Fabry DiseaseRWE-FABRYNCT06303466
Real World Evidence Study of Danish Fabry Patients
An observational study of Fabry Disease, run by Caroline Michaela Kistorp at 1 site in Denmark.
Trial summary
Fabry is a rare X-linked metabolic lysosomal disorder caused by deficiency in the enzyme α-galactosidase A (alpha-Gal A) by mutations in the GLA gene, encoding the alpha-Gal A enzyme, which catalyses glycosphingolipids, namely globotriaosylceramide (Gb3). Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Fabry Disease
- How many people
- 115 participants
- Where
- 1 siteDenmark
- Study dates
- 1 Aug 2023to 31 Dec 2024
- 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
- No healthy volunteers
- Adult, Older adult
Study population: All patients having been assessed for Fabry Disease in Denmark
Who may be able to join
- Genetically-verified Fabry disease
- Age above or equal to 18
Who cannot join
None listed.
Trial locations and contacts
1 site in 1 country.
About this study
Official title: Real World Evidence Study of Danish Fabry Patients: a >20- Year Longitudinal Retrospective Analysis of Prospectively Collected Data.
Fabry is a rare X-linked metabolic lysosomal disorder caused by deficiency in the enzyme α-galactosidase A (alpha-Gal A) by mutations in the GLA gene, encoding the alpha-Gal A enzyme, which catalyses glycosphingolipids, namely globotriaosylceramide (Gb3). Reduced or absent alpha-Gal A activity leads to accumulation of Gb3 in various organs as well as cellular dysfunction and inflammation causing phsyical symptoms and eventual organ failure. Treatment has been available since 2001 for Fabry patients - first enzyme replacement therapy and since 2016, an oral chaperone therapy, Migalastat. Although the initial trials of Migalastat had some both short and extended outcome treatment comparisons, the overall evidence of clinical efficacy is based on too small numbers considering the heterogeneity of the Fabry patient population as well as the very slow progression of the disease. Though the body of real-world evidence is growing, there is a need for more publications of real-world long-term data on clinical outcomes with a focus on treatment with Migalastat.
Research Question:
Read more
Is the incidence and prevalence of Fabry associated clinical events (FACEs) (cardiac, renal, and cerebrovascular) associated with sex, genotype, phenotype at time of diagnosis, biomarkers, and Fabry specific therapy?
Objectives:
- To investigate time to first Fabry associated clinical events (FACE) (cardiac, renal, and cerebrovascular) with particular focus on Migalastat clinical outcomes and treatment outcomes preceding Migalastat therapy.
- To investigate the incidence and prevalence of FACEs with respect to Fabry specific treatment, Migalastat, ERT or no treatment.
- To describe FACEs in accordance with different geno- and phenotypic groups.
- To investigate the incidence and time to a first fatal or non-fatal cardiac, renal, and cerebrovascular clinical event, separated by each category.
Primary outcomes - Time to first FACE (cardiac, renal, and cerebrovascular) with particular focus on Migalastat on clinical outcomes and treatment outcomes preceding Migalastat therapy.
Secondary outcomes
- To investigate the incidence and prevalence of FACEs with respect to Fabry specific treatment, Migalastat, ERT or no treatment.
- To describe FACEs in accordance with different geno- and phenotypic groups To investigate the incidence and time to a first fatal or non-fatal cardiac, renal and cerebrovascular clinical event, separated by each category.
Exploratory outcomes
- To describe disease progression with focus on organ involvement.
The study design is a retrospective clinical and paraclinical follow-up of the Danish National Fabry cohort in the period 01.01.2001-31.12.2022. Patient followed a structured yearly monitoring program as part of routine clincal care.
- Conditions
- Fabry Disease
- Keywords
- Cardiovascular Diseases, Renal Disease, Cerebrovascular disease
- Medical subject headings
- Fabry Disease, Cardiovascular Diseases, Kidney Diseases, Cerebrovascular Disorders
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Danish Fabry Patients | Patients with a genetically-verified diagnosis of Fabry Disease. |
What is being measured
The primary outcome is the main question the study is designed to answer.
Time to first individual FACE since confirmed diagnosis (Composite endpoint)
Time to first FACE (cardiac, renal, and cerebrovascular) with particular focus on Migalastat on clinical outcomes and treatment outcomes preceding Migalastat therapy.
Measured: 10 years post baseline
Time to first FACE after initiation of Migalastat treatment (Composite endpoint)
Time to first FACE (cardiac, renal, and cerebrovascular) with particular focus on Migalastat on clinical outcomes and treatment outcomes preceding Migalastat therapy.
