Fabry DiseaseNCT03145779
Evaluation of Phenotypic Variability in Fabry Disease
An observational study of Fabry Disease, run by Boston Children's Hospital at 1 site in United States.
Trial summary
Cerebrovascular events, such as stroke, are a devastating complication of Fabry disease that results in part from storage of complex lipids in both large and small vessels. Understanding how the genotype influences the phenotype or clinical presentation can help us understand which patients are at risk for the… Read more about this study
- Who is it for?
- Ages 1 year and older
- Conditions the study is for
- Fabry Disease
- How many people
- 0 participants
- Where
- 1 siteUnited States
- Study dates
- Jul 2020to Jul 2030
- 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 1 year and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Patients with a diagnosis of Fabry disease.
Who may be able to join
- Individuals who carry a classic alpha-galactosidase gene (GLA) mutation
- All ages
- Medical records available including previous genetic testing.
- Capable of providing informed consent with assent for patients less than 18 years
- Not currently involved in any other clinical trials.
Who cannot join
- No medical records available
- No record of genotype
- Not capable of providing informed consent
- Currently involved in any clinical trial
Trial locations and contacts
1 site in 1 country.
United States1 site
Boston Children's Hospital
Boston, Massachusetts, 02115
About this study
Cerebrovascular events, such as stroke, are a devastating complication of Fabry disease that results in part from storage of complex lipids in both large and small vessels. Understanding how the genotype influences the phenotype or clinical presentation can help us understand which patients are at risk for the complications of Fabry disease. This study aims to follow the natural history of this disease will help us understand and predict long-term outcomes for patients.
Read the detailed description
This longitudinal study will be conducted at Boston Children's Hospital (BCH). Subjects recruited for the study will have routine clinical care assessment with a complete physical and neurological exam and biochemical monitoring with venipuncture. In addition as part of the study, subjects will be given questionnaires to assess details of medical and psychosocial history, will complete self-reported measures of neuropsychological evaluation, pain scores, quality of life, executive functioning and cognitive functioning. All patients assessments will be repeated every 2 years.
- Conditions
- Fabry Disease
- Medical subject headings
- Fabry Disease
What is being measured
The primary outcome is the main question the study is designed to answer.
Globotriaosylceramide level, plasma
Biomarker for deficiency of alpha-galactosidase A (GLA) activity measured to determine if there are changes over time.
Measured: Data will be obtained and studied every 2 years for up to 10 years.
Globotriaosylceramide level, urine
Biomarker for deficiency of alpha-galactosidase A (GLA) activity measured to determine if there are changes over time.
Measured: Data will be obtained and studied every 2 years for up to 10 years.
Intelligence scale assessment
Wechsler Adult Intelligence Scale - Revised (WAIS-R) to assess for any changes in intelligence scale over time.
Measured: Data will be obtained and studied every 2 years for up to 10 years.
Quality of life questionnaire
Single score based on questionnaire about quality of life to assess for any changes in scores over time.
Measured: Data will be obtained and studied every 2 years for up to 10 years.
Executive functioning test
Single score based on testing of digit span backwards test, letter fluency, and category fluency to assess any changes in executive function over time.
Measured: Data will be obtained and studied every 2 years for up to 10 years.
Pain questionnaire
Single score based on questionnaire about pain to evaluate progression of pain scores over time.
Measured: Data will be obtained and studied every 2 years for up to 10 years.
Physical exam
Physical exam to evaluate for the development of angiokeratoma lesions and neurological symptoms development over time.
Measured: Data will be obtained and studied every 2 years for up to 10 years.
Secondary outcomes (4)
Transcriptome analysis
High-throughput RNA sequencing will be done on plasma and peripheral blood lymphocytes to evaluate for changes over time.
Measured: Data will be obtained and studied every 2 years for up to 10 years.
Metabolomic analysis
Comprehensive metabolite mapping of biochemical pathways to determine any metabolomic pathway changes in Fabry disease patients over time.
Measured: Data will be obtained and studied every 2 years for up to 10 years.
Microbiome analysis
Optional stool sample will be obtained for microbiome analysis to detect the microbiome progression over time in Fabry disease patients.
Measured: Data will be obtained and studied every 2 years for up to 10 years.
Targeted exome sequencing for evaluation of potential modifiers of Fabry disease phenotype.
Investigators will analyze sequencing results to determine the ability of whole exome sequencing to detect pathogenic modifiers of the Fabry disease phenotype.
Measured: Data will be obtained one time at initial study visit
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted9 May 2017
- Study startJul 2020 (estimated)
- Primary completionJul 2030 (estimated)
- Study completionJul 2030 (estimated)
Why it stopped: Funding
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.
