Gaucher's DiseasePhase 1NCT00001410
PEG-Glucocerebrosidase for the Treatment of Gaucher Disease
A Phase 1 study testing Lysodase in people with Gaucher's Disease, run by National Institute of Mental Health (NIMH) at 1 site in United States.
Trial summary
Gaucher disease is a lysosomal storage disease resulting from glucocerebroside accumulation in macrophages due to a genetic deficiency of the enzyme glucocerebrosidase. It may occur in patients of all ages. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Gaucher's Disease
- What is being tested?
- Lysodase
- How many people
- 18 participants
- Where
- 1 siteUnited States
- Study dates
- Oct 1993to Dec 2001
- Phase
- Phase 1
- 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
Patients must be at least 3 years of age.
Must have a biochemically confirmed (enzyme) and/or genetically confirmed diagnosis of type 1 or type 3 Gaucher disease.
Clinical or laboratory signs suggesting need for therapy which will include at least 2 of the following: hemoglobin less than 11 gm/dl; platelets less than 90,000/mm(3); hepatomegaly and/or splenomegaly.
Patient/Guardian must provide written informed consent.
No pregnant or breast feeding women.
No women/men of reproductive potential unless they agree to use an effective contraceptive method.
No patients treated with alglucerase or imiglucerase during the 6 months prior to study entry.
No patients with the diagnosis of type 2 Gaucher disease.
No patients who have a life-threatening disease or are gravely ill.
No patients who have rapidly progressing fatal illness or concomitant malignancy.
No patients who have a chronic infectious disease including HIV or hepatitis B.
No patients chronically on other medications which may interfere with the drug's metabolism or activity.
No patients who received blood transfusion within a month prior to study entry.
Trial locations and contacts
1 site in 1 country.
United States1 site
National Institute of Mental Health (NIMH)
Bethesda, Maryland, 20892
About this study
Official title: A Phase I and II Study of PEG-Glucocerebrosidase in Patients With Type 1 or Type 3 Gaucher Disease
Gaucher disease is a lysosomal storage disease resulting from glucocerebroside accumulation in macrophages due to a genetic deficiency of the enzyme glucocerebrosidase. It may occur in patients of all ages. The condition is marked by enlargement of the liver and spleen (hepatosplenomegaly), low blood and platelet counts, and bone abnormalities. The condition is passed from generation to generation on via autosomal recessive inheritance. There are actually three types of Gaucher disease.
Type I is the most common form. It is a chronic non-neuronopathic form, meaning the disease does not affect the nervous system. The symptoms of type I can appear at any age.
Read more
Type 2 Gaucher disease presents prenatally or in infancy and usually results in death for the patient. Type 2 is an acute neuronopathic form and can affect the brain stem. It is the most severe form of the disease.
Type 3 Gaucher disease is also neuronopathic, however it is subacute in nature. This means the course of the illness lies somewhere between long-term (chronic) and short-term (acute).
Currently there is not a cure for Gaucher disease. Treatment for the disease has traditionally been supportive. In some severely affected patients, bone-marrow transplants have corrected the enzyme deficiency, but it is considered a high-risk procedure and recovery can be very slow. Enzyme replacement therapy is another therapy option and has been approved by the Food and Drug Administration (FDA) for use in type 1 patients.
PEG-glucocerbrosidase is a drug designed to clear out the accumulation of lipid (glucocerebroside) from the blood stream. The drug is actually an enzyme attached to large molecules called polyethylene glycol (PEG). The large molecules of PEG allow the enzyme to remain in the blood stream for long periods of time. By modifying glucocerebrosidase with PEG, it is believed that smaller doses will be required, meaning a reduction in cost for the patient and more convenient administration of the drug. The purpose of this study is to evaluate the effects and safety of enzyme replacement therapy using PEG- glucocerebrosidase for the treatment of Gaucher disease.
Read the detailed description
The purpose of this clinical study is to evaluate the biochemical and therapeutic effects and safety of enzyme replacement therapy using polyethyleneglycol (PEG) modified glucocerebrosidase for the treatment of Gaucher disease and to evaluate the benefit to risk ratio. The study is designed to determine the safety and efficacy in Gaucher patients of recombinantly produced human glucocerebrosidase, which is PEG modified. Parameters to be monitored include hemoglobin, platelet counts, organ size, and extent of bony involvement. Pharmacokinetic, pharmacodynamic, and antibody studies will also be evaluated.
- Conditions
- Gaucher's Disease
- Being tested
- Lysodase
- Keywords
- Recombinant Production, Inherited Disease, Lysosomal Disorder, Inborn Error of Metabolism, Enzyme Replacement Therapy, Glucocerebrosidase, Polyethylene Glycol, Gaucher Disease, Recombinant Enzyme
- Medical subject headings
- Gaucher Disease, Genetic Diseases, Inborn, Metabolism, Inborn Errors
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
LysodaseDrug
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted4 Nov 1999 (estimated)
- Study startOct 1993
- Study completionDec 2001
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (3)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 Mental Health (NIMH)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 1
- Primary purpose
- Treatment
- Enrolment
- 18 participants
Sponsor and investigators
- Lead sponsor
- National Institute of Mental Health (NIMH)
- Sponsor type
- US National Institutes of Health
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00001410
- Sponsor's protocol ID
- 940014
- Other IDs
- 94-M-0014
- Status last verified
- Dec 2001
- First submitted
- 3 Nov 1999
- Last updated
- 4 Mar 2008
- Results posted
- No
Publications
Martin BM, Sidransky E, Ginns EI. Gaucher's disease: advances and challenges. Adv Pediatr. 1989;36:277-306. No abstract available.
