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Fabry Registry Annual Report 2013

Fabry Registry

Annual Report 2013(This report covers data collected through 31 December 2012)

FMRB-0058-01A


Table of Contents

FOREWORD ................................................................................................................................. 1

INTRODUCTION ........................................................................................................................... 2

PATIENT ACCRUAL TO THE REGISTRY IN 2012 .............................................................................. 2

DEMOGRAPHICS OF REGISTRY PATIENTS .................................................................................... 2

FABRY REGISTRY DATA PUBLISHED IN 2012 ................................................................................. 3

TRANSITIONING TO REGISTRYNXT! .............................................................................................. 3

REPORTING OF ADVERSE DRUG REACTIONS ............................................................................... 7

APPENDIX 1. 2012 Boards of Advisors and Registry Coordinators ................................................... 8

APPENDIX 2. Fabry Registry Abstracts Presented in 2012 ............................................................. 10

APPENDIX 3. Fabry Registry Peer-Reviewed Publications .............................................................. 11

APPENDIX 4. Minimum Recommended Schedules of Assessments ............................................... 12

This report is intended only for participants of the Fabry Registry (Physicians and Health Care Advocates), including the Board of Advisors. It is not to be reproduced or further distributed. It is not to be used for promotional purposes.


1

Foreword

On behalf of the Boards of Advisors for the Fabry Registry, we are pleased to present the Fabry Registry 2013 Annual Report. This year’s report is dedicated to highlighting RegistryNXT!, Genzyme’s innovative data collection and real-time data reporting platform planned for implementation in the second half of 2013.

Registry NXT! is an intuitive and feature-rich system that will enhance patient data collection, access and reporting. Key functionality allows participating registry sites to quickly download their own patient’s data, analyze it for trends and easily share it with other health care providers they designate. The Fabry Registry Patient Case Report (PCR) has been re-designed streamlining visibility into patient clinical status with customizable graphical summaries of longitudinal data.

Registry NXT! supports the Fabry Registry’s objective to help registry sites acquire patient data that is vital to improving our understanding of the natural course of Fabry disease and outcomes with enzyme replacement therapy.

Fabrazyme supply was restored in 2012. Using the Fabry Registry to monitor patients who have undergone ERT dose changes continues to be important so that we can learn as much as possible about the disease and its treatment. We hope that you find this edition of the Fabry Registry Annual Report to be informative. We also thank you for your continued active participation in the Fabry Registry.

Prof. Dr. Christoph Wanner, M.D. Fabry Registry International Board of Advisors

David W. Warnock, M.D. Fabry Registry International Board of Advisors

Joel Charrow, M.D. Fabry Registry International Board of Advisors

Juan Manuel Politei, M.D. Fabry Registry International Board of Advisors

2013 Annual Report


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0

804682003

Year

PatientsPhysicians

500 1000 2000 25001500 3000 3500 4000 4500

2005 1821835

2004 1391146

2002 1153

2001 322

2006 2092205

2007 2322610

2008 2562989

34382792009

29438292010

29641262011

30244822012

The numbers of enrolled patients and participating physicians are shown by year, through 31 December 2012. Note that participating physicians are designated as those with 1 or more patients enrolled in the Fabry Registry.

Figure 1. Cumulative Enrollment of Patients and Physicians

in the Fabry Registry

Men WomenTotal Number of Patients Enrolled, N 2144 2338

Regional Enrollment, n (%)

Europe 843 (39.3) 944 (40.4)

North America 872 (40.7) 1019 (43.6)

Asia Pacific 199 (9.3) 217 (9.3)

Latin America 230 (10.7) 158 (6.8)

Current Age*, All Patients (yrs)

n 2141 2333

Mean (SD) 40.1 (16.75) 44.4 (17.92)

Median 41.8 45.1

Q1,Q3 27.9, 52.8 30.7, 57.7

Min, Max 1.8, 87.0 1.2, 92.2

Current Age Distribution, n (%)

Age ≥18 years 1904 (88.8) 2148 (91.9)

Age <18 years 237 (11.1) 185 (7.9)

Age at Fabry Diagnosis (yrs)

n 2123 2263

Mean (SD) 27.8 (17.20) 33.9 (18.05)

