Fabry DiseasePhase 2NCT00071877
An Open-Label Clinical Trial of Replagal Enzyme Therapy in Children Ages 7-17 Years With Fabry Disease
A Phase 2 study testing Replagal in people with Fabry Disease, run by National Institute of Neurological Disorders and Stroke (NINDS) at 1 site in United States.
Trial summary
This study will evaluate the safety of multiple biweekly intravenous doses of Replagal over 26 weeks in 25 children with Fabry disease and the way in which that agent can improve the health of this patient population. Fabry disease is a genetic disorder inherited as an X-linked recessive trait. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Fabry Disease
- What is being tested?
- Replagal
- How many people
- 25 participants
- Where
- 1 siteUnited States
- Study dates
- Oct 2003to Jun 2005
- 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
Who may be able to join
- Male hemizygote with Fabry Disease as documented by clinical evidence and by laboratory evidence of alpha-galactosidase A deficiency.
- Or
- Female heterozygote with Fabry Disease as documented by gene analysis showing a mutation of the alpha-galactosidase A gene. Female patients of child-bearing potential must have a negative pregnancy test at baseline and agree to the use of effective contraception such as oral contraceptive or double barrier method for study entry and while participating in the study.
- 7-17 years of age.
- Adequate general health (as determined by the investigators) to undergo the specified phlebotomy regimen and protocol related procedures.
- The child must assent to participate in the protocol and the parent(s) or legally authorized guardian(s) must have voluntarily signed an Institutional Review Board/Independent Ethics Committee (IRB/IEC) approved informed consent form after all relevant aspects of the study have been explained and discussed with the child and the child's parent(s) or legal guardian(s).
Who cannot join
- Patient has previously participated in a multi-dose clinical study of an investigational therapeutic agent for Fabry Disease.
- Patient and/or the patient's parent(s) or legal guardian(s) are unable to understand the nature, scope, and possible consequences of the study.
- Patient is unable to comply with the protocol, e.g., uncooperative with protocol schedule, refusal to agree to all of the study procedures, inability to return for safety evaluations, or is otherwise unlikely to complete the study, as determined by the investigator or the medical monitor.
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: A Clinical Trial of Replagal Enzyme Replacement Therapy in Children Ages 7 - 17 Years With Fabry Disease
This study will evaluate the safety of multiple biweekly intravenous doses of Replagal over 26 weeks in 25 children with Fabry disease and the way in which that agent can improve the health of this patient population. Fabry disease is a genetic disorder inherited as an X-linked recessive trait. It causes a deficiency in the enzyme alpha galactosidase, which normally breaks down a lipid, or fatty substance, called ceramidetrihexosidase, a building block in all cells of the body.
The deficiency in breaking down the lipid eventually causes that lipid to accumulate and injure cells. Problems in the blood vessels, kidneys, heart, and nerves are the result. The disease typically occurs in childhood or adolescence, with repeated episodes of severe pain in the extremities and other symptoms. There is no definitive treatment, but pain management is important in caring for patients with Fabry disease. Although it is not known exactly how lipid accumulation brings about such problems, studies of another lipid storage disorder, Gaucher's disease, have shown that the illness can be reversed if the lipid is removed when an appropriate enzyme, Replagal, is given intravenously. In this study, the gene response of the body's cells to Fabry disease will be described, as will any gene responses that change when the enzyme is used.
Read more
Patients 7 to 17 years of age who have Fabry disease may be eligible for this study. They will undergo the following tests and procedures:
- Physical examination.
- Neurological examination.
- Vital signs.
- Urinalysis.
- Blood tests to determine complete blood count and chemistries.
- Questionnaire on pain.
- Tests pertaining to sweating.
- Electrocardiogram.
- Doppler blood flow study.
- Diary for recording symptoms and the use of pain medications.
Participants will go through the evaluation, over a period of about 5 days, either as an inpatient or outpatient. Participants will receive an intravenous infusion of Replagal every other week, at the dose of 0.2 mg/kg of body weight. Vital signs will be measured before the infusion and immediately and after and 1 hour afterward. There will be careful monitoring for allergic reactions and side effects. The infusion time takes approximately 40 minutes.
This study will last 6 months, with the possibility of being extended another 6 months-a maintenance study in which patients will continue to receive Replagal at the same dose every 2 weeks.
Read the detailed description
The objectives of this clinical trial are to evaluate: 1) the safety of multiple biweekly (i.e. every other week) intravenous (IV) doses of Replagal over 26 weeks in 25 children ages 7-17 years old with Fabry Disease, and 2) the pharmacokinetics of Replagal in this patient population. Safety will be determined by standard clinical and laboratory measurements.
- Conditions
- Fabry Disease
- Being tested
- Replagal
- Keywords
- Lysosomal Disease, Hypohidrosis, Pain, Neuropathy, X-Linked, Fabry Disease, Children
- Medical subject headings
- Fabry Disease, Hypohidrosis, Pain
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
ReplagalDrug
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted4 Nov 2003 (estimated)
- Study startOct 2003
- Study completionJun 2005
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 Fabry 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
- 25 participants
Sponsor and investigators
- Sponsor type
- US National Institutes of Health
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00071877
- Sponsor's protocol ID
- 040029
- Other IDs
- 04-N-0029
- Status last verified
- Jun 2005
- First submitted
- 3 Nov 2003
- Last updated
- 4 Mar 2008
- Results posted
- No
Publications
Brady RO, Gal AE, Bradley RM, Martensson E, Warshaw AL, Laster L. Enzymatic defect in Fabry's disease. Ceramidetrihexosidase deficiency. N Engl J Med. 1967 May 25;276(21):1163-7. doi: 10.1056/NEJM196705252762101. No abstract available.
