Fabry DiseaseNCT00106912
Study to Collect Data on Fabry Disease Patients With Enhanceable Alpha-Galactosidase A Activity
An observational study of Fabry Disease, run by National Institute of Neurological Disorders and Stroke (NINDS) at 1 site in United States.
Trial summary
This study will collect data needed to design a treatment trial for patients with Fabry disease using the experimental drug AT-1001. Fabry disease is an inherited metabolic disorder in which an enzyme called alpha-galactosidase A, which normally breaks down fatty substances called glycolipids, is missing or does not… Read more about this study
- Who is it for?
- Ages 18 years and older, men only
- Conditions the study is for
- Fabry Disease
- How many people
- 35 participants
- Where
- 1 siteUnited States
- Study dates
- 28 Mar 2005to 27 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 18 years and older
- Men only
- No healthy volunteers
- Adult, Older adult
Who may be able to join
- Age 18 and older males
- Patients will be included if they possess an Alpha-Gal A mutation that in previous investigations has been associated with enhancement of enzyme activity, as judged by the Principal Investigator.
Who cannot join
- Patients whose general health prevents them from participating.
- Patients with significant disease unrelated to Fabry disease (e.g. diabetes, cancer).
- Patients who refuse to sign the informed consent form or who are unable to travel to the NIH Clinical Center.
- Patients who are currently participating in a clinical trial of small molecule or gene therapy for Fabry disease.
- Patients who are currently participating in a clinical trial for any condition other than Fabry disease.
- Patients who are judged by the Principal Investigator to be not qualified to participate.
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: A Study to Collect Normative Data on Fabry Disease Patients With Enhanceable Alpha-Galactosidase A Activity
This study will collect data needed to design a treatment trial for patients with Fabry disease using the experimental drug AT-1001. Fabry disease is an inherited metabolic disorder in which an enzyme called alpha-galactosidase A, which normally breaks down fatty substances called glycolipids, is missing or does not function properly. As a result, glycolipids accumulate in various tissues, causing liver, kidney, nerves, skin, muscle and blood vessel problems. No treatment is given in this survey study.
Males 18 years of age and older with Fabry disease who have certain genetic mutations associated with enhancement of alpha-galactosidase A activity may be eligible for this study. Participants undergo the following tests and procedures over 5 days:
Read more
Day 1
Medical history and physical examination, blood tests, electrocardiogram (EKG), routine urinalysis, measurements of height, weight, and vital signs (blood pressure, heart rate, breathing rate, and temperature).
Day 2
Blood tests, 24-hour urine collection, vital signs and sweat test. The sweat test (also called QSART, or quantitative sudomotor axon reflex test) measures the amount of sweat in a particular area of skin. A small amount of medication called acetylcholine is put on an area of the skin and a small electric current is applied to stimulate the sweat glands.
Day 3
Blood tests, 24-hour urine collection, vital signs, and skin biopsy. For the skin biopsy, a small area of skin is numbed and a punch device is used to remove a 3-mm (1/8-inch) layer of skin for microscopic examination.
Day 4
Blood tests, 24-hour urine collection, vital signs, and QSART.
Day 5
Blood tests and vital signs.
In addition to the above, patients are scheduled at some point in the 5-day study for an eye examination, brain magnetic resonance angiogram (MRA), and a heart examination and echocardiogram. MRA uses a strong magnetic field and radio waves to provide images of the blood vessels in the head and neck. It can detect abnormalities such as aneurysms, vessel malformations, and thickening of the vessel walls. An echocardiogram is an ultrasound test that shows how well the heart pumps blood and if there is thickening of the heart muscle.
Patients who are taking enzyme replacement therapy discontinue treatment for up to 6 weeks (no more than two missed infusions) to allow accurate measurement of the amount of alpha-galactosidase A the patient's body produces by itself. They provide weekly blood samples between the time they stop treatment and enter the study. The samples are used to monitor the removal of the enzyme from the body and the possible buildup of Gb(3) in the blood.
Read the detailed description
This protocol is designed to characterize the clinical and laboratory profile of patients with Fabry disease who have residual levels of Alpha-galactosidase (Alpha- Gal A) activity. Normally these are patients with the later onset or milder forms of the disease, sometimes referred to as the cardiac and/or renal variants. Enzyme Enhancement Therapy is a novel therapeutic approach to treatment of lysosomal storage diseases that has recently been proposed, for patients who produce low levels of endogenous enzyme. We plan to evaluate this therapy in later-onset Fabry disease patients and in preparation we need to develop sensitive outcome measures for this subset of patients. Thirty patients with enhanceable Alpha- Gal A activity will be recruited. If on enzyme replacement therapy, they will be asked to miss up to two biweekly infusions. These patients, along with five control patients with non-enhanceable(classic) Fabry disease, will undergo a comprehensive five day evaluation at the NIH Clinical Center that will include a complete physical examination, functional studies of the heart, eye, kidney and sweat function, imaging of the brain and the heart and a number of blood and urine tests, as well as a skin biopsy.
- Conditions
- Fabry Disease
- Keywords
- Genetic, Stroke, Heart, Lysosomal, Glycolipid, Fabry Disease
- Medical subject headings
- Fabry Disease, Stroke
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted1 Apr 2005 (estimated)
- Study start28 Mar 2005
- Study completion27 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 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
- 35 participants
Sponsor and investigators
- Sponsor type
- US National Institutes of Health
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00106912
- Sponsor's protocol ID
- 050129
- Other IDs
- 05-N-0129
- Status last verified
- 27 Mar 2008
- First submitted
- 31 Mar 2005
- Last updated
- 2 Jul 2017
- Results posted
- No
Publications
Glass RB, Astrin KH, Norton KI, Parsons R, Eng CM, Banikazemi M, Desnick RJ. Fabry disease: renal sonographic and magnetic resonance imaging findings in affected males and carrier females with the classic and cardiac variant phenotypes. J Comput Assist Tomogr. 2004 Mar-Apr;28(2):158-68. doi: 10.1097/00004728-200403000-00002.
