Fabry Disease, Cardiac VariantNCT03222336
Natural History in Fabry Patients With IVS4+919G>A Mutation
An observational study of Fabry Disease, Cardiac Variant, run by Taipei Veterans General Hospital, Taiwan.
Trial summary
Fabry disease is caused by the deficiency or absence of alpha-galactosidase A (α-Gal A) activity, leading to progressive deposition of glycosphingolipids, mainly globotriaosylceramide (Gb3), in the lysosomes of multiple tissues and organs. In Taiwan, Dr. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Fabry Disease, Cardiac Variant
- What is being tested?
- Family pedigree and data collection
- Type of treatment
- Lifestyle or therapy programme
- How many people
- 80 participants
- Where
- No sites listed yet
- Study dates
- 1 Sep 2017to 30 Sep 2020
- 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 Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: This prospective family screening study aim to enrol family members from pre-identified IVS4 female newborn's family. IVS4 female newborn's family member will be invited to join the family screening study with written informed consent prior to any specific study procedure. After written informed consent process, a series of screening examination will be conducted at screening visit which included medical history interview, physical examination, α-Gal A enzyme activity test, genetic test, plasma lyso-GB3, renal function and cardiac function assessment as well as pedigree data analysis for IVS4 family tree mapping.
Who may be able to join
- Fabry IVS4 female newborn family members.
- Patients and/or their legal representatives who are willing to provide written informed consent
Who cannot join
- No blood relatives to the IVS4 female newborn family
Trial locations and contacts
No sites are listed yet.
About this study
Official title: Study of Natural History Among Patients With Chinese Hotspot Late-onset Fabry Mutation IVS4+919G>A Through Family Pedigree Analysis
Fabry disease is caused by the deficiency or absence of alpha-galactosidase A (α-Gal A) activity, leading to progressive deposition of glycosphingolipids, mainly globotriaosylceramide (Gb3), in the lysosomes of multiple tissues and organs. In Taiwan, Dr. Niu first revealed a surprisingly high incidence (approximately one in 1,600 males) of a cardiac variant GLA splicing mutation, IVS4+919G>A, in newborn screening. Patients who carried the IVS4 + 919G > A mutation and were older than 40 years had a higher prevalence of hypertrophic cardiomyopathy. Endocardial biopsy of these patients with hypertrophic cardiomyopathy showed significant Gb3 accumulation in the cardiomyocytes. Although the hotspot IVS4+919G>A mutation is now being observed with greater frequency, understanding of the natural course of cardiac variant Fabry disease with this specific mutation remains limited. Therefore, our study would like to conduct a study to approach the natural history among patients with Chinese hotspot late-onset Fabry mutation IVS4+919G>A through family pedigree analysis.
Read the detailed description
Fabry disease is caused by the deficiency or absence of alpha-galactosidase A (α-Gal A) activity, leading to progressive deposition of glycosphingolipids, mainly globotriaosylceramide (Gb3), in the lysosomes of multiple tissues and organs. The frequency of classic Fabry disease has been estimated as one in 40,000, and its symptoms typically manifest during childhood, including acroparesthesias, angiokeratoma, corneal opacities, and anhidrosis (Desnick et al. 2001; Ries et al. 2005). Originally thought to be less severe in females (Desnick et al. 2001), more recent evidence indicates that symptoms of this X-linked disorder can manifest as severely in females as in males (Mehta et al. 2004; Wilcox et al. 2008), although they generally occur later in life and show greater variation in severity among female patients (Deegan et al. 2006).
