Fabry's DiseaseNCT00001491
Analysis of the Nervous System in Patients With Fabry's Disease
An observational study of Fabry's Disease, run by National Institute of Neurological Disorders and Stroke (NINDS) at 1 site in United States.
Trial summary
Fabry's disease a genetic disorder (X-linked recessive) due to the absence of the enzyme ceramidetrihexosidase. The disease is characterized by abnormal collections of glycolipids in cells (histiocytes) within blood vessel walls, tumors on the thighs, buttocks, and genitalia, decreased sweating, tingling sensations in… Read more about this study
- Who is it for?
- Any ageHealthy volunteers can take part
- Conditions the study is for
- Fabry's Disease
- How many people
- 325 participants
- Where
- 1 siteUnited States
- Study dates
- 11 May 1995to 3 Mar 2008
- 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
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Who may be able to join
- All patients with Fabry's disease will be considered as potential candidates for this study.
Who cannot join
- All candidates must be serologically nonreactive for human immunodeficiency (AIDS) virus. HIV positive patients will be excluded because of the effects of the latter illness on the nervous system.
- Patients with Fabry's disease will be excluded from participation if they have additional illnesses such as cancer, diabetes or vasculitis that could potentially involve the nervous system.
- The general health and well being of each candidate must be sufficient to allow for a modest amount of blood drawing, collection of appropriate laboratory specimens and performance of necessary roentgenograpic and magnetic resonance (MR) imaging studies. In addition, each candidate must be able to return to the National Institutes of Health (NIH) annually for monitoring of clinical and laboratory parameters.
Trial locations and contacts
1 site in 1 country.
United States1 site
National Institutes of Health Clinical Center, 9000 Rockville Pike
Bethesda, Maryland, 20892
About this study
Official title: The Natural History and Pathogenesis of Fabry Disease
Fabry's disease a genetic disorder (X-linked recessive) due to the absence of the enzyme ceramidetrihexosidase. The disease is characterized by abnormal collections of glycolipids in cells (histiocytes) within blood vessel walls, tumors on the thighs, buttocks, and genitalia, decreased sweating, tingling sensations in the extremities, and cataracts. Patients with Fabry 's disease die from complications of the kidney, heart, or brain.
The purpose of this study is to measure levels of a protein marker (PGP 9.5) in the skin, blood, and fluid surrounding the brain and spinal cord (CSF) in patients with Fabry's disease. In addition the study will attempt to determine if levels of the protein are directly related to the severity of disease in the nervous system.
Read more
PGP 9.5 protein levels will be measured in normal volunteers and patients with other diseases of the nervous system then compared to the levels recorded in patients with Fabry's disease.
This research study is designed to improve the understanding of Fabry's disease. Patients participating in it will not directly benefit from it. However, knowledge gained as a result of this study may contribute to the development of effective therapies for Fabry's disease.
Read the detailed description
OBJECTIVE: The purpose of this protocol is to study the natural history of Fabry disease in the different organ systems, understand its pathogenesis, and develop adequate clinical outcome measures for therapy trials. Development of sensitive outcome measures is a prerequisite of enzyme or gene replacement trials in patients with Fabry's disease. STUDY POPULATION: Patients with Fabry disease of all ages. The patients are not foregoing available treatment to participate in this protocol. Experimental treatment is not part of this study. STUDY DESIGN: Patients will typically be seen once a year at NIH. Patients will have comprehensive testing in order to evaluate the state of their health as affected by the Fabry disease. OUTCOME MEASURES: All potential clinically relevant areas will be evaluated comprehensively with a particular emphasis on the vasculopathy and the peripheral neuropathy of Fabry disease.