PubMed 15091117
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
- A Study to Collect Normative Data on Fabry Disease Patients With Enhanceable Alpha-Galactosidase A Activity
- ClinicalTrials.gov ID
- NCT00106912
- Acronym / sponsor ID
- 050129
- Conditions
- Fabry Disease
- Keywords
- Genetic, Stroke, Heart, Lysosomal, Glycolipid, Fabry Disease
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 35 participants
- Lead sponsor
- National Institute of Neurological Disorders and Stroke (NINDS)US National Institutes of Health
- Study start
- 28 Mar 2005
- Study completion
- 27 Mar 2008
- First posted
- 1 Apr 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.
This study will collect data needed to design a treatment trial for patients with Fabry disease using the experimental drug AT-1001. Fabry disease is an inherited metabolic disorder in which an enzyme called alpha-galactosidase A, which normally breaks down fatty substances called glycolipids, is missing or does not function properly. As a result, glycolipids accumulate in various tissues, causing liver, kidney, nerves, skin, muscle and blood vessel problems. No treatment is given in this survey study.
Males 18 years of age and older with Fabry disease who have certain genetic mutations associated with enhancement of alpha-galactosidase A activity may be eligible for this study. Participants undergo the following tests and procedures over 5 days:
Day 1
Medical history and physical examination, blood tests, electrocardiogram (EKG), routine urinalysis, measurements of height, weight, and vital signs (blood pressure, heart rate, breathing rate, and temperature).
Day 2
Blood tests, 24-hour urine collection, vital signs and sweat test. The sweat test (also called QSART, or quantitative sudomotor axon reflex test) measures the amount of sweat in a particular area of skin. A small amount of medication called acetylcholine is put on an area of the skin and a small electric current is applied to stimulate the sweat glands.
Day 3
Blood tests, 24-hour urine collection, vital signs, and skin biopsy. For the skin biopsy, a small area of skin is numbed and a punch device is used to remove a 3-mm (1/8-inch) layer of skin for microscopic examination.
Day 4
Blood tests, 24-hour urine collection, vital signs, and QSART.
Day 5
Blood tests and vital signs.
In addition to the above, patients are scheduled at some point in the 5-day study for an eye examination, brain magnetic resonance angiogram (MRA), and a heart examination and echocardiogram. MRA uses a strong magnetic field and radio waves to provide images of the blood vessels in the head and neck. It can detect abnormalities such as aneurysms, vessel malformations, and thickening of the vessel walls. An echocardiogram is an ultrasound test that shows how well the heart pumps blood and if there is thickening of the heart muscle.
Patients who are taking enzyme replacement therapy discontinue treatment for up to 6 weeks (no more than two missed infusions) to allow accurate measurement of the amount of alpha-galactosidase A the patient's body produces by itself. They provide weekly blood samples between the time they stop treatment and enter the study. The samples are used to monitor the removal of the enzyme from the body and the possible buildup of Gb(3) in the blood.
Detailed description
This protocol is designed to characterize the clinical and laboratory profile of patients with Fabry disease who have residual levels of Alpha-galactosidase (Alpha- Gal A) activity. Normally these are patients with the later onset or milder forms of the disease, sometimes referred to as the cardiac and/or renal variants. Enzyme Enhancement Therapy is a novel therapeutic approach to treatment of lysosomal storage diseases that has recently been proposed, for patients who produce low levels of endogenous enzyme. We plan to evaluate this therapy in later-onset Fabry disease patients and in preparation we need to develop sensitive outcome measures for this subset of patients. Thirty patients with enhanceable Alpha- Gal A activity will be recruited. If on enzyme replacement therapy, they will be asked to miss up to two biweekly infusions. These patients, along with five control patients with non-enhanceable(classic) Fabry disease, will undergo a comprehensive five day evaluation at the NIH Clinical Center that will include a complete physical examination, functional studies of the heart, eye, kidney and sweat function, imaging of the brain and the heart and a number of blood and urine tests, as well as a skin biopsy.
Study design
Who may qualify
- Ages
- 18 years and older
- Sex
- Male only
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
Key inclusion criteria (2 listed)
- Age 18 and older males
- Patients will be included if they possess an Alpha-Gal A mutation that in previous investigations has been associated with enhancement of enzyme activity, as judged by the Principal Investigator.
Key exclusion criteria (6 listed)
- Patients whose general health prevents them from participating.
- Patients with significant disease unrelated to Fabry disease (e.g. diabetes, cancer).
- Patients who refuse to sign the informed consent form or who are unable to travel to the NIH Clinical Center.
- Patients who are currently participating in a clinical trial of small molecule or gene therapy for Fabry disease.
- Patients who are currently participating in a clinical trial for any condition other than Fabry disease.
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 15091117Glass RB, Astrin KH, Norton KI, Parsons R, Eng CM, Banikazemi M, Desnick RJ. Fabry disease: renal sonographic and magnetic resonance imaging findings in affected males and carrier females with the classic and cardiac variant phenotypes. J Comput Assist Tomogr. 2004 Mar-Apr;28(2):158-68. doi: 10.1097/00004728-200403000-00002.
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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 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 2 inclusion and 6 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 NCT00106912, 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.