Baseline to year 17 | Age at the time of death will be reported. |
| Number of Participants With Infusion-related Reactions (IRRs) | 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. |
| Number of Participants With Adverse Events (AEs) and Serious Adverse Events (SAEs) | 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. |
| Number of Participants With Positive Antibody Response | Baseline to year 17 | Immunogenicity is determined by time to first positive antibody response (antibody level and isotype), antibody titer, isotype, and neutralizing antibodies. |
| Change in Urinary Glycosaminoglycan (GAG) Levels | Baseline to year 17 | Change in urinary GAG levels from the start of ERT is reported. |
| Change in Height | Baseline to year 17 | Change in height from the start of ERT will be reported. |
| Change in Weight | Baseline to year 17 | Change in weight from the start of ERT will be reported. |
| Change in Head Circumference and Corresponding Calculated Z-scores | Baseline to year 17 | Change in head circumference with the corresponding Z-scores from the start of ERT will be reported. |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Dosing Regimens of Elaprase for Prescribed Dose in Participants With Hunter Syndrome | Baseline to year 17 | Dosing regiments of Elaprase will be evaluated for prescribed dose. |
| Dosing Regimens of Elaprase for Administered Dose in Participants With Hunter Syndrome | Baseline to year 17 | Dosing regiments of Elaprase will be evaluated for administered dose. |
| Dosing Regimens of Elaprase for Total Infusion Time in Participants With Hunter Syndrome | Baseline to year 17 | Dosing regiments of Elaprase will be evaluated for total infusion time. |
| Dosing Regimens of Elaprase for Missed Infusions in Participants With Hunter Syndrome | Baseline to year 17 | Dosing regiments of Elaprase will be evaluated for missed infusions. |
| Dosing Regimens of Elaprase for Reason for Missed Infusions. | Baseline to year 17 | Dosing regiments of Elaprase will be evaluated for reason for missed infusions. |
| Assessment of Hunter Syndrome on Health-related Quality of Life (HRQL) Using Hunter Syndrome-Functional Outcomes for Clinical Understanding Scale (HS-FOCUS) | 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. |
| Natural History of Untreated Participants With Hunter Syndrome | 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. |
Countries
United States
Outcome results
None listed