CompletedNCT00258011Updated Mar 7, 2014Results posted

Study of Aldurazyme® Replacement Therapy in Patients With Mucopolysaccharidosis I (MPS I) Disease

A Phase 3 interventional study of Aldurazyme (Recombinant Human Alpha-L-Iduronidase) in Mucopolysaccharidosis I, Hurler Syndrome and Hurler-Scheie Syndrome, sponsored by Genzyme, a Sanofi Company. Completed at 2 sites in Japan. Per ClinicalTrials.gov, last updated 2014-03-07.

Sponsored by Genzyme, a Sanofi Company · Phase 3, Interventional, and Treatment

Phase: Phase 3
Study type: Interventional
Enrollment: 3
Allocation: Not applicable
Sex: All

Study summary

This is a multi-center, open label, study conducted to evaluate the safety of laronidase administered by intravenous drip infusion in Japanese patients with MPS I disease.

Following baseline evaluation, patients will receive weekly infusions of JC0498 at an intravenous dose of 100 units/kg. Patient safety will be monitored continuously throughout the trial. In addition, the effects of JC0498 treatment in this patient population will be assessed by periodically evaluating aspects of MPS I disease in patients at scheduled intervals over the duration of the trial.

Since patients may be eligible for the trial if they have received JC0498, a portion of the data may be captured retrospectively and recorded onto the case report forms (CRFs).

This study represents the first good clinical practice (GCP) effort to characterize MPS I in the Japanese population and evaluate the effects of JC0498 on disease manifestations.

Conditions studied

Mucopolysaccharidosis I
Hurler Syndrome
Hurler-Scheie Syndrome
Scheie Syndrome

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Keywords

MPS I Disease

In context

Mucopolysaccharidoses

145 studies on the registry are indexed under Mucopolysaccharidoses; 11 are open to participants now.

This study's enrollment of 3 is below the median of 15 across 80 interventional studies indexed under Mucopolysaccharidoses.

Browse Mucopolysaccharidoses studies →

Lead sponsor

Genzyme, a Sanofi Company is the lead sponsor of 303 studies on the registry; 5 are open to participants now.

Of its 24 completed or terminated interventional studies of FDA-regulated products, 19 (79%) have results posted.

Counted across the registry records on this site, refreshed daily.

Who can participate

Ages eligible: Child (0–17), Adult (18–64), Older adult (65+)
Sexes eligible: All
Accepts healthy volunteers: No

Inclusion criteria

Written informed consent/assent of the patient or written informed consent of the parent(s) or the legal guardian(s), depending on the age of the patient, is required prior to any protocol-related procedures being performed; this includes information regarding hematopoietic stem cell transplantation (HSCT) in order to assure that the guardian(s) is fully informed regarding the risks and benefits of this alternative treatment for patients eligible for the trial and who have severe manifestations of MPS I with neurodegeneration.
Have a clinical diagnosis of MPS, confirmed by measurable clinical signs and symptoms of MPS I.
Have confirmed iduronidase deficiency with a leukocyte alpha-L-iduronidase enzyme activity level of less than 10.0% of the lower limit of the normal range of the measuring laboratory (SRL)

Exclusion criteria

Exclusion Criteria:

The patient is under consideration for or has previously undergone hematopoietic stem cell transplantation.
The patient has acute hydrocephalus at the time of enrollment.
The patient has a clinically significant organic disease (with the exception of symptoms relating to MPS I) including: cardiovascular, hepatic, pulmonary, neurologic, or renal disease, other serious intercurrent illness, or extenuating circumstances that, in the opinion of the Investigator, would preclude participation in the trial or potentially decrease survival.
The patient has received any investigational product within 30 days prior to trial enrollment (exception: JC0498).
The patient has known severe hypersensitivity to JC0498 or components of the delivery solution.

Study design

Phase: Phase 3
Primary purpose: Treatment
Allocation: Not applicable
Intervention model: Single group
Masking: None (open label)
Enrollment: 3 participants (actual)

Study arms

Experimental
Aldurazyme (laronidase) treatment
Patients received weekly infusions of JC0498 (laronidase) at an intravenous dose of 100 Units/kg (0.58 mg/kg) body weight for up to 73 weeks.
Biological: Aldurazyme (Recombinant Human Alpha-L-Iduronidase)

Interventions

BiologicalAldurazyme (Recombinant Human Alpha-L-Iduronidase)
0.58 mg/kg every week

What researchers measure

Primary outcomes

Safety Evaluation
Overall Safety Summary of Adverse Events (AEs) during Treatment Safety assessment was based on the incidence of AE reports.
Time frame: Up to 73 Weeks

Secondary outcomes

Urinary Glycosaminoglycan (GAG) Excretion
Percentage change in the concentration of GAG relative to creatinine in urine (ug GAG/mg creatinine) from baseline to last study visit. Greater decrease indicates greater response.
Time frame: Up to 73 Weeks

Results

Posted Feb 12, 2009

Limitations and caveats

Due to the rarity of the disease, this study is limited by its small sample size, lack of a control group and patients had variable treatment durations.

