A One Visit Follow Up of Adults With Fabry Disease Who Started Long-term Enzyme Replacement Therapy As Children
NCT ID: NCT04002531
Last Updated: 2019-11-22
Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
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UNKNOWN
NA
12 participants
INTERVENTIONAL
2018-11-10
2019-12-31
Brief Summary
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Detailed Description
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Conditions
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Study Design
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NA
SINGLE_GROUP
OTHER
NONE
Study Groups
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Single Visit
1. General and neurological examination
2. Vital signs including height, weight, blood pressure, pulse, temperature
3. 12 lead ECG
4. 2 hour Holter monitor for heart rate variability
5. Echocardiogram
6. Renal function will be assessed by the eGFR. The eGFR will be calculated from serum creatinine using CKD-EPI equation.
7. CBC with differential
8. Complete metabolic panel
9. Urinalysis
10. Urine Albumin/creatinine ratio.
11. Urine and plasma samples for biomarkers (Gb3, lyso-Gb3) that will be stored in -80 freezer and assayed in our lab.
12. Brief Pain Inventory questionnaire.
13. Quality of Life Questionnaires (SF36)
General and Neurological examination
Information about your general health, neurological symptoms and current medications with be collected
Vital signs
Height, weight, blood pressure, heart rate, and respiratory rate and temperature will be measured.
12 lead electrocardiogram
A non-invasive test that measures the electrical activity of the heart
Echocardiogram
A non-invasive sonogram of the heart
Blood draw
Blood will be drawn to evaluate general health and renal function (kidney health)
Urine collection
Urine will be collection to evaluate renal function (kidney health)
2-hour Holter Monitor
A non-invasive test that measures the electrical activity of the heart continuously over 2 hours
Brief Pain Inventory questionnaire
A questionnaire about daily pain
Quality of Life questionnaire
A questionnaire about the impact of disease on their activities of daily living and quality of life
Interventions
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General and Neurological examination
Information about your general health, neurological symptoms and current medications with be collected
Vital signs
Height, weight, blood pressure, heart rate, and respiratory rate and temperature will be measured.
12 lead electrocardiogram
A non-invasive test that measures the electrical activity of the heart
Echocardiogram
A non-invasive sonogram of the heart
Blood draw
Blood will be drawn to evaluate general health and renal function (kidney health)
Urine collection
Urine will be collection to evaluate renal function (kidney health)
2-hour Holter Monitor
A non-invasive test that measures the electrical activity of the heart continuously over 2 hours
Brief Pain Inventory questionnaire
A questionnaire about daily pain
Quality of Life questionnaire
A questionnaire about the impact of disease on their activities of daily living and quality of life
Other Intervention Names
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Eligibility Criteria
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Inclusion Criteria
2. Sign the protocol informed consent form
3. Have been on continuous commercial ERT since TKT029 has ended
Exclusion Criteria
2. Patient does not give his written informed consent to participate in this study
3. Patient is unable to comply with the protocol, e.g., uncooperative with protocol schedule, refusal to agree to all of the study procedures.
4. Patient has been off ERT for an extended period of time as assessed by the investigator.
18 Years
ALL
No
Sponsors
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Shire
INDUSTRY
Baylor Research Institute
OTHER
Responsible Party
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Locations
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Baylor University Medical Center
Dallas, Texas, United States
Countries
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References
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Schiffmann R. Fabry disease. Pharmacol Ther. 2009 Apr;122(1):65-77. doi: 10.1016/j.pharmthera.2009.01.003. Epub 2009 Feb 8.
Schiffmann R, Ries M. Fabry Disease: A Disorder of Childhood Onset. Pediatr Neurol. 2016 Nov;64:10-20. doi: 10.1016/j.pediatrneurol.2016.07.001. Epub 2016 Jul 29.
Echevarria L, Benistan K, Toussaint A, Dubourg O, Hagege AA, Eladari D, Jabbour F, Beldjord C, De Mazancourt P, Germain DP. X-chromosome inactivation in female patients with Fabry disease. Clin Genet. 2016 Jan;89(1):44-54. doi: 10.1111/cge.12613. Epub 2015 Jun 22.
Dobyns WB. The pattern of inheritance of X-linked traits is not dominant or recessive, just X-linked. Acta Paediatr Suppl. 2006 Apr;95(451):11-5. doi: 10.1111/j.1651-2227.2006.tb02383.x.
MacDermot KD, Holmes A, Miners AH. Natural history of Fabry disease in affected males and obligate carrier females. J Inherit Metab Dis. 2001;24 Suppl 2:13-4; discussion 11-2. doi: 10.1023/a:1012447102358. No abstract available.
Schiffmann R, Warnock DG, Banikazemi M, Bultas J, Linthorst GE, Packman S, Sorensen SA, Wilcox WR, Desnick RJ. Fabry disease: progression of nephropathy, and prevalence of cardiac and cerebrovascular events before enzyme replacement therapy. Nephrol Dial Transplant. 2009 Jul;24(7):2102-11. doi: 10.1093/ndt/gfp031. Epub 2009 Feb 13.
Kwon JM, Matern D, Kurtzberg J, Wrabetz L, Gelb MH, Wenger DA, Ficicioglu C, Waldman AT, Burton BK, Hopkins PV, Orsini JJ. Consensus guidelines for newborn screening, diagnosis and treatment of infantile Krabbe disease. Orphanet J Rare Dis. 2018 Feb 1;13(1):30. doi: 10.1186/s13023-018-0766-x.
Meikle PJ, Hopwood JJ, Clague AE, Carey WF. Prevalence of lysosomal storage disorders. JAMA. 1999 Jan 20;281(3):249-54. doi: 10.1001/jama.281.3.249.
Schiffmann R, Hughes DA, Linthorst GE, Ortiz A, Svarstad E, Warnock DG, West ML, Wanner C; Conference Participants. Screening, diagnosis, and management of patients with Fabry disease: conclusions from a "Kidney Disease: Improving Global Outcomes" (KDIGO) Controversies Conference. Kidney Int. 2017 Feb;91(2):284-293. doi: 10.1016/j.kint.2016.10.004. Epub 2016 Dec 18.
Schiffmann R, Pastores GM, Lien YH, Castaneda V, Chang P, Martin R, Wijatyk A. Agalsidase alfa in pediatric patients with Fabry disease: a 6.5-year open-label follow-up study. Orphanet J Rare Dis. 2014 Nov 26;9:169. doi: 10.1186/s13023-014-0169-6.
Related Links
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Is it Fabry Disease?
Other Identifiers
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018-706
Identifier Type: -
Identifier Source: org_study_id
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