Fabry DiseaseNCT00168974
Neuropathic Pain and Fabry Disease
An observational study of Fabry Disease, run by Danish Pain Research Center at 1 site in Denmark.
Trial summary
Fabry disease is a rare X-linked lysosomal storage disorder. The mutations result in a deficiency of the lysosomal enzyme α-galactosidase causing accumulation of glycosphingolipids in the vascular endothelial cells and many other tissues. Read more about this study
- Who is it for?
- Ages 18 years and olderHealthy volunteers can take part
- Conditions the study is for
- Fabry Disease
- How many people
- 25 participants
- Where
- 1 siteDenmark
- Study dates
- Jan 2004to Nov 2007
- 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 18 years and older
- All sexes
- Healthy volunteers accepted
- Adult, Older adult
Who may be able to join
- All adult patients with confirmed Fabry disease
Who cannot join
- Patients who cannot cooperate
- Patients who are unable to understand the purpose
Trial locations and contacts
1 site in 1 country.
Denmark1 site
Danish Pain Research Center, Aarhus University Hospital
Aarhus, 8000
About this study
Official title: Somatosensoric and Autonomic Disturbances in Female Patients With Fabry Disease
Fabry disease is a rare X-linked lysosomal storage disorder. The mutations result in a deficiency of the lysosomal enzyme α-galactosidase causing accumulation of glycosphingolipids in the vascular endothelial cells and many other tissues. An early sign of the disease is painful small fibre neuropathy presenting in two forms: 1. a constant burning sensation in the hand and feet and 2. Fabry crises consisting of attacks of excruciating pain. Given the X-linked inheritance, male patients are severely affected. Recently attention has been drawn to female patients whether they also show signs of nerve involvement.
The purpose of this study is to evaluate the small fibre neuropathy in female Fabry patients. Correlation with X-chromosome inactivation will be attempted. Recombinant human α-galactosidase A is now available for patients. A part of this study is evaluation the long term efficacy of enzyme replacement therapy in female patients with Fabry disease and neuropathy.
Male family members with Fabry disease will be examined.
- Conditions
- 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 posted15 Sep 2005 (estimated)
- Study startJan 2004
- Study completionNov 2007
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Fabry DiseaseStudies of the same condition, open and under way.
- 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
- Time perspective
- Prospective
- Enrolment
- 25 participants
Sponsor and investigators
- Lead sponsor
- Danish Pain Research Center
- Sponsor type
- University, hospital or other
- Investigators
- Anette T Moller, MD, Principal investigator, Danish Pain Research CenterTroels S Jensen, MD, PhD, Study chair, Danish Pain Research Center
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00168974
- Sponsor's protocol ID
- Fabry2003
- Status last verified
- Nov 2007
- First submitted
- 13 Sep 2005
- Last updated
- 16 Nov 2007
- Results posted
- No
Study at a glance
From the registry record, last updated by the sponsor on 16 Nov 2007. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Somatosensoric and Autonomic Disturbances in Female Patients With Fabry Disease
- ClinicalTrials.gov ID
- NCT00168974
- Acronym / sponsor ID
- Fabry2003
- Conditions
- Fabry Disease
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 25 participants
- Lead sponsor
- Danish Pain Research CenterUniversity, hospital or other
- Study start
- Jan 2004
- Study completion
- Nov 2007 (actual)
- First posted
- 15 Sep 2005 (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 disease is a rare X-linked lysosomal storage disorder. The mutations result in a deficiency of the lysosomal enzyme α-galactosidase causing accumulation of glycosphingolipids in the vascular endothelial cells and many other tissues. An early sign of the disease is painful small fibre neuropathy presenting in two forms: 1. a constant burning sensation in the hand and feet and 2. Fabry crises consisting of attacks of excruciating pain. Given the X-linked inheritance, male patients are severely affected. Recently attention has been drawn to female patients whether they also show signs of nerve involvement.
The purpose of this study is to evaluate the small fibre neuropathy in female Fabry patients. Correlation with X-chromosome inactivation will be attempted. Recombinant human α-galactosidase A is now available for patients. A part of this study is evaluation the long term efficacy of enzyme replacement therapy in female patients with Fabry disease and neuropathy.
Male family members with Fabry disease will be examined.
Study design
- Time perspective
- Prospective
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Adult, Older adult
Key inclusion criteria (1 listed)
- All adult patients with confirmed Fabry disease
Key exclusion criteria (2 listed)
- Patients who cannot cooperate
- Patients who are unable to understand the purpose
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 16 Nov 2007.
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.
Anette T Moller, MD principal investigator
Danish Pain Research Center
Troels S Jensen, MD, PhD study chair
Danish Pain Research Center
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, run by Danish Pain Research Center at 1 site in Denmark.
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 2 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 16 Nov 2007. 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 Denmark. 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?
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 16 Nov 2007.