Atypical, late-onset phenotypes have been reported that lack these classic symptoms but instead present with cardiac (Nakao et al. 1995), renal (Nakao et al. 2003), or cerebrovascular disease (Brouns et al. 2010). The frequency of atypical Fabry disease is unknown, but it has been suggested to be more common than previously believed (Nakao et al. 1995). In Taiwan, Dr. Niu first revealed a surprisingly high incidence (approximately one in 1,600 males) of a cardiac variant GLA splicing mutation, IVS4+919G>A, in newborn screening (Chong et al. 2008). Affected males with IVS4+919G>A mutation typically lack the angiokeratomas, acroparesthesias, hypohidrosis, gastrointestinal abnormalities and corneal opacities that are characteristic of the classic, early-onset, more severe phenotype and may manifest cardiac disease with LVH leading to HCM in the third to sixth decades of life (Desnick et al. 2001, von Scheidt W, et al. 1991, Nakao et al. 1995, Nakao et al. 2003). In Dr. Niu's study, patients who carried the IVS4 + 919G > A mutation and were older than 40 years had a higher prevalence of hypertrophic cardiomyopathy (72% of males and 35% of females) (Tai et al., 2012). Endocardial biopsy of these patients with hypertrophic cardiomyopathy showed significant Gb3 accumulation in the cardiomyocytes which is the typical pathological change in patient with classical Fabry disease. Lin et al's previous study (Lin et al. 2010) showed that a high proportion of adults (>40 years of age) carrying the IVS4 +919G>A mutation experienced microalbuminuria and retinal vessel tortuosity, but symptoms involving these organs were very mild and did not cause significant morbidity. Although the hotspot IVS4+919G>A mutation is now being observed with greater frequency, understanding of the natural course of cardiac variant Fabry disease with this specific mutation remains limited.
Primary objective :
- To map the IVS4 family tree and identify obligate carriers with Chinese hotspot late-onset Fabry mutation IVS4+919G>A through pedigree analysis.
- To explore and enhance the understanding of the clinical manifestation, disease severity and natural history of patient with Chinese hotspot late-onset Fabry mutation IVS4+919G>A in Taiwan.
Primary End Point :
- Completeness of IVS4 family tree mapping and obligate carrier identification within their family pedigree.
Definition of family tree completeness:
- Enroll first generation (newborn), at least one member from second (parent) and third generation (grandparent) for a complete IVS4 family tree mapping.
Secondary endpoint :
- Collect and analyze medical history, genetic and biochemical assessment data. Perform eGFR and albumin to creatinine ratio (ACR) measurement for renal function assessment, Perform echocardiography and electrocardiography for cardiac function assessment.
- Conditions
- Fabry Disease, Cardiac Variant
- Being tested
- Family pedigree and data collection
- Medical subject headings
- Fabry Disease, Cardiac Variant
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Family pedigree and data collectionBehavioural
- Enroll first generation (newborn), at least one member from second (parent) and third generation (grandparent) for a complete IVS4 family tree mapping.
- Collect and analyze medical history, genetic and biochemical assessment data
What is being measured
The primary outcome is the main question the study is designed to answer.
Completeness of IVS4 family tree mapping and obligate carrier identification within their family pedigree
Measured: First patient in : 30-Sep-2017; Last Patient out : 1-June-2020
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted19 Jul 2017
- Study start1 Sep 2017 (estimated)
- Primary completion1 Jun 2020 (estimated)
- Study completion30 Sep 2020 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (12)Papers the sponsor has linked to this study.
- Other trials for Fabry Disease, Cardiac VariantStudies of the same condition, open and under way.
- More trials run by Taipei Veterans General Hospital, TaiwanThe 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
- Retrospective
- Enrolment
- 80 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Taipei Veterans General Hospital, Taiwan
- Sponsor type
- Other government
- Collaborators
- Sanofi
- Responsible party
- Principal investigator, vghtpe user, Taipei Veterans General Hospital, Taiwan
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03222336
- Sponsor's protocol ID
- Fabry Version 1.0 VGHTP 2016
- Status last verified
- Jul 2017
- First submitted
- 16 Jul 2017
- Last updated
- 19 Jul 2017
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Publications
Brouns R, Thijs V, Eyskens F, Van den Broeck M, Belachew S, Van Broeckhoven C, Redondo P, Hemelsoet D, Fumal A, Jeangette S, Verslegers W, Baker R, Hughes D, De Deyn PP; BeFaS Investigators. Belgian Fabry study: prevalence of Fabry disease in a cohort of 1000 young patients with cerebrovascular disease. Stroke. 2010 May;41(5):863-8. doi: 10.1161/STROKEAHA.110.579409. Epub 2010 Apr 1.
