Gaucher's DiseasePhase 2NCT00001416
Bone Response to Enzyme Replacement in Gaucher's Disease
A Phase 2 study testing CEREDASE™ in people with Gaucher's Disease, run by National Institute of Neurological Disorders and Stroke (NINDS) at 1 site in United States.
Trial summary
The purpose of this study is to examine how the skeleton responds to repeated doses of enzyme replacement therapy in patients with type I Gaucher's disease who have had their spleens removed. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Gaucher's Disease
- What is being tested?
- CEREDASE™
- How many people
- 100 participants
- Where
- 1 siteUnited States
- Study dates
- Dec 1993to Nov 2000
- Phase
- Phase 2
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Splenectomized Gaucher patients.
Aged 18-45 who have not received enzyme therapy for at least 1 year.
No patients with other illnesses (pulmonary, liver, kidney, bone, hematologic).
Trial locations and contacts
1 site in 1 country.
United States1 site
National Institute of Neurological Disorders and Stroke (NINDS)
Bethesda, Maryland, 20892
About this study
Official title: Skeletal Responses to Macrophage-Targeted Glucocerebrosidase in Patients With Type 1 Gaucher's Disease
The purpose of this study is to examine how the skeleton responds to repeated doses of enzyme replacement therapy in patients with type I Gaucher's disease who have had their spleens removed.
Gaucher disease is a lysosomal storage disease resulting from glycocerebroside accumulation in macrophages due to a genetic deficiency of the enzyme glucocerebrosidase. It may occur in adults but occurs most severely in infants, in whom cerebroside also accumulates in neurons. Patients with Gaucher's disease experience enlargement of the liver and spleen and bone destruction. The condition is passed from generation to generation through autosomal recessive inheritance.
Read more
Type I is the most common form. It is a chronic non-neuronopathic form, meaning the disease does not affect nerve cells. The symptoms of type I can appear at any age.
In this study patients will be divided into three groups. Each group will receive different doses of enzyme replacement (Ceredase). In addition, two of the three groups will also receive doses of a form of vitamin D (calcitriol). Researchers believe the groups receiving vitamin D will have an improved response as compared to those patients only receiving enzyme replacement.
Patients in each group who respond to enzyme replacement with increases in bone density will be compared to the other treatment groups.
Read the detailed description
The purpose of this study is to examine the response of the skeleton to repeated infusions of macrophage-targeted glucocerebrosidase (CEREDASE (Trademark) ) in splenectomized patients with type I Gaucher's disease. The magnitude and rate of development of the skeletal response will be monitored non-invasively. Theoretically, an enhanced response should occur in patients supplemented with pharmacologic doses of 1, 25-dihydroxyvitamin D3 (calcitriol), since calcium absorption and enzyme delivery to bone marrow macrophages should be increased in this setting. These issues will be addressed in a clinical trial that uses a modified factorial design. A total of 57 patients will be assigned to three treatment groups by block randomization.
Group 1: CEREDASE (Trademark) (60 IU/kg q2wks; 0-6 months)
CEREDASE (Trademark) (30 IU/kg q2wks; 7-24 months)
Group 2: Calcitriol (0.25-3.0 micrograms/day; 0-24 months)
CEREDASE (Trademark) (60 IU/kg q2wks; 7-12 months)
CEREDASE (Trademark) (30 IU/kg q2wks; 13-24 months)
Group 3: Calcitriol (0.25-3.0 micrograms/day; 0-24 months)
CEREDASE (Trademark) (60 IU/kg q2wks; 0-6 months)
CEREDASE (Trademark) (30 IU/kg q2wks; 7-24 months)
The number of patients responding to enzyme replacement with a significant decrease in hepatic volume and a significant increase in trabecular bone density of the lumbar spine will be compared between the treatment groups.
- Conditions
- Gaucher's Disease
- Being tested
- CEREDASE™
- Keywords
- Bone Disease, Calcitriol, Enzyme Replacement Therapy, Gaucher's Disease, Vitamin D
- Medical subject headings
- Gaucher Disease, Bone Diseases
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
CEREDASE™Drug
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted10 Dec 2002 (estimated)
- Study startDec 1993
- Study completionNov 2000
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (2)Papers the sponsor has linked to this study.
- Other trials for Gaucher's DiseaseStudies of the same condition, open and under way.
- More trials run by National Institute of Neurological Disorders and Stroke (NINDS)The sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase 2
- Primary purpose
- Treatment
- Enrolment
- 100 participants
Sponsor and investigators
- Sponsor type
- US National Institutes of Health
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00001416
- Sponsor's protocol ID
- 940050
- Other IDs
- 94-N-0050
- Status last verified
- Sep 2016
- First submitted
- 3 Nov 1999
- Last updated
- 22 Sep 2016
- Results posted
- No
Publications
Rosenthal DI, Barton NW, McKusick KA, Rosen BR, Hill SC, Castronovo FP, Brady RO, Doppelt SH, Mankin HJ. Quantitative imaging of Gaucher disease. Radiology. 1992 Dec;185(3):841-5. doi: 10.1148/radiology.185.3.1438773.
