Fabry DiseaseNCT05056636
Epidemiological Study of Fabry Disease Screening in Chronic Kidney Disease Patients
An observational study of Fabry Disease, run by Chang Gung Memorial Hospital at 1 site in Taiwan.
Trial summary
Fabry disease is a rare X-linked lysosomal storage disorder caused by deficient activity of the enzyme α-Gal A resulting from mutations affecting the GLA gene. It is characterized by severe multi-systemic involvement that leads to major organ failure and premature death in affected men and in some women. Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Fabry Disease
- What is being tested?
- Plasma α-Gal A activity; Plasma Lyso-GB3; GLA genetic sequencing.
- How many people
- 2,000 participants
- Where
- 1 siteTaiwan
- Study dates
- 1 Jun 2018to 31 Dec 2022
- 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: 2000 Chronic Kidney Disease patient
Who may be able to join
- Patient age ≥ 18 y/o (No age limit due to cardiac variant Fabry IVS4 in Taiwan symptom of onset could be beyond 60 y/o)
- Patient with confirmed chronic kidney disease (CKD 1~5) diagnosis whose urine protein/creatinine (UPCR) is 150mg/g or above, or urine albumin/creatinine (ACR) is 30mg/g or above.
- Patient who are willing to sign inform consent form
Who cannot join
- Patient who are unwilling to sign inform consent form
- Patient who received confirmed diagnosis of Fabry Disease
- Patient with known etiology of renal failure diagnosed with renal biopsy.
Trial locations and contacts
1 site in 1 country.
Yichun Lin contact
Taiwan1 site, 1 recruiting
- Recruiting
Chang Gung Memory Hospital
Kaohsiung City
Yichun Lin, lovestar0516@gmail.com
About this study
Fabry disease is a rare X-linked lysosomal storage disorder caused by deficient activity of the enzyme α-Gal A resulting from mutations affecting the GLA gene.
It is characterized by severe multi-systemic involvement that leads to major organ failure and premature death in affected men and in some women. The α-Gal A deficiency results in progressive accumulation of un-degraded glycosphingolipids, predominantly globotriaosylceramide (Gb3), within cell lysosomes throughout the body.
Read more
In patients at the second or third decade, progressive proteinuria, decline in glomerular filtration rate (GFR), and tubular damage occur usually, and renal failure develops in the fourth decade. Life-threatening renal, cardiac, and cerebrovascular diseases are added in later decades.
In addition to that, Fabry disease patient will eventually face end-stage renal disease (ESRD) which was the most common cause of death in Fabry patients before the development of dialysis and renal transplantation. Thus it is critical to identify Fabry patient as early as possible, before reaching the stage of ESRD.
Additionally, early intervention of enzyme replacement therapy for Fabry Disease patient which will help the patient to preserve a better renal function and benefit from treatment outcome.
Apart from that today there is only one study published from Turkey for Fabry disease screening in CKD patient where they have screened 1453 and found that the overall prevalence of Fabry disease in CKD patient was found to be 0.2% , 3/1453 (in which 0.4% in 656 male, 0.0% in 783 female). However, there was no information available within the Asia region thereby a very low Fabry disease awareness and diagnostic awareness among nephrologist in Taiwan.
Therefore in the present study the investigators are aiming to investigate the prevalence of Fabry disease in the CKD population (CKD stage 1 ~ 5) by conducting the first and largest high risk screening prevalence study among 2,000 CKD patients over 3 years in Taiwan and the investigators hope by doing such a pilot study our data would contribute to a new paradigm of Fabry disease diagnosis in the Asia region.
- Conditions
- Fabry Disease
- Being tested
- Plasma α-Gal A activity; Plasma Lyso-GB3; GLA genetic sequencing.
- Keywords
- high risk screening, Chronic kidney disease
- Medical subject headings
- Fabry Disease, Renal Insufficiency, Chronic
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Plasma α-Gal A activity; Plasma Lyso-GB3; GLA genetic sequencing.Diagnostic test
Screening Visit 1:
- Male patient will first screened by enzymatic assay (Cutoff: 1.3 μM /hr)
- Female patient will first screened by lyso-GB3 (Cutoff: > 5ng/ml)
Screening Visit 2:
If both male and female who has deficient enzymatic level (Cutoff: 1.3 μM /hr) or lyso-GB3 level (Cutoff: > 5ng/ml) respectively, those patients will be confirmed whether they have carried Fabry Disease causing mutation by whom GLA genetic sequencing.
What is being measured
The primary outcome is the main question the study is designed to answer.
Positive screening rate of Fabry Disease patient among CKD population
Identify the prevalence rate of Fabry disease in patients with CKD including dialysis in Taiwan.
Measured: 48 months
Secondary outcomes (1)
Characterization of gene mutation pattern of Fabry patients with CKD in Taiwan
Identify what gene mutation(s) is(are) significant associated with Fabry patients with CKD in Taiwan
Measured: 48 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted24 Sep 2021
- Study start1 Jun 2018
- Primary completion31 Oct 2022 (estimated)
- Study completion31 Dec 2022 (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.