PubMed 2675571Martin BM, Tsuji S, LaMarca ME, Maysak K, Eliason W, Ginns EI. Glycosylation and processing of high levels of active human glucocerebrosidase in invertebrate cells using a baculovirus expression vector. DNA. 1988 Mar;7(2):99-106. doi: 10.1089/dna.1988.7.99.
PubMed 3282855Rappeport JM, Ginns EI. Bone-marrow transplantation in severe Gaucher's disease. N Engl J Med. 1984 Jul 12;311(2):84-8. doi: 10.1056/NEJM198407123110203.
PubMed 6377066
Study at a glance
From the registry record, last updated by the sponsor on 4 Mar 2008. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Phase I and II Study of PEG-Glucocerebrosidase in Patients With Type 1 or Type 3 Gaucher Disease
- ClinicalTrials.gov ID
- NCT00001410
- Acronym / sponsor ID
- 940014
- Conditions
- Gaucher's Disease
- Keywords
- Recombinant Production, Inherited Disease, Lysosomal Disorder, Inborn Error of Metabolism, Enzyme Replacement Therapy, Glucocerebrosidase, Polyethylene Glycol, Gaucher Disease
- Phase
- Phase 1
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 18 participants
- Lead sponsor
- National Institute of Mental Health (NIMH)US National Institutes of Health
- Study start
- Oct 1993
- Study completion
- Dec 2001
- First posted
- 4 Nov 1999 (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.
Gaucher disease is a lysosomal storage disease resulting from glucocerebroside accumulation in macrophages due to a genetic deficiency of the enzyme glucocerebrosidase. It may occur in patients of all ages. The condition is marked by enlargement of the liver and spleen (hepatosplenomegaly), low blood and platelet counts, and bone abnormalities. The condition is passed from generation to generation on via autosomal recessive inheritance. There are actually three types of Gaucher disease.
Type I is the most common form. It is a chronic non-neuronopathic form, meaning the disease does not affect the nervous system. The symptoms of type I can appear at any age.
Type 2 Gaucher disease presents prenatally or in infancy and usually results in death for the patient. Type 2 is an acute neuronopathic form and can affect the brain stem. It is the most severe form of the disease.
Type 3 Gaucher disease is also neuronopathic, however it is subacute in nature. This means the course of the illness lies somewhere between long-term (chronic) and short-term (acute).
Currently there is not a cure for Gaucher disease. Treatment for the disease has traditionally been supportive. In some severely affected patients, bone-marrow transplants have corrected the enzyme deficiency, but it is considered a high-risk procedure and recovery can be very slow. Enzyme replacement therapy is another therapy option and has been approved by the Food and Drug Administration (FDA) for use in type 1 patients.
PEG-glucocerbrosidase is a drug designed to clear out the accumulation of lipid (glucocerebroside) from the blood stream. The drug is actually an enzyme attached to large molecules called polyethylene glycol (PEG). The large molecules of PEG allow the enzyme to remain in the blood stream for long periods of time. By modifying glucocerebrosidase with PEG, it is believed that smaller doses will be required, meaning a reduction in cost for the patient and more convenient administration of the drug. The purpose of this study is to evaluate the effects and safety of enzyme replacement therapy using PEG- glucocerebrosidase for the treatment of Gaucher disease.
Detailed description
The purpose of this clinical study is to evaluate the biochemical and therapeutic effects and safety of enzyme replacement therapy using polyethyleneglycol (PEG) modified glucocerebrosidase for the treatment of Gaucher disease and to evaluate the benefit to risk ratio. The study is designed to determine the safety and efficacy in Gaucher patients of recombinantly produced human glucocerebrosidase, which is PEG modified. Parameters to be monitored include hemoglobin, platelet counts, organ size, and extent of bony involvement. Pharmacokinetic, pharmacodynamic, and antibody studies will also be evaluated.
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 |
|---|---|---|
| Lysodase | 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 4 Mar 2008.
- Background: PubMed 2675571Martin BM, Sidransky E, Ginns EI. Gaucher's disease: advances and challenges. Adv Pediatr. 1989;36:277-306. No abstract available.
- Background: PubMed 3282855Martin BM, Tsuji S, LaMarca ME, Maysak K, Eliason W, Ginns EI. Glycosylation and processing of high levels of active human glucocerebrosidase in invertebrate cells using a baculovirus expression vector. DNA. 1988 Mar;7(2):99-106. doi: 10.1089/dna.1988.7.99.
- Background: PubMed 6377066Rappeport JM, Ginns EI. Bone-marrow transplantation in severe Gaucher's disease. N Engl J Med. 1984 Jul 12;311(2):84-8. doi: 10.1056/NEJM198407123110203.
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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 1 study testing Lysodase in people with Gaucher's Disease, run by National Institute of Mental Health (NIMH) 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 4 Mar 2008. 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 1 studies test a treatment in a small group of people for the first time or in a new way, mainly to check safety and find the right dose.
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 NCT00001410, which also lists 3 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 4 Mar 2008.