Fabry DiseaseNCT00005111
PET Scans in Normal Volunteers and Patients With Fabry Disease
An observational study of Fabry Disease and Healthy, run by National Institute of Neurological Disorders and Stroke (NINDS) at 1 site in United States.
Trial summary
This study will determine the rate of sugar metabolism in the brain of patients with Fabry disease, a genetic disease of abnormal lipid metabolism. Compared with healthy people, patients with Fabry disease have increased blood flow to the brain, which may result from abnormal brain metabolic activity. Read more about this study
- Who is it for?
- Any age, men onlyHealthy volunteers can take part
- Conditions the study is for
- Fabry Disease, Healthy
- How many people
- 24 participants
- Where
- 1 siteUnited States
- Study dates
- Apr 2000to Mar 2001
- Phase
- Observational
- 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
- Men only
- Healthy volunteers accepted
- Child, Adult, Older adult
Hemizygote male Fabry patients 18-50 years-of-age.
Must be able to tolerate the procedures.
Must be able to give written informed consent.
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: (18)Fluorodeoxyglucose Positron Emission Tomography in Patients With Fabry Disease
This study will determine the rate of sugar metabolism in the brain of patients with Fabry disease, a genetic disease of abnormal lipid metabolism. Compared with healthy people, patients with Fabry disease have increased blood flow to the brain, which may result from abnormal brain metabolic activity. This study will use positron emission tomography (PET) and magnetic resonance imaging (MRI) to compare brain sugar metabolism in eight untreated patients, eight patients who are receiving enzyme replacement therapy, and eight healthy volunteers.
Patients with treated and untreated Fabry disease and normal volunteers may be eligible for this study. Participants will undergo the following two procedures:
Read more
- PET scan < The patient lies in the PET scanning machine. First, the chest is scanned for a few minutes to determine how much radiation the tissues of the chest absorb. A radioactive sugar called fluorodeoxyglucose (FDG) is then injected through a catheter (thin plastic tube placed in a vein) and the heart is scanned for about 45 minutes to measure the amount of FDG in the blood inside the heart. The head is then scanned for about 20 minutes to measure FDG in the brain. This measurement tells how much sugar the brain uses for energy. The procedure requires insertion of two or three catheters. A special facemask may be molded to the patient's head to help hold the head still during the scanning.
- MRI scan < The patient lies on a table surrounded by the scanner (a metal cylinder) for about 60 minutes. A strong magnetic field and radio waves are used to show images of structural and chemical changes in tissues.
This study may provide information that will help explain abnormalities in Fabry disease and the effect of treatment on the brain.
Read the detailed description
We have found that patients with Fabry disease have an increased resting global cerebral blood flow compared with healthy subjects. This augmentation may result from an abnormal metabolic activity in the brain of the patients. The goal of this protocol is to study the cerebral metabolic rate of glucose (rCMRGlu) in eight untreated patients with Fabry disease, eight Fabry patients who are receiving enzyme replacement therapy and compare it with the rCMRGlu eight in healthy volunteers. In order to minimize the need for arterial lines we shall image the left ventricle of the heart to obtain the (18)FDG time-activity curve needed to measure rCMRGlu. The method will be validated in the healthy volunteers.
- Conditions
- Fabry Disease, Healthy
- Keywords
- Blood Flow, Glucose, Lysosomal Disease, Metabolic, Uptake, Fabry Disease
- Medical subject headings
- Fabry Disease
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 startApr 2000
- Study completionMar 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 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
- Observational
- Enrolment
- 24 participants
Sponsor and investigators
- Sponsor type
- US National Institutes of Health
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00005111
- Sponsor's protocol ID
- 000106
- Other IDs
- 00-N-0106
- Status last verified
- Mar 2000
- First submitted
- 13 Apr 2000
- Last updated
- 4 Mar 2008
- Results posted
- No
Publications
Kaye 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 3133979Tabira T, Goto I, Kuroiwa Y, Kikuchi M. Neuropathological and biochemical studies in Fabry's disease. Acta Neuropathol. 1974;30(4):345-54. doi: 10.1007/BF00697017. No abstract available.
PubMed 4217553Suhonen-Polvi H, Varho T, Metsahonkala L, Haataja L, Ruotsalainen U, Haaparanta M, Bergman J, Solin O, Aarimaa T, Holopainen I, Vainionpaa L, Manner T, Jaaskelainen S, Renlund M, Sillanpaa M, Aula P. Increased brain glucose utilization in Salla disease (free sialic acid storage disorder). J Nucl Med. 1999 Jan;40(1):12-8.
