Hunter Outcome Survey (HOS)

NCT03292887 | Completed

• 1 other identifier: HOS
• Study Type: observational
• Target: 1,443
• Locations: 1 country
• Sites: 1

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.

Conditions

Hunter Syndrome

Keywords

Mucopolysaccharidosis II; Hunter Syndrome; Enzyme Replacement Therapy; Lysosomal; Glycosaminoglycans

Outcome Measures

Primary Outcomes (15)

• Number of Participants With Infusion-related Reactions (IRRs)

  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.

  Baseline to year 17

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

  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.

  Baseline to year 17

• Number of Participants With Positive Antibody Response

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

  Baseline to year 17

• Change in Urinary Glycosaminoglycan (GAG) Levels

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

  Baseline to year 17

• Change in Height

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

  Baseline to year 17

• Change in Weight

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

  Baseline to year 17

• Change in Head Circumference and Corresponding Calculated Z-scores

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

  Baseline to year 17

• Change in Distance Walked in the 6-minute Walk Test

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

  Baseline to year 17

• Left Ventricular Mass Index (LVMI)

  Change in LVMI will be assessed as calculated by echocardiography.

  Baseline to year 17

• Change in Forced Expiratory Volume in 1 Second (FEV1)

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

  Baseline to year 17

• Change in Forced Vital Capacity (FVC)

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

  Baseline to year 17

• Change in Liver and Spleen Size

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

  Baseline to year 17

• Prevalence of Cardiac and Pulmonary-related Hospitalizations

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

  Baseline to year 17

• Age at the Time of Death

  Age at the time of death will be reported.

  Baseline to year 17

• Cause of Death

  Causes of death will be reported

  Baseline to year 17

Secondary Outcomes (7)

• Natural History of Untreated Participants With Hunter Syndrome

  Baseline to year 17

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

  Baseline to year 17

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

  Baseline to year 17

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

  Baseline to year 17

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

  Baseline to year 17

Study Arms (2)

Elaprase Treated

Participants with Hunters Syndrome received or receiving treatment with Elaprase as prescribed by their physician following locally approved prescribing information.

Elaprase Non-Treated

Participants received no treatment for Hunters Syndrome.

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

The HOS registry is open to all participants (both alive and deceased) with Hunter syndrome who are untreated or who are receiving/received treatment with Elaprase, including participants who are alive at HOS enrollment (referred to as "Prospective Patients") and participants who are deceased at HOS enrollment (referred to as "Historical Patients").

You may qualify if:

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

You may not qualify if:

• 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.

Sponsors & Collaborators

• Shire: lead

Study Sites (1)

Shire

Lexington, Massachusetts, 02421, United States

Location

Related Publications (1)

• Muenzer J, Amartino H, Giugliani R, Harmatz P, Lin SP, Link B, Molter D, Ramaswami U, Scarpa M, Botha J, Audi J, Burton BK. Unmet needs of adults living with mucopolysaccharidosis II: data from the Hunter Outcome Survey. Orphanet J Rare Dis. 2025 Jul 1;20(1):319. doi: 10.1186/s13023-024-03464-8.

  PMID: 40598289 DERIVED

Related Links

• To obtain more information on the study, click here/on this link

MeSH Terms

Conditions

Mucopolysaccharidosis II

Condition Hierarchy (Ancestors)

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

Study Officials

• Study Director

  Shire

  STUDY DIRECTOR

Study Design

• Study Type: observational
• Observational Model: OTHER
• Time Perspective: PROSPECTIVE
• Target Duration: 20 Years
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: September 18, 2017
• First Posted: September 26, 2017
• Study Start: October 3, 2005
• Primary Completion: February 16, 2023
• Study Completion: February 16, 2023
• Last Updated: October 28, 2024

Record last verified: 2024-10

Locations

US (1)