PubMed 6023233Kahn P. Anderson-Fabry disease: a histopathological study of three cases with observations on the mechanism of production of pain. J Neurol Neurosurg Psychiatry. 1973 Dec;36(6):1053-62. doi: 10.1136/jnnp.36.6.1053.
PubMed 4204059Kaye EM, Kolodny EH, Logigian EL, Ullman MD. Nervous system involvement in Fabry's disease: clinicopathological and biochemical correlation. Ann Neurol. 1988 May;23(5):505-9. doi: 10.1002/ana.410230513.
PubMed 3133979
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 Clinical Trial of Replagal Enzyme Replacement Therapy in Children Ages 7 - 17 Years With Fabry Disease
- ClinicalTrials.gov ID
- NCT00071877
- Acronym / sponsor ID
- 040029
- Conditions
- Fabry Disease
- Keywords
- Lysosomal Disease, Hypohidrosis, Pain, Neuropathy, X-Linked, Fabry Disease, Children
- Phase
- Phase 2
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 25 participants
- Lead sponsor
- National Institute of Neurological Disorders and Stroke (NINDS)US National Institutes of Health
- Study start
- Oct 2003
- Study completion
- Jun 2005
- First posted
- 4 Nov 2003 (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.
This study will evaluate the safety of multiple biweekly intravenous doses of Replagal over 26 weeks in 25 children with Fabry disease and the way in which that agent can improve the health of this patient population. Fabry disease is a genetic disorder inherited as an X-linked recessive trait. It causes a deficiency in the enzyme alpha galactosidase, which normally breaks down a lipid, or fatty substance, called ceramidetrihexosidase, a building block in all cells of the body.
The deficiency in breaking down the lipid eventually causes that lipid to accumulate and injure cells. Problems in the blood vessels, kidneys, heart, and nerves are the result. The disease typically occurs in childhood or adolescence, with repeated episodes of severe pain in the extremities and other symptoms. There is no definitive treatment, but pain management is important in caring for patients with Fabry disease. Although it is not known exactly how lipid accumulation brings about such problems, studies of another lipid storage disorder, Gaucher's disease, have shown that the illness can be reversed if the lipid is removed when an appropriate enzyme, Replagal, is given intravenously. In this study, the gene response of the body's cells to Fabry disease will be described, as will any gene responses that change when the enzyme is used.
Patients 7 to 17 years of age who have Fabry disease may be eligible for this study. They will undergo the following tests and procedures:
- Physical examination.
- Neurological examination.
- Vital signs.
- Urinalysis.
- Blood tests to determine complete blood count and chemistries.
- Questionnaire on pain.
- Tests pertaining to sweating.
- Electrocardiogram.
- Doppler blood flow study.
- Diary for recording symptoms and the use of pain medications.
Participants will go through the evaluation, over a period of about 5 days, either as an inpatient or outpatient. Participants will receive an intravenous infusion of Replagal every other week, at the dose of 0.2 mg/kg of body weight. Vital signs will be measured before the infusion and immediately and after and 1 hour afterward. There will be careful monitoring for allergic reactions and side effects. The infusion time takes approximately 40 minutes.
This study will last 6 months, with the possibility of being extended another 6 months-a maintenance study in which patients will continue to receive Replagal at the same dose every 2 weeks.
Detailed description
The objectives of this clinical trial are to evaluate: 1) the safety of multiple biweekly (i.e. every other week) intravenous (IV) doses of Replagal over 26 weeks in 25 children ages 7-17 years old with Fabry Disease, and 2) the pharmacokinetics of Replagal in this patient population. Safety will be determined by standard clinical and laboratory measurements.
Study design
- Primary purpose
- Treatment
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (6 listed)
- Male hemizygote with Fabry Disease as documented by clinical evidence and by laboratory evidence of alpha-galactosidase A deficiency.
- Or
- Female heterozygote with Fabry Disease as documented by gene analysis showing a mutation of the alpha-galactosidase A gene. Female patients of child-bearing potential must have a negative pregnancy test at baseline and agree to the use of effective contraception such as oral contraceptive or double barrier method for study entry and while participating in the study.
- 7-17 years of age.
- Adequate general health (as determined by the investigators) to undergo the specified phlebotomy regimen and protocol related procedures.
Key exclusion criteria (3 listed)
- Patient has previously participated in a multi-dose clinical study of an investigational therapeutic agent for Fabry Disease.
- Patient and/or the patient's parent(s) or legal guardian(s) are unable to understand the nature, scope, and possible consequences of the study.
- Patient is unable to comply with the protocol, e.g., uncooperative with protocol schedule, refusal to agree to all of the study procedures, inability to return for safety evaluations, or is otherwise unlikely to complete the study, as determined by the investigator or the medical monitor.
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 |
|---|---|---|
| Replagal | 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 6023233Brady RO, Gal AE, Bradley RM, Martensson E, Warshaw AL, Laster L. Enzymatic defect in Fabry's disease. Ceramidetrihexosidase deficiency. N Engl J Med. 1967 May 25;276(21):1163-7. doi: 10.1056/NEJM196705252762101. No abstract available.
- Background: PubMed 4204059Kahn P. Anderson-Fabry disease: a histopathological study of three cases with observations on the mechanism of production of pain. J Neurol Neurosurg Psychiatry. 1973 Dec;36(6):1053-62. doi: 10.1136/jnnp.36.6.1053.
- Background: PubMed 3133979Kaye EM, Kolodny EH, Logigian EL, Ullman MD. Nervous system involvement in Fabry's disease: clinicopathological and biochemical correlation. Ann Neurol. 1988 May;23(5):505-9. doi: 10.1002/ana.410230513.
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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 Replagal in people with Fabry 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.
Who may be eligible to take part?
The sponsor lists 6 inclusion and 3 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
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 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 NCT00071877, 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.