NCT01842841

Multicenter Extension Study of Velaglucerase Alfa in Japanese Patients With Gaucher Disease

Completed Phase 3 Results posted Last updated 14 June 2021

What this trial tests

Phase 3 trial testing velaglucerase alfa in Gaucher Disease in 5 participants. Completed in 8 October 2014.

Timeline

13 March 2013

Primary endpoint
8 October 2014

8 October 2014

Quick facts

Lead sponsor	Shire
Phase	Phase 3
Status	Completed
Study type	INTERVENTIONAL
Allocation	na
Design	single group
Masking	none
Primary purpose	treatment
Enrollment	5
Start date	13 March 2013
Primary completion	8 October 2014
Estimated completion	8 October 2014
Sites	5 locations across Japan

Drugs / interventions tested

• velaglucerase alfa (VELAGLUCERASE ALFA) — full drug profile →

Conditions studied

• Gaucher Disease — all drugs for Gaucher Disease →

Sponsor

Shire — full company profile →

Who can join

2 and older, any sex, with Gaucher Disease. Patients with the condition only — healthy volunteers not accepted.

Results — posted to ClinicalTrials.gov

Per-arm endpoint measurements with 95% confidence intervals where reported. Source: trial results section.

Number of Participants With Drug-related Adverse Events (AEs), Infusion-related AEs, and Serious AEs (SAEs) Primary · From the day of first infusion (Week 53) up to 30 days after last infusion (approximately 107 weeks)

An AE was any noxious, pathologic, or unintended change in anatomical, physiologic, or metabolic function as indicated by physical signs, symptoms, or laboratory changes occurring in any phase of a clinical study, whether or not considered related to investigational product. A SAE was an AE resulting in any of the following outcomes or deemed significant for any other reason: death; initial or prolonged in-patient hospitalization; life threatening experience (immediate risk of dying); persistent or significant disability/incapacity; congenital anomaly. An infusion-related AE was defined as an

Study drug-related AEs

Group	Value	95% CI
Velaglucerase Alfa (VPRIV®)	2

Infusion-related AEs

Group	Value	95% CI
Velaglucerase Alfa (VPRIV®)	0

Serious AEs

Group	Value	95% CI
Velaglucerase Alfa (VPRIV®)	2

Number of Participants Using Concomitant Medication Primary · From the day of first infusion (Week 53) up to 30 days after last infusion (approximately 107 weeks)

Group	Value	95% CI
Velaglucerase Alfa (VPRIV®)	5

Number of Participants With Abnormal and Clinically Significant Laboratory Test Results Primary · From Week 65 until the end of study (Week 155)

Laboratory test results were considered abnormal and clinically significant at the discretion of the investigator.

Group	Value	95% CI
Velaglucerase Alfa (VPRIV®)	1

Number of Participants With Positive Anti-Velaglucerase Alfa Antibodies Primary · From Week 65 until the end of study (Week 155)

Serum samples were collected for all participants for determination of anti-velaglucerase alfa antibodies every 12 weeks.

Group	Value	95% CI
Velaglucerase Alfa (VPRIV®)	0

Change From Baseline in Hemoglobin Concentration at Week 101 Secondary · Baseline, Week 101

Baseline was the modified baseline hemoglobin concentration, the average of the values from screening, baseline, and Week 1 Day 1 from Study HGT-GCB-087 (NCT01614574).

Group	Value	95% CI
Velaglucerase Alfa (VPRIV®)	0.22	± 0.817

Change From Baseline in Platelet Count at Week 101 Secondary · Baseline, Week 101

Baseline was the modified baseline platelet count, the average of the values from screening, baseline, and Week 1 Day 1 from Study HGT-GCB-087 (NCT01614574).

Group	Value	95% CI
Velaglucerase Alfa (VPRIV®)	9.8	± 13.14

Change From Baseline in Liver Volume Normalized to Body Weight at Week 103 Secondary · Baseline, Week 103

Liver volume was measured using magnetic resonance imaging (MRI). Liver volume measurements were normalized to the percentage of body weight. Week 51 of Study HGT-GCB-087 (NCT01614574) was considered as baseline for this endpoint.

Group	Value	95% CI
Velaglucerase Alfa (VPRIV®)	0.01	± 0.207

Change From Baseline in Spleen Volume Normalized to Body Weight at Week 103 Secondary · Baseline, Week 103

Spleen volume was measured using MRI. Spleen volume measurements were normalized to the percentage of body weight. Week 51 of Study HGT-GCB-087 (NCT01614574) was considered as baseline for this endpoint.

Group	Value	95% CI
Velaglucerase Alfa (VPRIV®)	0.04	± 0.089

Change From Baseline in Bone Marrow Burden (BMB) Score at Week 103 Secondary · Baseline, Week 103

BMB Score was measured using MRI, range from 0 (no abnormalities) to 8 points (severe disease) for the lumbar spine and from 0 (no abnormalities) to 8 points (severe disease) for the femurs. The total score was calculated as the sum of scores for femur and lumbar spine regions which ranged from 0-16 points. A higher BMB score signified more severe bone marrow involvement. Week 51 of Study HGT-GCB-087 (NCT01614574) was considered as baseline for this endpoint.

Lumbar spine scores

Group	Value	95% CI
Velaglucerase Alfa (VPRIV®)	-1.2	± 1.79

Femur scores

Group	Value	95% CI
Velaglucerase Alfa (VPRIV®)	0.0	± 2.12

Total scores

Group	Value	95% CI
Velaglucerase Alfa (VPRIV®)	-1.2	± 2.95

Change From Baseline in Plasma Chitotriosidase Levels at Week 101 Secondary · Baseline, Week 101

Plasma chitotriosidase activity levels were measured using an enzymatic assay with 4-methylumbelliferyl-deoxychitobiose as a substrate. Week 51 of Study HGT-GCB-087 (NCT01614574) was considered as baseline for this endpoint.