- Conditions
- Fabry's Disease
- Keywords
- Ceramidetrihexosidase Deficiency, Sural Nerve Biopsy, Nerve Conduction Studies, Quantitative Sensory Testing, PGP 9.5 Levels (Skin, Serum and CSF), Fabry Disease, Fabrys, Fabry's
- 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 posted4 Nov 1999 (estimated)
- Study start11 May 1995
- Study completion3 Mar 2008
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for Fabry'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
- Observational
- Enrolment
- 325 participants
Sponsor and investigators
- Sponsor type
- US National Institutes of Health
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00001491
- Sponsor's protocol ID
- 950121
- Other IDs
- 95-N-0121
- Status last verified
- 3 Mar 2008
- First submitted
- 3 Nov 1999
- Last updated
- 2 Jul 2017
- Results posted
- No
Publications
Tabira 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 4217553
Study at a glance
From the registry record, last updated by the sponsor on 2 Jul 2017. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- The Natural History and Pathogenesis of Fabry Disease
- ClinicalTrials.gov ID
- NCT00001491
- Acronym / sponsor ID
- 950121
- Conditions
- Fabry's Disease
- Keywords
- Ceramidetrihexosidase Deficiency, Sural Nerve Biopsy, Nerve Conduction Studies, Quantitative Sensory Testing, PGP 9.5 Levels (Skin, Serum and CSF), Fabry Disease, Fabrys, Fabry's
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 325 participants
- Lead sponsor
- National Institute of Neurological Disorders and Stroke (NINDS)US National Institutes of Health
- Study start
- 11 May 1995
- Study completion
- 3 Mar 2008
- 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.
Fabry's disease a genetic disorder (X-linked recessive) due to the absence of the enzyme ceramidetrihexosidase. The disease is characterized by abnormal collections of glycolipids in cells (histiocytes) within blood vessel walls, tumors on the thighs, buttocks, and genitalia, decreased sweating, tingling sensations in the extremities, and cataracts. Patients with Fabry 's disease die from complications of the kidney, heart, or brain.
The purpose of this study is to measure levels of a protein marker (PGP 9.5) in the skin, blood, and fluid surrounding the brain and spinal cord (CSF) in patients with Fabry's disease. In addition the study will attempt to determine if levels of the protein are directly related to the severity of disease in the nervous system.
PGP 9.5 protein levels will be measured in normal volunteers and patients with other diseases of the nervous system then compared to the levels recorded in patients with Fabry's disease.
This research study is designed to improve the understanding of Fabry's disease. Patients participating in it will not directly benefit from it. However, knowledge gained as a result of this study may contribute to the development of effective therapies for Fabry's disease.
Detailed description
OBJECTIVE: The purpose of this protocol is to study the natural history of Fabry disease in the different organ systems, understand its pathogenesis, and develop adequate clinical outcome measures for therapy trials. Development of sensitive outcome measures is a prerequisite of enzyme or gene replacement trials in patients with Fabry's disease. STUDY POPULATION: Patients with Fabry disease of all ages. The patients are not foregoing available treatment to participate in this protocol. Experimental treatment is not part of this study. STUDY DESIGN: Patients will typically be seen once a year at NIH. Patients will have comprehensive testing in order to evaluate the state of their health as affected by the Fabry disease. OUTCOME MEASURES: All potential clinically relevant areas will be evaluated comprehensively with a particular emphasis on the vasculopathy and the peripheral neuropathy of Fabry disease.
Study design
Who may qualify
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (1 listed)
- All patients with Fabry's disease will be considered as potential candidates for this study.
Key exclusion criteria (3 listed)
- All candidates must be serologically nonreactive for human immunodeficiency (AIDS) virus. HIV positive patients will be excluded because of the effects of the latter illness on the nervous system.
- Patients with Fabry's disease will be excluded from participation if they have additional illnesses such as cancer, diabetes or vasculitis that could potentially involve the nervous system.
- The general health and well being of each candidate must be sufficient to allow for a modest amount of blood drawing, collection of appropriate laboratory specimens and performance of necessary roentgenograpic and magnetic resonance (MR) imaging studies. In addition, each candidate must be able to return to the National Institutes of Health (NIH) annually for monitoring of clinical and laboratory parameters.
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 2 Jul 2017.
- 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.
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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?
An observational study of Fabry'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.
Who may be eligible to take part?
The sponsor lists 1 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 2 Jul 2017. 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 NCT00001491, which also lists 1 linked publication.
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 2 Jul 2017.