- More trials run by Chang Gung Memorial 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
- 2,000 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Chang Gung Memorial Hospital
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Chien-Hsing Wu, Chang Gung Memorial Hospital
- Investigators
- Chien-Hsing Wu, Principal investigator, Chang Gung Memory Hospital
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05056636
- Sponsor's protocol ID
- GZ201711687
- Status last verified
- Sep 2021
- First submitted
- 31 Aug 2021
- Last updated
- 24 Sep 2021
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 24 Sep 2021. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Epidemiological Study of Fabry Disease Screening in Chronic Kidney Disease Patients
- ClinicalTrials.gov ID
- NCT05056636
- Acronym / sponsor ID
- GZ201711687
- Conditions
- Fabry Disease
- Keywords
- high risk screening, Chronic kidney disease
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 2,000 participants (estimated)
- Lead sponsor
- Chang Gung Memorial HospitalUniversity, hospital or other
- Study start
- 1 Jun 2018 (actual)
- Primary completion
- 31 Oct 2022 (estimated)
- Study completion
- 31 Dec 2022 (estimated)
- First posted
- 24 Sep 2021 (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 disease is a rare X-linked lysosomal storage disorder caused by deficient activity of the enzyme α-Gal A resulting from mutations affecting the GLA gene.
It is characterized by severe multi-systemic involvement that leads to major organ failure and premature death in affected men and in some women. The α-Gal A deficiency results in progressive accumulation of un-degraded glycosphingolipids, predominantly globotriaosylceramide (Gb3), within cell lysosomes throughout the body.
In patients at the second or third decade, progressive proteinuria, decline in glomerular filtration rate (GFR), and tubular damage occur usually, and renal failure develops in the fourth decade. Life-threatening renal, cardiac, and cerebrovascular diseases are added in later decades.
In addition to that, Fabry disease patient will eventually face end-stage renal disease (ESRD) which was the most common cause of death in Fabry patients before the development of dialysis and renal transplantation. Thus it is critical to identify Fabry patient as early as possible, before reaching the stage of ESRD.
Additionally, early intervention of enzyme replacement therapy for Fabry Disease patient which will help the patient to preserve a better renal function and benefit from treatment outcome.
Apart from that today there is only one study published from Turkey for Fabry disease screening in CKD patient where they have screened 1453 and found that the overall prevalence of Fabry disease in CKD patient was found to be 0.2% , 3/1453 (in which 0.4% in 656 male, 0.0% in 783 female). However, there was no information available within the Asia region thereby a very low Fabry disease awareness and diagnostic awareness among nephrologist in Taiwan.
Therefore in the present study the investigators are aiming to investigate the prevalence of Fabry disease in the CKD population (CKD stage 1 ~ 5) by conducting the first and largest high risk screening prevalence study among 2,000 CKD patients over 3 years in Taiwan and the investigators hope by doing such a pilot study our data would contribute to a new paradigm of Fabry disease diagnosis in the Asia region.
Study design
- Observational model
- Case only
- Time perspective
- Prospective
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- 2000 Chronic Kidney Disease patient
Key inclusion criteria (3 listed)
- Patient age ≥ 18 y/o (No age limit due to cardiac variant Fabry IVS4 in Taiwan symptom of onset could be beyond 60 y/o)
- Patient with confirmed chronic kidney disease (CKD 1~5) diagnosis whose urine protein/creatinine (UPCR) is 150mg/g or above, or urine albumin/creatinine (ACR) is 30mg/g or above.
- Patient who are willing to sign inform consent form
Key exclusion criteria (3 listed)
- Patient who are unwilling to sign inform consent form
- Patient who received confirmed diagnosis of Fabry Disease
- Patient with known etiology of renal failure diagnosed with renal biopsy.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Plasma α-Gal A activity; Plasma Lyso-GB3; GLA genetic sequencing.Screening Visit 1: 1. Male patient will first screened by enzymatic assay (Cutoff: 1.3 μM /hr) 2. Female patient will first screened by lyso-GB3 (Cutoff: > 5ng/ml) Screening Visit 2: If both male and female who has deficient enzymatic level (Cutoff: 1.3 μM /hr) or lyso-GB3 level (Cutoff: > 5ng/ml) respectively, those patients will be confirmed whether they have carried Fabry Disease causing mutation by whom GLA genetic sequencing. | Diagnostic test | – |
Primary outcome
Positive screening rate of Fabry Disease patient among CKD population
Time frame: 48 months
Identify the prevalence rate of Fabry disease in patients with CKD including dialysis in Taiwan.
1 secondary outcome
Characterization of gene mutation pattern of Fabry patients with CKD in Taiwan
Time frame: 48 months
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 24 Sep 2021.
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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.
Yichun Lin contact
Chien-Hsing Wu principal investigator
Chang Gung Memory Hospital
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 Chang Gung Memorial Hospital at 1 site in Taiwan.
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 3 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: status not confirmed, as of the sponsor's last update on 24 Sep 2021. 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 Taiwan. 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?
Contact Chien-Hsing Wu, MD (+886975056082, chienhsingwu@gmail.com), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Positive screening rate of Fabry Disease patient among CKD population (time frame: 48 months). 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 24 Sep 2021.