PubMed 20360539Chong KW, Lu YH, Hsu JH, Lo MY, Hsiao CY, Niu DM (2008) High incidence of cardiac variant of Fabry disease in Taiwanese revealed by newborn screening Conference High incidence of cardiac variant of Fabry disease in Taiwanese revealed by newborn screening, Hualien, Taiwan, 2008, pp 92-98
Deegan PB, Baehner AF, Barba Romero MA, Hughes DA, Kampmann C, Beck M; European FOS Investigators. Natural history of Fabry disease in females in the Fabry Outcome Survey. J Med Genet. 2006 Apr;43(4):347-52. doi: 10.1136/jmg.2005.036327. Epub 2005 Oct 14.
PubMed 16227523Desnick RJ, Ioannou YA, Eng CM (2001) a-Galactosidase A deficiency: Fabry disease. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic and molecular bases of inherited disease. McGraw-Hill, New York, pp 3733-3774
Lin HY, Huang CH, Yu HC, Chong KW, Hsu JH, Lee PC, Cheng KH, Chiang CC, Ho HJ, Lin SP, Chen SJ, Lin PK, Niu DM. Enzyme assay and clinical assessment in subjects with a Chinese hotspot late-onset Fabry mutation (IVS4 + 919G-->A). J Inherit Metab Dis. 2010 Oct;33(5):619-24. doi: 10.1007/s10545-010-9166-7. Epub 2010 Sep 7.
PubMed 20821055Mehta A, Ricci R, Widmer U, Dehout F, Garcia de Lorenzo A, Kampmann C, Linhart A, Sunder-Plassmann G, Ries M, Beck M. Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry Outcome Survey. Eur J Clin Invest. 2004 Mar;34(3):236-42. doi: 10.1111/j.1365-2362.2004.01309.x.
PubMed 15025684Nakao S, Takenaka T, Maeda M, Kodama C, Tanaka A, Tahara M, Yoshida A, Kuriyama M, Hayashibe H, Sakuraba H, et al. An atypical variant of Fabry's disease in men with left ventricular hypertrophy. N Engl J Med. 1995 Aug 3;333(5):288-93. doi: 10.1056/NEJM199508033330504.
PubMed 7596372Nakao S, Kodama C, Takenaka T, Tanaka A, Yasumoto Y, Yoshida A, Kanzaki T, Enriquez AL, Eng CM, Tanaka H, Tei C, Desnick RJ. Fabry disease: detection of undiagnosed hemodialysis patients and identification of a "renal variant" phenotype. Kidney Int. 2003 Sep;64(3):801-7. doi: 10.1046/j.1523-1755.2003.00160.x.
PubMed 12911529Ries M, Gupta S, Moore DF, Sachdev V, Quirk JM, Murray GJ, Rosing DR, Robinson C, Schaefer E, Gal A, Dambrosia JM, Garman SC, Brady RO, Schiffmann R. Pediatric Fabry disease. Pediatrics. 2005 Mar;115(3):e344-55. doi: 10.1542/peds.2004-1678. Epub 2005 Feb 15.
PubMed 15713906von Scheidt W, Eng CM, Fitzmaurice TF, Erdmann E, Hubner G, Olsen EG, Christomanou H, Kandolf R, Bishop DF, Desnick RJ. An atypical variant of Fabry's disease with manifestations confined to the myocardium. N Engl J Med. 1991 Feb 7;324(6):395-9. doi: 10.1056/NEJM199102073240607. No abstract available.
PubMed 1846223Tai CL, Liu MY, Yu HC, Chiang CC, Chiang H, Suen JH, Kao SM, Huang YH, Wu TJ, Yang CF, Tsai FC, Lin CY, Chang JG, Chen HD, Niu DM. The use of high resolution melting analysis to detect Fabry mutations in heterozygous females via dry bloodspots. Clin Chim Acta. 2012 Feb 18;413(3-4):422-7. doi: 10.1016/j.cca.2011.10.023. Epub 2011 Oct 29.
PubMed 22063097Wilcox WR, Oliveira JP, Hopkin RJ, Ortiz A, Banikazemi M, Feldt-Rasmussen U, Sims K, Waldek S, Pastores GM, Lee P, Eng CM, Marodi L, Stanford KE, Breunig F, Wanner C, Warnock DG, Lemay RM, Germain DP; Fabry Registry. Females with Fabry disease frequently have major organ involvement: lessons from the Fabry Registry. Mol Genet Metab. 2008 Feb;93(2):112-28. doi: 10.1016/j.ymgme.2007.09.013. Epub 2007 Nov 26.