Group	Value	95% CI
Velaglucerase Alfa (VPRIV®)	-181.0	± 268.70

Number of Participants With Change From Baseline in Neurological Status at Week 103 Secondary · Baseline, Week 103

Neurological status was considered normal or abnormal based on investigator's discretion. Week 51 of Study HGT-GCB-087 (NCT01614574) was considered as baseline for this endpoint.

Group	Value	95% CI
Velaglucerase Alfa (VPRIV®)	0

Change From Baseline in Chemokine [C-C Motif] Ligand 18 (CCL18) Levels at Week 101 Secondary · Baseline, Week 101

Plasma CCL18 concentrations were measured using a time-resolved fluorescence assay. Week 51 of Study HGT-GCB-087 (NCT01614574) was considered as baseline for this endpoint.

Group	Value	95% CI
Velaglucerase Alfa (VPRIV®)	-11.4	± 50.97

Adverse events — posted to ClinicalTrials.gov

Time frame: From the day of first infusion (Week 53) up to 30 days after last infusion (approximately 107 weeks). Reporting threshold: 5%. Adverse-event reports describe events observed during the trial — not all are caused by the drug.

Velaglucerase Alfa (VPRIV®)

Serious: 2/5 (40%)

Deaths: —

Serious adverse events (3 terms)

Reaction	System	Velaglucerase Alfa (VPRIV®)
Hypoacusis	Ear and labyrinth disorders	—
Retinal detachment	Eye disorders	—
Vitreous opacities	Eye disorders	—

Other adverse events (37 terms — click to expand)

Reaction	System	Velaglucerase Alfa (VPRIV®)
Headache	Nervous system disorders	—
Abdominal pain upper	Gastrointestinal disorders	—
Gastroenteritis	Infections and infestations	—
Hordeolum	Infections and infestations	—
Nasopharyngitis	Infections and infestations	—
Contusion	Injury, poisoning and procedural complications	—
Excoriation	Injury, poisoning and procedural complications	—
Hypoacusis	Ear and labyrinth disorders	—
Retinal detachment	Eye disorders	—
Vitreous opacities	Eye disorders	—
Abdominal pain	Gastrointestinal disorders	—
Constipation	Gastrointestinal disorders	—
Enteritis	Gastrointestinal disorders	—
Chest pain	General disorders	—
Adenoiditis	Infections and infestations	—
Otitis media acute	Infections and infestations	—
Subcutaneous abscess	Infections and infestations	—
Upper respiratory tract infection	Infections and infestations	—
Concussion	Injury, poisoning and procedural complications	—
Fall	Injury, poisoning and procedural complications	—
Heat stroke	Injury, poisoning and procedural complications	—
Road traffic accident	Injury, poisoning and procedural complications	—
Wound	Injury, poisoning and procedural complications	—
Blood creatine phosphokinase increased	Investigations	—
C-Reactive protein increased	Investigations	—
Intraocular pressure increased	Investigations	—
Back pain	Musculoskeletal and connective tissue disorders	—
Intervertebral disc protrusion	Musculoskeletal and connective tissue disorders	—
Muscle fatigue	Musculoskeletal and connective tissue disorders	—
Neck pain	Musculoskeletal and connective tissue disorders	—
Pain in extremity	Musculoskeletal and connective tissue disorders	—
Trigger finger	Musculoskeletal and connective tissue disorders	—
Sleep disorder	Psychiatric disorders	—
Somatoform disorder	Psychiatric disorders	—
Alopecia	Skin and subcutaneous tissue disorders	—
Eczema	Skin and subcutaneous tissue disorders	—
Pruritus	Skin and subcutaneous tissue disorders	—

Most-reported serious reactions: Hypoacusis, Retinal detachment, Vitreous opacities.

Data from ClinicalTrials.gov NCT01842841 adverse events section.

Sponsor's own description

Gaucher disease is an inherited deficiency of the lysosomal enzyme glucocerebrosidase (GCB) that leads to progressive accumulation of glucocerebroside within macrophages and subsequent tissue and organ damage; typically of the liver, spleen, bone marrow, and brain. Type 1 Gaucher disease affects an estimated 30,000 persons worldwide and is the most common. Type 1 Gaucher disease does not involve the central nervous system. Patients with Type 2 Gaucher disease present with acute neurological deterioration, which leads to early death. Those with Type 3 disease typically display a more sub-acute neurological course, with later onset and slower progression.

The primary objective of this study is to evaluate the long-term safety of every other week (EOW) dosing of velaglucerase alfa in Japanese patients with Gaucher disease who completed study HGT-GCB-087 and elected to continue treatment with velaglucerase alfa.

Velaglucerase alfa has been developed and approved as an enzyme replacement therapy for Type 1 Gaucher disease.

Publications & conference data

2 peer-reviewed publications reference this trial (live from Europe PMC):

1. A multicenter, open-label extension study of velaglucerase alfa in Japanese patients with Gaucher disease: Results after a cumulative treatment period of 24months.
   Ida H, Tanaka A, Matsubayashi T, Murayama K, et al · · 2016 · cited 5× · PMID 27241455 · DOI 10.1016/j.bcmd.2015.10.002
2. Investigating the therapeutic profile of velaglucerase alfa in paediatric patients with Gaucher disease: a systematic review across all paediatric age groups.
   de Las Heras J, Cebolla JJ, de Pedro S, Gómez-Barrera M, et al · · 2026 · PMID 41645321 · DOI 10.1186/s13023-026-04221-9