- More trials run by Boston Children's HospitalThe 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
- Observational model
- Case only
- Time perspective
- Prospective
- Enrolment
- 0 participants (actual)
Sponsor and investigators
- Lead sponsor
- Boston Children's Hospital
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Farrah Rajabi, Boston Children's Hospital
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03145779
- Sponsor's protocol ID
- IRB-P00022060
- Status last verified
- Dec 2020
- First submitted
- 3 May 2017
- Last updated
- 3 Dec 2020
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 3 Dec 2020. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Evaluation of Phenotypic Variability in Fabry Disease
- ClinicalTrials.gov ID
- NCT03145779
- Acronym / sponsor ID
- IRB-P00022060
- Conditions
- Fabry Disease
- Study type
- Observational
- Recruitment status
- WithdrawnReason stopped: Funding
- Enrolment
- 0 participants (actual)
- Lead sponsor
- Boston Children's HospitalUniversity, hospital or other
- Study start
- Jul 2020 (estimated)
- Primary completion
- Jul 2030 (estimated)
- Study completion
- Jul 2030 (estimated)
- First posted
- 9 May 2017 (actual)
- 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.
Cerebrovascular events, such as stroke, are a devastating complication of Fabry disease that results in part from storage of complex lipids in both large and small vessels. Understanding how the genotype influences the phenotype or clinical presentation can help us understand which patients are at risk for the complications of Fabry disease. This study aims to follow the natural history of this disease will help us understand and predict long-term outcomes for patients.
Detailed description
This longitudinal study will be conducted at Boston Children's Hospital (BCH). Subjects recruited for the study will have routine clinical care assessment with a complete physical and neurological exam and biochemical monitoring with venipuncture. In addition as part of the study, subjects will be given questionnaires to assess details of medical and psychosocial history, will complete self-reported measures of neuropsychological evaluation, pain scores, quality of life, executive functioning and cognitive functioning. All patients assessments will be repeated every 2 years.
Study design
- Observational model
- Case only
- Time perspective
- Prospective
Who may qualify
- Ages
- 1 year and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Patients with a diagnosis of Fabry disease.
Key inclusion criteria (5 listed)
- Individuals who carry a classic alpha-galactosidase gene (GLA) mutation
- All ages
- Medical records available including previous genetic testing.
- Capable of providing informed consent with assent for patients less than 18 years
- Not currently involved in any other clinical trials.
Key exclusion criteria (4 listed)
- No medical records available
- No record of genotype
- Not capable of providing informed consent
- Currently involved in any clinical trial
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
Globotriaosylceramide level, plasma
Time frame: Data will be obtained and studied every 2 years for up to 10 years.
Biomarker for deficiency of alpha-galactosidase A (GLA) activity measured to determine if there are changes over time.
Globotriaosylceramide level, urine
Time frame: Data will be obtained and studied every 2 years for up to 10 years.
Biomarker for deficiency of alpha-galactosidase A (GLA) activity measured to determine if there are changes over time.
Intelligence scale assessment
Time frame: Data will be obtained and studied every 2 years for up to 10 years.
Wechsler Adult Intelligence Scale - Revised (WAIS-R) to assess for any changes in intelligence scale over time.
Quality of life questionnaire
Time frame: Data will be obtained and studied every 2 years for up to 10 years.
Single score based on questionnaire about quality of life to assess for any changes in scores over time.
Executive functioning test
Time frame: Data will be obtained and studied every 2 years for up to 10 years.
Single score based on testing of digit span backwards test, letter fluency, and category fluency to assess any changes in executive function over time.
Pain questionnaire
Time frame: Data will be obtained and studied every 2 years for up to 10 years.
Single score based on questionnaire about pain to evaluate progression of pain scores over time.
Physical exam
Time frame: Data will be obtained and studied every 2 years for up to 10 years.
Physical exam to evaluate for the development of angiokeratoma lesions and neurological symptoms development over time.
4 secondary outcomes
Transcriptome analysis
Time frame: Data will be obtained and studied every 2 years for up to 10 years.
Metabolomic analysis
Time frame: Data will be obtained and studied every 2 years for up to 10 years.
Microbiome analysis
Time frame: Data will be obtained and studied every 2 years for up to 10 years.
Targeted exome sequencing for evaluation of potential modifiers of Fabry disease phenotype.
Time frame: Data will be obtained one time at initial study visit
Results and safety
The study was withdrawn before enrolling participants, so there are no results.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 3 Dec 2020.
- Individual participant dataSharing planned: No
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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 Boston Children's Hospital 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 5 inclusion and 4 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: withdrawn, as of the sponsor's last update on 3 Dec 2020. 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 was withdrawn before enrolling participants, so there are no results.
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.
What does the primary outcome measure?
Globotriaosylceramide level, plasma (time frame: Data will be obtained and studied every 2 years for up to 10 years.). The study lists 7 primary outcomes in all. It is what the study was designed to measure, not a finding.
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 3 Dec 2020.