PubMed 18037317
Study at a glance
From the registry record, last updated by the sponsor on 19 Jul 2017. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Study of Natural History Among Patients With Chinese Hotspot Late-onset Fabry Mutation IVS4+919G>A Through Family Pedigree Analysis
- ClinicalTrials.gov ID
- NCT03222336
- Acronym / sponsor ID
- Fabry Version 1.0 VGHTP 2016
- Conditions
- Fabry Disease, Cardiac Variant
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 80 participants (estimated)
- Lead sponsor
- Taipei Veterans General Hospital, TaiwanOther government
- Collaborators
- Sanofi
- Study start
- 1 Sep 2017 (estimated)
- Primary completion
- 1 Jun 2020 (estimated)
- Study completion
- 30 Sep 2020 (estimated)
- First posted
- 19 Jul 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.
Fabry disease is caused by the deficiency or absence of alpha-galactosidase A (α-Gal A) activity, leading to progressive deposition of glycosphingolipids, mainly globotriaosylceramide (Gb3), in the lysosomes of multiple tissues and organs. In Taiwan, Dr. Niu first revealed a surprisingly high incidence (approximately one in 1,600 males) of a cardiac variant GLA splicing mutation, IVS4+919G>A, in newborn screening. Patients who carried the IVS4 + 919G > A mutation and were older than 40 years had a higher prevalence of hypertrophic cardiomyopathy. Endocardial biopsy of these patients with hypertrophic cardiomyopathy showed significant Gb3 accumulation in the cardiomyocytes. Although the hotspot IVS4+919G>A mutation is now being observed with greater frequency, understanding of the natural course of cardiac variant Fabry disease with this specific mutation remains limited. Therefore, our study would like to conduct a study to approach the natural history among patients with Chinese hotspot late-onset Fabry mutation IVS4+919G>A through family pedigree analysis.
Detailed description
Fabry disease is caused by the deficiency or absence of alpha-galactosidase A (α-Gal A) activity, leading to progressive deposition of glycosphingolipids, mainly globotriaosylceramide (Gb3), in the lysosomes of multiple tissues and organs. The frequency of classic Fabry disease has been estimated as one in 40,000, and its symptoms typically manifest during childhood, including acroparesthesias, angiokeratoma, corneal opacities, and anhidrosis (Desnick et al. 2001; Ries et al. 2005). Originally thought to be less severe in females (Desnick et al. 2001), more recent evidence indicates that symptoms of this X-linked disorder can manifest as severely in females as in males (Mehta et al. 2004; Wilcox et al. 2008), although they generally occur later in life and show greater variation in severity among female patients (Deegan et al. 2006).
Atypical, late-onset phenotypes have been reported that lack these classic symptoms but instead present with cardiac (Nakao et al. 1995), renal (Nakao et al. 2003), or cerebrovascular disease (Brouns et al. 2010). The frequency of atypical Fabry disease is unknown, but it has been suggested to be more common than previously believed (Nakao et al. 1995). In Taiwan, Dr. Niu first revealed a surprisingly high incidence (approximately one in 1,600 males) of a cardiac variant GLA splicing mutation, IVS4+919G>A, in newborn screening (Chong et al. 2008). Affected males with IVS4+919G>A mutation typically lack the angiokeratomas, acroparesthesias, hypohidrosis, gastrointestinal abnormalities and corneal opacities that are characteristic of the classic, early-onset, more severe phenotype and may manifest cardiac disease with LVH leading to HCM in the third to sixth decades of life (Desnick et al. 2001, von Scheidt W, et al. 1991, Nakao et al. 1995, Nakao et al. 2003). In Dr. Niu's study, patients who carried the IVS4 + 919G > A mutation and were older than 40 years had a higher prevalence of hypertrophic cardiomyopathy (72% of males and 35% of females) (Tai et al., 2012). Endocardial biopsy of these patients with hypertrophic cardiomyopathy showed significant Gb3 accumulation in the cardiomyocytes which is the typical pathological change in patient with classical Fabry disease. Lin et al's previous study (Lin et al. 2010) showed that a high proportion of adults (>40 years of age) carrying the IVS4 +919G>A mutation experienced microalbuminuria and retinal vessel tortuosity, but symptoms involving these organs were very mild and did not cause significant morbidity. Although the hotspot IVS4+919G>A mutation is now being observed with greater frequency, understanding of the natural course of cardiac variant Fabry disease with this specific mutation remains limited.