PubMed 9935050
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
- (18)Fluorodeoxyglucose Positron Emission Tomography in Patients With Fabry Disease
- ClinicalTrials.gov ID
- NCT00005111
- Acronym / sponsor ID
- 000106
- Conditions
- Fabry Disease, Healthy
- Keywords
- Blood Flow, Glucose, Lysosomal Disease, Metabolic, Uptake, Fabry Disease
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 24 participants
- Lead sponsor
- National Institute of Neurological Disorders and Stroke (NINDS)US National Institutes of Health
- Study start
- Apr 2000
- Study completion
- Mar 2001
- 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.
This study will determine the rate of sugar metabolism in the brain of patients with Fabry disease, a genetic disease of abnormal lipid metabolism. Compared with healthy people, patients with Fabry disease have increased blood flow to the brain, which may result from abnormal brain metabolic activity. This study will use positron emission tomography (PET) and magnetic resonance imaging (MRI) to compare brain sugar metabolism in eight untreated patients, eight patients who are receiving enzyme replacement therapy, and eight healthy volunteers.
Patients with treated and untreated Fabry disease and normal volunteers may be eligible for this study. Participants will undergo the following two procedures:
- PET scan < The patient lies in the PET scanning machine. First, the chest is scanned for a few minutes to determine how much radiation the tissues of the chest absorb. A radioactive sugar called fluorodeoxyglucose (FDG) is then injected through a catheter (thin plastic tube placed in a vein) and the heart is scanned for about 45 minutes to measure the amount of FDG in the blood inside the heart. The head is then scanned for about 20 minutes to measure FDG in the brain. This measurement tells how much sugar the brain uses for energy. The procedure requires insertion of two or three catheters. A special facemask may be molded to the patient's head to help hold the head still during the scanning.
- MRI scan < The patient lies on a table surrounded by the scanner (a metal cylinder) for about 60 minutes. A strong magnetic field and radio waves are used to show images of structural and chemical changes in tissues.
This study may provide information that will help explain abnormalities in Fabry disease and the effect of treatment on the brain.
Detailed description
We have found that patients with Fabry disease have an increased resting global cerebral blood flow compared with healthy subjects. This augmentation may result from an abnormal metabolic activity in the brain of the patients. The goal of this protocol is to study the cerebral metabolic rate of glucose (rCMRGlu) in eight untreated patients with Fabry disease, eight Fabry patients who are receiving enzyme replacement therapy and compare it with the rCMRGlu eight in healthy volunteers. In order to minimize the need for arterial lines we shall image the left ventricle of the heart to obtain the (18)FDG time-activity curve needed to measure rCMRGlu. The method will be validated in the healthy volunteers.
Study design
Who may qualify
- Sex
- Male only
- Healthy volunteers
- 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.
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 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.
- Background: PubMed 4217553Tabira T, Goto I, Kuroiwa Y, Kikuchi M. Neuropathological and biochemical studies in Fabry's disease. Acta Neuropathol. 1974;30(4):345-54. doi: 10.1007/BF00697017. No abstract available.
- Background: PubMed 9935050Suhonen-Polvi H, Varho T, Metsahonkala L, Haataja L, Ruotsalainen U, Haaparanta M, Bergman J, Solin O, Aarimaa T, Holopainen I, Vainionpaa L, Manner T, Jaaskelainen S, Renlund M, Sillanpaa M, Aula P. Increased brain glucose utilization in Salla disease (free sialic acid storage disorder). J Nucl Med. 1999 Jan;40(1):12-8.
Related trials for Fabry Disease
RecruitingPhase 3
A Study to Learn How Well Lucerastat Works and How Safe it is in Untreated Adult Male Participants With Fabry Disease
Fabry Disease
RecruitingObservational study
A Study of Patients With Fabry Disease (US Specific)
Fabry Disease
RecruitingObservational study
A Global Prospective Observational Study of Women With Fabry Disease and Their Infants During Pregnancy and Breastfeeding
Fabry Disease
Active, not recruiting
Evaluation of the Effect of a Low-FODMAP Diet on Gastrointestinal Symptoms and Inflammatory Markers in Fabry Patients
Fabry Disease
RecruitingPhase 3
A Study of Migalastat in Pediatric Subjects (2 to <12 Yrs) With Fabry Disease and Amenable GLA Variants
Fabry Disease
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?
An observational study of Fabry Disease and Healthy, 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 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.
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 NCT00005111, 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.