PubMed 1438773Barton NW, Brady RO, Dambrosia JM, Di Bisceglie AM, Doppelt SH, Hill SC, Mankin HJ, Murray GJ, Parker RI, Argoff CE, et al. Replacement therapy for inherited enzyme deficiency--macrophage-targeted glucocerebrosidase for Gaucher's disease. N Engl J Med. 1991 May 23;324(21):1464-70. doi: 10.1056/NEJM199105233242104.
PubMed 2023606
Study at a glance
From the registry record, last updated by the sponsor on 22 Sep 2016. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Skeletal Responses to Macrophage-Targeted Glucocerebrosidase in Patients With Type 1 Gaucher's Disease
- ClinicalTrials.gov ID
- NCT00001416
- Acronym / sponsor ID
- 940050
- Conditions
- Gaucher's Disease
- Keywords
- Bone Disease, Calcitriol, Enzyme Replacement Therapy, Gaucher's Disease, Vitamin D
- Phase
- Phase 2
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 100 participants
- Lead sponsor
- National Institute of Neurological Disorders and Stroke (NINDS)US National Institutes of Health
- Study start
- Dec 1993
- Study completion
- Nov 2000
- First posted
- 10 Dec 2002 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
The purpose of this study is to examine how the skeleton responds to repeated doses of enzyme replacement therapy in patients with type I Gaucher's disease who have had their spleens removed.
Gaucher disease is a lysosomal storage disease resulting from glycocerebroside accumulation in macrophages due to a genetic deficiency of the enzyme glucocerebrosidase. It may occur in adults but occurs most severely in infants, in whom cerebroside also accumulates in neurons. Patients with Gaucher's disease experience enlargement of the liver and spleen and bone destruction. The condition is passed from generation to generation through autosomal recessive inheritance.
Type I is the most common form. It is a chronic non-neuronopathic form, meaning the disease does not affect nerve cells. The symptoms of type I can appear at any age.
In this study patients will be divided into three groups. Each group will receive different doses of enzyme replacement (Ceredase). In addition, two of the three groups will also receive doses of a form of vitamin D (calcitriol). Researchers believe the groups receiving vitamin D will have an improved response as compared to those patients only receiving enzyme replacement.
Patients in each group who respond to enzyme replacement with increases in bone density will be compared to the other treatment groups.
Detailed description
The purpose of this study is to examine the response of the skeleton to repeated infusions of macrophage-targeted glucocerebrosidase (CEREDASE (Trademark) ) in splenectomized patients with type I Gaucher's disease. The magnitude and rate of development of the skeletal response will be monitored non-invasively. Theoretically, an enhanced response should occur in patients supplemented with pharmacologic doses of 1, 25-dihydroxyvitamin D3 (calcitriol), since calcium absorption and enzyme delivery to bone marrow macrophages should be increased in this setting. These issues will be addressed in a clinical trial that uses a modified factorial design. A total of 57 patients will be assigned to three treatment groups by block randomization.
Group 1: CEREDASE (Trademark) (60 IU/kg q2wks; 0-6 months)
CEREDASE (Trademark) (30 IU/kg q2wks; 7-24 months)
Group 2: Calcitriol (0.25-3.0 micrograms/day; 0-24 months)
CEREDASE (Trademark) (60 IU/kg q2wks; 7-12 months)
CEREDASE (Trademark) (30 IU/kg q2wks; 13-24 months)
Group 3: Calcitriol (0.25-3.0 micrograms/day; 0-24 months)
CEREDASE (Trademark) (60 IU/kg q2wks; 0-6 months)
CEREDASE (Trademark) (30 IU/kg q2wks; 7-24 months)
The number of patients responding to enzyme replacement with a significant decrease in hepatic volume and a significant increase in trabecular bone density of the lumbar spine will be compared between the treatment groups.
Study design
- Primary purpose
- Treatment
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| CEREDASE™ | Drug | – |
Primary outcome
Not reported in the source record.
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 22 Sep 2016.
- Background: PubMed 1438773Rosenthal DI, Barton NW, McKusick KA, Rosen BR, Hill SC, Castronovo FP, Brady RO, Doppelt SH, Mankin HJ. Quantitative imaging of Gaucher disease. Radiology. 1992 Dec;185(3):841-5. doi: 10.1148/radiology.185.3.1438773.
- Background: PubMed 2023606Barton NW, Brady RO, Dambrosia JM, Di Bisceglie AM, Doppelt SH, Hill SC, Mankin HJ, Murray GJ, Parker RI, Argoff CE, et al. Replacement therapy for inherited enzyme deficiency--macrophage-targeted glucocerebrosidase for Gaucher's disease. N Engl J Med. 1991 May 23;324(21):1464-70. doi: 10.1056/NEJM199105233242104.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
The record lists no contact. Use the official record to reach the sponsor.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A Phase 2 study testing CEREDASE™ in people with Gaucher's Disease, run by National Institute of Neurological Disorders and Stroke (NINDS) at 1 site in United States.
The full registered description is in the About this study section and the official record.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 22 Sep 2016. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
What does this phase mean?
Phase 2 studies give the treatment to a larger group to see whether it has the intended effect and to keep checking safety.
Not every study follows the same path, and some studies (observational studies, device studies) have no phase.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT00001416, which also lists 2 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 22 Sep 2016.