Primary objective :
- To map the IVS4 family tree and identify obligate carriers with Chinese hotspot late-onset Fabry mutation IVS4+919G>A through pedigree analysis.
- To explore and enhance the understanding of the clinical manifestation, disease severity and natural history of patient with Chinese hotspot late-onset Fabry mutation IVS4+919G>A in Taiwan.
Primary End Point :
- Completeness of IVS4 family tree mapping and obligate carrier identification within their family pedigree.
Definition of family tree completeness:
- Enroll first generation (newborn), at least one member from second (parent) and third generation (grandparent) for a complete IVS4 family tree mapping.
Secondary endpoint :
- Collect and analyze medical history, genetic and biochemical assessment data. Perform eGFR and albumin to creatinine ratio (ACR) measurement for renal function assessment, Perform echocardiography and electrocardiography for cardiac function assessment.
Study design
- Observational model
- Case only
- Time perspective
- Retrospective
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- This prospective family screening study aim to enrol family members from pre-identified IVS4 female newborn's family. IVS4 female newborn's family member will be invited to join the family screening study with written informed consent prior to any specific study procedure. After written informed consent process, a series of screening examination will be conducted at screening visit which included medical history interview, physical examination, α-Gal A enzyme activity test, genetic test, plasma lyso-GB3, renal function and cardiac function assessment as well as pedigree data analysis for IVS4 family tree mapping.
Key inclusion criteria (2 listed)
- Fabry IVS4 female newborn family members.
- Patients and/or their legal representatives who are willing to provide written informed consent
Key exclusion criteria (1 listed)
- No blood relatives to the IVS4 female newborn family
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 |
|---|---|---|
| Family pedigree and data collection1. Enroll first generation (newborn), at least one member from second (parent) and third generation (grandparent) for a complete IVS4 family tree mapping. 2. Collect and analyze medical history, genetic and biochemical assessment data | Behavioural | – |
Primary outcome
Completeness of IVS4 family tree mapping and obligate carrier identification within their family pedigree
Time frame: First patient in : 30-Sep-2017; Last Patient out : 1-June-2020
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 19 Jul 2017.
- Background: PubMed 20360539Brouns R, Thijs V, Eyskens F, Van den Broeck M, Belachew S, Van Broeckhoven C, Redondo P, Hemelsoet D, Fumal A, Jeangette S, Verslegers W, Baker R, Hughes D, De Deyn PP; BeFaS Investigators. Belgian Fabry study: prevalence of Fabry disease in a cohort of 1000 young patients with cerebrovascular disease. Stroke. 2010 May;41(5):863-8. doi: 10.1161/STROKEAHA.110.579409. Epub 2010 Apr 1.
- BackgroundChong KW, Lu YH, Hsu JH, Lo MY, Hsiao CY, Niu DM (2008) High incidence of cardiac variant of Fabry disease in Taiwanese revealed by newborn screening Conference High incidence of cardiac variant of Fabry disease in Taiwanese revealed by newborn screening, Hualien, Taiwan, 2008, pp 92-98
- Background: PubMed 16227523Deegan PB, Baehner AF, Barba Romero MA, Hughes DA, Kampmann C, Beck M; European FOS Investigators. Natural history of Fabry disease in females in the Fabry Outcome Survey. J Med Genet. 2006 Apr;43(4):347-52. doi: 10.1136/jmg.2005.036327. Epub 2005 Oct 14.
- BackgroundDesnick RJ, Ioannou YA, Eng CM (2001) a-Galactosidase A deficiency: Fabry disease. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic and molecular bases of inherited disease. McGraw-Hill, New York, pp 3733-3774
- Background: PubMed 20821055Lin HY, Huang CH, Yu HC, Chong KW, Hsu JH, Lee PC, Cheng KH, Chiang CC, Ho HJ, Lin SP, Chen SJ, Lin PK, Niu DM. Enzyme assay and clinical assessment in subjects with a Chinese hotspot late-onset Fabry mutation (IVS4 + 919G-->A). J Inherit Metab Dis. 2010 Oct;33(5):619-24. doi: 10.1007/s10545-010-9166-7. Epub 2010 Sep 7.
