An observational study in Hunter Syndrome, sponsored by Shire. Completed at 7 sites in 2 countries. Open to male participants aged Up to 70 Years. Per ClinicalTrials.gov, last updated 2021-06-09.
Sponsored by Shire · Observational
The purpose of the study is to collect data on CSF biomarkers in patients with Hunter Syndrome that would serve as reference data for comparison with cognitively impaired patients with Hunter syndrome, patients with other lysosomal storage diseases, or other diseases with CNS involvement.
To determine levels of glycosaminoglycans (GAGs), including dermatan sulfate (DS) and heparan sulfate (HS), GAG-degradation products, and other biomarkers of central nervous system (CNS) and lysosomal function in cerebrospinal fluid (CSF) in pediatric and adult patients with Hunter syndrome.
71 studies on the registry are indexed under Mucopolysaccharidosis II; 8 are open to participants now.
This study's enrollment of 10 is below the median of 34 across 24 observational studies indexed under Mucopolysaccharidosis II.
Browse Mucopolysaccharidosis II studies →Shire is the lead sponsor of 346 studies on the registry; 2 are open to participants now.
Of its 47 completed or terminated interventional studies of FDA-regulated products, 47 (100%) have results posted.
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The study population will consist of pediatric (\<18 years of age) and adult (≥18 years of age) male patients with Hunter syndrome. Up to approximately 60 patients (approximately 30 adults and 30 children) may be enrolled in this study.
Exclusion Criteria:
Approximately 5 adults (equal to or not less than 18yrs old) and 5 children (equal to or not over 18yrs old)
Other: No treatment
Levels of Total Glycosaminoglycan (GAG) in CSF
The concentration of total GAG, including heparan sulfate (HS) and dermatan sulfate (DS) oligosaccharides, in CSF was measured using an enzymatic assay.
Time frame: Day 1
Levels of GAG in Urine
The levels of GAG (including sulfated DS/HS oligosaccharides) in urine were determined by the Blyscan sulfated GAG assay kit. The concentration of GAG in urine was normalized to the urine creatinine value and reported as mg GAG/mmol creatinine.
Time frame: Day 1
| Milestone | No Investigational Treatment or Control Group |
|---|---|
| Started | 10 |
| Completed | 10 |
| Not completed | 0 |
The concentration of total GAG, including heparan sulfate (HS) and dermatan sulfate (DS) oligosaccharides, in CSF was measured using an enzymatic assay.
| ng/mL | No Investigational Treatment or Control Group |
|---|---|
| Levels of Total Glycosaminoglycan (GAG) in CSF | 816.750 (316.450 to 1317.050) |
The levels of GAG (including sulfated DS/HS oligosaccharides) in urine were determined by the Blyscan sulfated GAG assay kit. The concentration of GAG in urine was normalized to the urine creatinine value and reported as mg GAG/mmol creatinine.
| mg GAG/mmol Creatinine | No Investigational Treatment or Control Group |
|---|---|
| Levels of GAG in Urine | 12.458 (3.282 to 21.633) |
Non-serious events are listed at a 5% frequency threshold.
| Group | Deaths | Serious | Other |
|---|---|---|---|
| No Investigational Treatment or Control Group | — | 1/9 (11.1%) | 4/9 (44.4%) |
| Event | No Investigational Treatment or Control Group |
|---|---|
| HeadacheNervous system disorders | 1/9 |
| Event | No Investigational Treatment or Control Group |
|---|---|
| Stiff NeckMusculoskeletal and connective tissue disorders | 1/9 |
| HeadacheNervous system disorders | 1/9 |
| Pain Secondary to Surgical ProcedureInjury, poisoning and procedural complications | 1/9 |
| Difficulty Hearing in Right Ear Secondary to NeurosurgeryInjury, poisoning and procedural complications | 1/9 |
| Intermittent Headaches Post-NeurosurgeryInjury, poisoning and procedural complications | 1/9 |
| Intermittent Lower Abdomen SpasmsGastrointestinal disorders | 1/9 |
| Intermittent Soreness Post-SurgeryInjury, poisoning and procedural complications | 1/9 |
Safety Population: All patients who had undergone a procedure for CSF sample collection. This included a patient who underwent unsuccessful CSF sample collection. It did not include a patient who provided a retrospective CSF sample.
| Age, Categorical(Participants) | No Investigational Treatment or Control Group |
|---|---|
| <=18 years | 4 |
| Between 18 and 65 years | 5 |
| >=65 years | 0 |
| Age, Continuous(years) | No Investigational Treatment or Control Group |
|---|---|
| Mean | 19.36 (4.1 to 36.8) |
| Sex: Female, Male(Participants) | No Investigational Treatment or Control Group |
|---|---|
| Female | 0 |
| Male | 9 |
| Region of Enrollment(Participants) | No Investigational Treatment or Control Group |
|---|---|
| United States | 8 |
| United Kingdom | 1 |
This study is completed, as verified in May 2021. You cannot join it, but the record below documents what was studied.
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