Measured: 5 years post baseline
Secondary outcomes (24)
Time to first individual FACE since confirmed diagnosis (cardiac)
Time to first individual FACE (cardiac) with particular focus on Migalastat on clinical outcomes and treatment outcomes preceding Migalastat therapy.
Measured: 10 years post baseline
Time to first individual FACE after initiation of Migalastat treatment (cardiac)
Time to first individual FACE (cardiac) with particular focus on Migalastat on clinical outcomes and treatment outcomes preceding Migalastat therapy.
Measured: 5 years post baseline
Time to first individual FACE since confirmed diagnosis (renal)
Time to first individual FACE (renal) with particular focus on Migalastat on clinical outcomes and treatment outcomes preceding Migalastat therapy.
Measured: 10 years post baseline
Time to first individual FACE after initiation of Migalastat treatment (renal)
Time to first individual FACE (renal) with particular focus on Migalastat on clinical outcomes and treatment outcomes preceding Migalastat therapy.
Measured: 5 years post baseline
Time to first individual FACE after initiation of Migalastat treatment (cerebrovascular)
Time to first individual FACE (cerebrovascular) with particular focus on Migalastat on clinical outcomes and treatment outcomes preceding Migalastat therapy.
Measured: 5 years post baseline
Time to first individual FACE since confirmed diagnosis (cerebrovascular)
Time to first individual FACE (cerebrovascular) with particular focus on Migalastat on clinical outcomes and treatment outcomes preceding Migalastat therapy.
Measured: 10 years post baseline
Prevalence of FACE since confirmed diagnosis
The prevalence of FACEs since confirmed diagnosis
Measured: 20 years post baseline
Prevalence of FACE after initiation of Fabry-specific treatment
The prevalence of FACEs after initiation of Fabry-specific treatment
Measured: 5 years post baseline
Incidence of FACE since confirmed diagnosis
The incidence of FACEs since confirmed diagnosis
Measured: 20 years post baseline
Incidence of FACE after initiation of Fabry-specific treatment
The incidence of FACEs after initiation of Fabry-specific treatment
Measured: 5 years post baseline
Incidence of cardiac events since confirmed diagnosis
Incidence of cardiac, cerebrovascular, and renal clinical events separately by each specific category
Measured: 20 years post baseline
Incidence of renal events since confirmed diagnosis
Incidence of cardiac, cerebrovascular, and renal clinical events separately by each specific category
Measured: 20 years post baseline
Incidence of cerebrovascular events since confirmed diagnosis
Incidence of cardiac, cerebrovascular, and renal clinical events separately by each specific category
Measured: 20 years post baseline
Incidence of cardiac events after initiation of Fabry-specific treatment
Incidence of cardiac, cerebrovascular, and renal clinical events separately by each specific category
Measured: 5 years post baseline
Incidence of renal events after initiation of Fabry-specific treatment
Incidence of cardiac, cerebrovascular, and renal clinical events separately by each specific category
Measured: 5 years post baseline
Incidence of cerebrovascular events after initiation of Fabry-specific treatment
Incidence of cardiac, cerebrovascular, and renal clinical events separately by each specific category
Measured: 5 years post baseline
Annualized rate of change in eGFR by CKDEPI-formula since initiation of treatment
Annualized rate of change in eGFR based on the Chronic Kidney Disease Epidemiology Collaboration equation (eGFRCKD-EPI) over time to compare between Migalastat-treated, ERT, and untreated patients
Measured: 20 years post baseline
Annualized rate of change in eGFR by CKDEPI-formula after initiation of Fabry-specific treatment
Annualized rate of change in eGFR based on the Chronic Kidney Disease Epidemiology Collaboration equation (eGFRCKD-EPI) over time to compare between Migalastat-treated, ERT, and untreated patients
Measured: 5 years post baseline
Rapid renal progression of disease since confirmed diagnosis
Prevalence of clinically significant change in mGFR or eGFR defined as rapid progression (Using the KDIGO guidelines ie. sustained decline in GFR by 5 mL/min/1.73 m2/yr) since confirmed diagnosis.
Measured: 20 years post baseline
Rapid renal progression of disease after initiation of Fabry-specific treatment
Prevalence of clinically significant change in mGFR or eGFR defined as rapid progression (Using the KDIGO guidelines ie. sustained decline in GFR by 5 mL/min/1.73 m2/yr) after initiation for Fabry-specific treatment.
Measured: 5 years post baseline
Incidence of albuminuria since confirmed diagnosis
The incidence of albuminuria; defined as micro (> 30 mg/g creatinine) or macroalbuminuria (>300) by urinary albumin/creatinine ratio (ACR) or urinary 24 h protein excretion.