Median 26.4 33.0

Q1,Q3 13.9, 40.2 19.2, 47.4

Min, Max 0.0, 81.1 0.0, 82.4

Table 1. Patient Demographics

*indicates age as of 31 December 2012. Max, maximum; Min, minimum; SD, standard deviation; Q1, 25th percentile; Q3, 75th percentile; yrs, years

Introduction

The Fabry Registry is a global, observational, and voluntary program designed to collect patient clinical data related to the onset, progression, and treatment course of Fabry disease. Publication of these data in peer-reviewed biomedical journals is a major emphasis of the Fabry Registry. In addition, such data are also used to fulfill various global regulatory commitments. All patients with Fabry disease are eligible to participate in the Fabry Registry, regardless of whether they are receiving enzyme replacement therapy (ERT) and irrespective of the commercial product with which they are being treated.

Regional Advisory Boards provide scientific oversight and direction to the Fabry Registry. Board members are physicians with expertise in Fabry disease who serve as liaisons between the Fabry Registry and the Fabry medical community within their respective geographic regions (Appendix 1).

The infrastructure of the Fabry Registry is sponsored by Genzyme, a Sanofi company, which underwrites a third party to maintain the clinical database. Genzyme also provides financial support for data collection at some participating sites. Personnel who manage and administer the Fabry Registry program operate within the Clinical Development & Medical Affairs and Global Registry programs at Genzyme.

Patient Accrual to the Registry in 2012

The Fabry Registry began enrolling patients in April 2001 and is currently the largest registry that tracks clinical data for patients with Fabry disease. As of 31 December 2012, a total of 302 physicians worldwide have enrolled 4482 patients in the Fabry Registry, as shown in Figure 1.

Demographics of Registry Patients

The Fabry Registry population includes nearly equal numbers of men (2144) and women (2338), and most are from Europe and North America, as shown in Table 1. As of 31 December 2012, the median age of Fabry Registry participants was 42 years for men and 45 years for women. At that time, 11% of males and 8% of females enrolled were children (below the age of 18 years). Men were diagnosed with Fabry at a median age of 26 years, versus 33 years for women.


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Fabry Registry Data Published in 2012

Three Fabry Registry manuscripts were accepted for publication in 2012 and several manuscripts evaluating treatment outcome are in development. The first publication characterized the demographic and baseline clinical characteristics of Latin American patients with Fabry disease compared to that of patients in the rest of the world (Villalobos 2012). Two other Fabry Registry publications evaluated Fabry Registry patients in Argentina and Brazil compared to those in the rest of the world (Politei, 2013 and Martins, 2013 respectively).

Transitioning to RegistryNXT!

The Fabry Registry is changing its current Registry data technology platform to facilitate research flexibility, disease management, and ease of use. Transition to the new data collection and reporting system is planned to begin in the second half of 2013. All participating sites will receive training on the new system. A help desk will continue to be available to provide initial and ongoing support to sites.

This multi-year project to redesign the data collection and reporting platform for the Rare Disease Registries is called RegistryNXT! The Gaucher Registry successfully transitioned to RegistryNXT! in 2011, the Pompe Registry in 2012, and the Fabry Registry will complete the transition in 2013.

This system is designed to meet the following goals:

1. Easier and more flexible data entry:

• All screens and case report forms are designed to ease data entry.

• A sortable patient list allows for quick scanning and switching between patients.

• A task list indicates information needed to complete data entry.

2. Faster and better data reporting that provides:

• Immediate access to patient data and more flexible, easy to use reporting tools.

• Real-time, interactive patient case reports providing graphical summaries of a patient’s current and longitudinal data.

3. Easier data access to answer clinical and scientific questions:

• A more flexible system providing easier focused data collections to investigate unanswered clinical and scientific questions.

4. More useful tools for disease management:

• Customizable patient reports to assist with patient care and disease management.

• Interactive patient case reports for sharing with members of the patient’s healthcare team, including the patient.

• Patient treatment progress can be followed by comparing individual patient data with those from other patients locally or worldwide.

5. Broader and closer worldwide community:

• Physicians can connect with others by opting to share contact information in the online Global Registry Directory.

• Physicians can also connect and share reports with members of a healthcare team for each patient.


4

Screenshot of Fabry Registry Portal Home Page

From this page, sites can log into RegistryNXT!, request username or password help, enroll a physician or HCA, and learn more about the Fabry Registry. You can also easily tab between the Gaucher Registry and Pompe Registry by clicking on the name in the upper left hand corner of the page.