Participant flow

Participant flow — Overall Study
Milestone	Aldurazyme (Laronidase) Treatment
Started	3
Completed	3
Not completed	0

Outcome measures

PrimarySafety Evaluation

Overall Safety Summary of Adverse Events (AEs) during Treatment Safety assessment was based on the incidence of AE reports.

Time frame:: Up to 73 Weeks
Reported as:: Number · participants

Safety Evaluation
participants	Aldurazyme (Laronidase) Treatment
Having Adverse Events (AEs)	3 (-81.1 to -60.6)
Having drug related AEs	0
Discontinuations due to AEs	0
Having Serious AEs	1
Having Severe AEs	1
Deaths	0
Having infusion-associated reactions	0

SecondaryUrinary Glycosaminoglycan (GAG) Excretion

Percentage change in the concentration of GAG relative to creatinine in urine (ug GAG/mg creatinine) from baseline to last study visit. Greater decrease indicates greater response.

Time frame:: Up to 73 Weeks
Reported as:: Mean · percent change in concentration of GAG

Urinary Glycosaminoglycan (GAG) Excretion
percent change in concentration of GAG	Aldurazyme (Laronidase) Treatment
Baseline (3 patients analyzed)	0 ± 0
Week 4 (3 patients analyzed)	-68.0 ± 12.76
Week 8 (3 patients analyzed)	-69.9 ± 7.98
Week 12 (2 patients analyzed)	-74.6 ± 11.47
Week 16 (2 patients analyzed)	-71.0 ± 9.40
Week 20 (2 patients analyzed)	-60.6 ± 12.85
Week 26 (2 patients analyzed)	-71.5 ± 5.84
Week 30 (2 patients analyzed)	-75.2 ± 10.65
Week 34 (1 patients analyzed)	-77.7 ± 0
Week 38 (1 patients analyzed)	-69.9 ± 0
Week 42 (1 patients analyzed)	-78.0 ± 0
Week 46 (1 patients analyzed)	-67.9 ± 0
Week 52 (1 patients analyzed)	-77.0 ± 0
Week 64 (1 patients analyzed)	-81.1 ± 0
Final Examination * (3 patients analyzed)	-69.7 ± 20.23

Adverse events

Non-serious events are listed at a 0% frequency threshold.

Adverse event summary by group
Group	Deaths	Serious	Other
Aldurazyme	—	1/3 (33.3%)	3/3 (100%)

Most frequent serious events

Most frequent serious events
Event	Aldurazyme
BronchitisInfections and infestations	1/3
Catheter site infectionInfections and infestations	1/3
Respiratory syncytial virus infectionInfections and infestations	1/3
Staphylococcal sepsisInfections and infestations	1/3
Sleep apnoea syndromeRespiratory, thoracic and mediastinal disorders	1/3
Tonsillar disorderRespiratory, thoracic and mediastinal disorders	1/3

Most frequent other events

Showing 10 of 38

Most frequent other events
Event	Aldurazyme
NasopharyngitisInfections and infestations	3/3
Otitis mediaInfections and infestations	2/3
Oxygen saturation decreasedInvestigations	2/3
Heat rashSkin and subcutaneous tissue disorders	2/3
ConjunctivitisEye disorders	1/3
Ocular hyperaemiaEye disorders	1/3
DiarrhoeaGastrointestinal disorders	1/3
Catheter related complicationGeneral disorders	1/3
Catheter site erythemaGeneral disorders	1/3
Catheter site pruritusGeneral disorders	1/3

Baseline characteristics

Age, Continuous
Age, Continuous(years)	Aldurazyme (Laronidase) Treatment
Mean	12.2 ± 12.57

Sex: Female, Male
Sex: Female, Male(Participants)	Aldurazyme (Laronidase) Treatment
Female	3
Male	0

Race/Ethnicity, Customized
Race/Ethnicity, Customized(participants)	Aldurazyme (Laronidase) Treatment
Asian (Japanese)	3

Study locations

2 sites

Osaka City University Hospital
Osaka, 545-8586, Japan
National Center for Child Health and Development
Tokyo, 157-8535, Japan

Updates

Tracking since Sep 25, 2026

No changes since tracking began. The registry record was last updated on Mar 7, 2014, before this site started recording changes on Sep 25, 2026. Its history is on ClinicalTrials.gov ↗

Registry details

Key details

Study ID: NCT00258011
Lead sponsor: Genzyme, a Sanofi Company
Collaborators: BioMarin/Genzyme LLC
First posted: Nov 24, 2005
Start date: Dec 2005
Primary completion: Oct 2006
Completion: Oct 2006
Results posted: Feb 12, 2009
Last update: Mar 7, 2014

Study contacts

Shigetoyo Oguri

study director · Corp. GCP Compliance - Clinical Affairs, Genzyme Japan K.K.

View the source record on ClinicalTrials.gov ↗

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This study is completed, as verified in Feb 2014. You cannot join it, but the record below documents what was studied.

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