- Background: PubMed 15025684Mehta A, Ricci R, Widmer U, Dehout F, Garcia de Lorenzo A, Kampmann C, Linhart A, Sunder-Plassmann G, Ries M, Beck M. Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry Outcome Survey. Eur J Clin Invest. 2004 Mar;34(3):236-42. doi: 10.1111/j.1365-2362.2004.01309.x.
- Background: PubMed 7596372Nakao S, Takenaka T, Maeda M, Kodama C, Tanaka A, Tahara M, Yoshida A, Kuriyama M, Hayashibe H, Sakuraba H, et al. An atypical variant of Fabry's disease in men with left ventricular hypertrophy. N Engl J Med. 1995 Aug 3;333(5):288-93. doi: 10.1056/NEJM199508033330504.
- Background: PubMed 12911529Nakao S, Kodama C, Takenaka T, Tanaka A, Yasumoto Y, Yoshida A, Kanzaki T, Enriquez AL, Eng CM, Tanaka H, Tei C, Desnick RJ. Fabry disease: detection of undiagnosed hemodialysis patients and identification of a "renal variant" phenotype. Kidney Int. 2003 Sep;64(3):801-7. doi: 10.1046/j.1523-1755.2003.00160.x.
- Background: PubMed 15713906Ries M, Gupta S, Moore DF, Sachdev V, Quirk JM, Murray GJ, Rosing DR, Robinson C, Schaefer E, Gal A, Dambrosia JM, Garman SC, Brady RO, Schiffmann R. Pediatric Fabry disease. Pediatrics. 2005 Mar;115(3):e344-55. doi: 10.1542/peds.2004-1678. Epub 2005 Feb 15.
- Background: PubMed 1846223von Scheidt W, Eng CM, Fitzmaurice TF, Erdmann E, Hubner G, Olsen EG, Christomanou H, Kandolf R, Bishop DF, Desnick RJ. An atypical variant of Fabry's disease with manifestations confined to the myocardium. N Engl J Med. 1991 Feb 7;324(6):395-9. doi: 10.1056/NEJM199102073240607. No abstract available.
- Background: PubMed 22063097Tai CL, Liu MY, Yu HC, Chiang CC, Chiang H, Suen JH, Kao SM, Huang YH, Wu TJ, Yang CF, Tsai FC, Lin CY, Chang JG, Chen HD, Niu DM. The use of high resolution melting analysis to detect Fabry mutations in heterozygous females via dry bloodspots. Clin Chim Acta. 2012 Feb 18;413(3-4):422-7. doi: 10.1016/j.cca.2011.10.023. Epub 2011 Oct 29.
- Background: PubMed 18037317Wilcox WR, Oliveira JP, Hopkin RJ, Ortiz A, Banikazemi M, Feldt-Rasmussen U, Sims K, Waldek S, Pastores GM, Lee P, Eng CM, Marodi L, Stanford KE, Breunig F, Wanner C, Warnock DG, Lemay RM, Germain DP; Fabry Registry. Females with Fabry disease frequently have major organ involvement: lessons from the Fabry Registry. Mol Genet Metab. 2008 Feb;93(2):112-28. doi: 10.1016/j.ymgme.2007.09.013. Epub 2007 Nov 26.
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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.
Questions about this trial
What is this clinical trial studying?
An observational study of Fabry Disease, Cardiac Variant, run by Taipei Veterans General Hospital, 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 2 inclusion and 1 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 19 Jul 2017. Status can change between updates, so confirm with the study contact before making plans.
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 Dau-Ming Niu (886-2-28712121 ext. 8486, dmniu1111@yahoo.com.tw), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Completeness of IVS4 family tree mapping and obligate carrier identification within their family pedigree (time frame: First patient in : 30-Sep-2017; Last Patient out : 1-June-2020). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT03222336, which also lists 12 linked publications.
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 19 Jul 2017.