Measured: 20 years post baseline
Incidence of albuminuria after initiation of Fabry-specific treatment
The incidence of albuminuria; defined as micro (> 30 mg/g creatinine) or macroalbuminuria (>300) by urinary albumin/creatinine ratio (ACR) or urinary 24 h protein excretion.
Measured: 5 years post baseline
Prevalence of albuminuria since confirmed diagnosis
The prevalence of albuminuria; defined as micro (> 30 mg/g creatinine) or macroalbuminuria (>300) by urinary albumin/creatinine ratio (ACR) or urinary 24 h protein excretion.
Measured: 20 years post baseline
Prevalence of albuminuria after initiation of Fabry-specific treatment
The prevalence of albuminuria; defined as micro (> 30 mg/g creatinine) or macroalbuminuria (>300) by urinary albumin/creatinine ratio (ACR) or urinary 24 h protein excretion.
Measured: 5 years post baseline
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted12 Mar 2024
- Study start1 Aug 2023
- Primary completion1 Aug 2024 (estimated)
- Study completion31 Dec 2024 (estimated)
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
- Observational model
- Cohort
- Time perspective
- Retrospective
- Enrolment
- 115 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Caroline Michaela Kistorp
- Sponsor type
- University, hospital or other
- Collaborators
- Amicus Therapeutics, Copenhagen University Hospital, Rigshospitalet
- Responsible party
- Sponsor-investigator, Caroline Michaela Kistorp, Copenhagen University Hospital, Rigshospitalet
- Investigators
- Caroline M Kistorp, MD, Ph.D, Principal investigator, Copenhagen University Hospital, Rigshospitalet
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06303466
- Sponsor's protocol ID
- R-23053109
- Acronym
- RWE-FABRY
- Status last verified
- Mar 2024
- First submitted
- 14 Feb 2024
- Last updated
- 12 Mar 2024
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No: Due to national legistlative restrictions, unrestricted access to individual participant data is not possible. However, data exchange will be possible upon reasonable request under the assurance of data-management in accordance with Danish law.
Study at a glance
From the registry record, last updated by the sponsor on 12 Mar 2024. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Real World Evidence Study of Danish Fabry Patients: a >20- Year Longitudinal Retrospective Analysis of Prospectively Collected Data.
- ClinicalTrials.gov ID
- NCT06303466
- Acronym / sponsor ID
- RWE-FABRY / R-23053109
- Conditions
- Fabry Disease
- Keywords
- Cardiovascular Diseases, Renal Disease, Cerebrovascular disease
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 115 participants (estimated)
- Lead sponsor
- Caroline Michaela KistorpUniversity, hospital or other
- Collaborators
- Amicus Therapeutics, Copenhagen University Hospital, Rigshospitalet
- Study start
- 1 Aug 2023 (actual)
- Primary completion
- 1 Aug 2024 (estimated)
- Study completion
- 31 Dec 2024 (estimated)
- First posted
- 12 Mar 2024 (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.
Fabry is a rare X-linked metabolic lysosomal disorder caused by deficiency in the enzyme α-galactosidase A (alpha-Gal A) by mutations in the GLA gene, encoding the alpha-Gal A enzyme, which catalyses glycosphingolipids, namely globotriaosylceramide (Gb3). Reduced or absent alpha-Gal A activity leads to accumulation of Gb3 in various organs as well as cellular dysfunction and inflammation causing phsyical symptoms and eventual organ failure. Treatment has been available since 2001 for Fabry patients - first enzyme replacement therapy and since 2016, an oral chaperone therapy, Migalastat. Although the initial trials of Migalastat had some both short and extended outcome treatment comparisons, the overall evidence of clinical efficacy is based on too small numbers considering the heterogeneity of the Fabry patient population as well as the very slow progression of the disease. Though the body of real-world evidence is growing, there is a need for more publications of real-world long-term data on clinical outcomes with a focus on treatment with Migalastat.
Research Question:
Is the incidence and prevalence of Fabry associated clinical events (FACEs) (cardiac, renal, and cerebrovascular) associated with sex, genotype, phenotype at time of diagnosis, biomarkers, and Fabry specific therapy?
Objectives:
- To investigate time to first Fabry associated clinical events (FACE) (cardiac, renal, and cerebrovascular) with particular focus on Migalastat clinical outcomes and treatment outcomes preceding Migalastat therapy.
- To investigate the incidence and prevalence of FACEs with respect to Fabry specific treatment, Migalastat, ERT or no treatment.
- To describe FACEs in accordance with different geno- and phenotypic groups.
- To investigate the incidence and time to a first fatal or non-fatal cardiac, renal, and cerebrovascular clinical event, separated by each category.
Primary outcomes - Time to first FACE (cardiac, renal, and cerebrovascular) with particular focus on Migalastat on clinical outcomes and treatment outcomes preceding Migalastat therapy.
Secondary outcomes
- To investigate the incidence and prevalence of FACEs with respect to Fabry specific treatment, Migalastat, ERT or no treatment.
- To describe FACEs in accordance with different geno- and phenotypic groups To investigate the incidence and time to a first fatal or non-fatal cardiac, renal and cerebrovascular clinical event, separated by each category.
Exploratory outcomes
- To describe disease progression with focus on organ involvement.
The study design is a retrospective clinical and paraclinical follow-up of the Danish National Fabry cohort in the period 01.01.2001-31.12.2022. Patient followed a structured yearly monitoring program as part of routine clincal care.
Study design
- Observational model
- Cohort
- Time perspective
- Retrospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Danish Fabry Patients | – | –Patients with a genetically-verified diagnosis of Fabry Disease. |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- All patients having been assessed for Fabry Disease in Denmark
Key inclusion criteria (2 listed)
- Genetically-verified Fabry disease
- Age above or equal to 18
Key exclusion criteria (0 listed)
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
Time to first individual FACE since confirmed diagnosis (Composite endpoint)
Time frame: 10 years post baseline
Time to first FACE (cardiac, renal, and cerebrovascular) with particular focus on Migalastat on clinical outcomes and treatment outcomes preceding Migalastat therapy.
Time to first FACE after initiation of Migalastat treatment (Composite endpoint)
Time frame: 5 years post baseline
Time to first FACE (cardiac, renal, and cerebrovascular) with particular focus on Migalastat on clinical outcomes and treatment outcomes preceding Migalastat therapy.
24 secondary outcomes
Time to first individual FACE since confirmed diagnosis (cardiac)
Time frame: 10 years post baseline
Time to first individual FACE after initiation of Migalastat treatment (cardiac)
Time frame: 5 years post baseline
Time to first individual FACE since confirmed diagnosis (renal)
Time frame: 10 years post baseline
Time to first individual FACE after initiation of Migalastat treatment (renal)
Time frame: 5 years post baseline
Time to first individual FACE after initiation of Migalastat treatment (cerebrovascular)
Time frame: 5 years post baseline
Time to first individual FACE since confirmed diagnosis (cerebrovascular)
Time frame: 10 years post baseline
Prevalence of FACE since confirmed diagnosis
Time frame: 20 years post baseline
Prevalence of FACE after initiation of Fabry-specific treatment
Time frame: 5 years post baseline
Incidence of FACE since confirmed diagnosis
Time frame: 20 years post baseline
Incidence of FACE after initiation of Fabry-specific treatment
Time frame: 5 years post baseline
Incidence of cardiac events since confirmed diagnosis
Time frame: 20 years post baseline
Incidence of renal events since confirmed diagnosis
Time frame: 20 years post baseline
Incidence of cerebrovascular events since confirmed diagnosis
Time frame: 20 years post baseline
Incidence of cardiac events after initiation of Fabry-specific treatment
Time frame: 5 years post baseline
Incidence of renal events after initiation of Fabry-specific treatment
Time frame: 5 years post baseline
Incidence of cerebrovascular events after initiation of Fabry-specific treatment
Time frame: 5 years post baseline
Annualized rate of change in eGFR by CKDEPI-formula since initiation of treatment
Time frame: 20 years post baseline
Annualized rate of change in eGFR by CKDEPI-formula after initiation of Fabry-specific treatment
Time frame: 5 years post baseline
Rapid renal progression of disease since confirmed diagnosis
Time frame: 20 years post baseline
Rapid renal progression of disease after initiation of Fabry-specific treatment
Time frame: 5 years post baseline
Incidence of albuminuria since confirmed diagnosis
Time frame: 20 years post baseline
Incidence of albuminuria after initiation of Fabry-specific treatment
Time frame: 5 years post baseline
Prevalence of albuminuria since confirmed diagnosis
Time frame: 20 years post baseline
Prevalence of albuminuria after initiation of Fabry-specific treatment
Time frame: 5 years post baseline
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 12 Mar 2024.
- Individual participant dataSharing planned: No. Due to national legistlative restrictions, unrestricted access to individual participant data is not possible. However, data exchange will be possible upon reasonable request under the assurance of data-management in accordance with Danish law.
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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.
Caroline M Kistorp, MD, Ph.D principal investigator
Copenhagen University Hospital, Rigshospitalet
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 Caroline Michaela Kistorp 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 2 inclusion and 0 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: status not confirmed, as of the sponsor's last update on 12 Mar 2024. 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?
Results are not available in the source record.
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?
Time to first individual FACE since confirmed diagnosis (Composite endpoint) (time frame: 10 years post baseline). The study lists 2 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 12 Mar 2024.