5

Screenshot of Fabry Registry Home Page

*Please note that all data presented in sample screenshots are dummy data.

Upon logging in, the Fabry Registry home page displays the My Site, Reports, and Library tabs. The My Site tab displays the site name, list of patients enrolled, site profile (including contact information), data entry activity and site members. From this page, sites can enroll a patient, request a transfer of patients, and enter patient clinical data.

The Reports tab is where you will find the Site Data Download report.

The Library tab is where you will find eLearning materials, Registry documents, forms, guidelines, etc.

If you click on a specific patient, it will open a panel that displays a small patient profile window at the top and the Patient Clinical Summary at the bottom. The Patient Clinical Summary can be viewed in table form (see below) or in graph format (see screenshot of Sample Patient Profile and Longitudinal Patient Data).


Screenshot of Fabry Registry Patient Clinical Summary Page

*Please note that all data presented in sample screenshots are dummy data.

6


7

Screen Shot of RegistryNXT!’s New Portal Illustrating a Sample Patient Profile and Longitudinal Patient Data

*Please note that all data presented in sample screenshots are dummy data. The purpose of the figure is to illustrate in graphic format the Patient Clinical Summary. In this instance, we are graphing eGFR and Primary Therapy During Follow-up.

Reporting of Adverse Drug Reactions

It is the responsibility of Genzyme to collect, review, and report adverse drug reactions following administration of Fabrazyme. Genzyme requests physicians report all adverse drug reactions associated with the use of Fabrazyme within 24 hours of the physician’s first knowledge. Genzyme will follow-up on all reported adverse drug reactions. In addition, physicians should report any adverse drug reaction associated with Fabry treatment to the appropriate manufacturer(s).

All communications regarding adverse drug reactions for Genzyme products should be directed to:

Genzyme Global Pharmacovigilance and EpidemiologySend All Adverse Drug Reaction Reports to fax: +1 617-761-8506 or

email: [email protected]


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North American Board of Advisors

European Board of Advisors

Japan Asia-Pacific Board of Advisors

Advisor Affiliation LocationProf. Dr. C. Wanner (Chair) Universitätsklinik Würzburg Würzburg, Germany

Dr. A. Burlina San Bassiano Hospital Bassano del Grappa, Italy

Prof. Dr. U. Feldt-Rasmussen National University Hospital Copenhagen, Denmark

Dr. A. Fouilhoux Hôpital Edouard Herriot Lyon, France

Prof. D. P. Germain Hôpital Raymond Poincaré Garches, France

Dr. L. Golan General Hospital Charles University Prague, Czech Republic

Prof. A. Linhart General Hospital Charles University Prague, Czech Republic

Dr. G. Linthorst Academisch Medisch Centrum Amsterdam, Netherlands

Dr. J.P. Oliveira Médica Faculdade de Medicina da Universidade Do Porto Porto, Portugal

Dr. A. Ortiz Fundacion Jiménez Díaz Madrid, Spain

Prof. Dr. A. Tylki-Szymanska Children’s Memorial Health Institute Warsaw, Poland

Dr. B. Vujkovac General Hospital Slovenj Gradec, Slovenia

Dr. S. Waldek Independent Medical Consultant Sale, UK

Dr. F. Weidemann Universitätsklinik Würzburg Würzburg, Germany

Advisor Affiliation LocationJoel Charrow, M.D. (chair) Ann and Robert H. Lurie Children’s Hospital of Chicago Chicago, IL, USA

Ademola Abiose, M.D. Iowa University Health Center Iowa City, IA, USA

Maryam Banikazemi, M.D. Columbia University College of Physicians and Surgeons New York, NY, USA

John Barranger, M.D., Ph.D. Lysosomal Storage Disease Clinical Care Network Pittsburgh, PA, USA

Daniel Bichet, M.D. Hôpital du Sacré-Coeur de Montréal Montréal, QC, Canada

Lorne Clarke, M.D. British Columbia Research Institute for Child & Family Health Vancouver, BC, Canada

Christine Eng, M.D. Baylor College of Medicine Houston, TX, USA

Robert Hopkin, M.D. Cincinnati Children’s Hospital Medical Center Cincinnati, OH, USA

Michael Mauer, M.D. University of Minnesota Minneapolis, MN, USA

Manesh Patel, M.D. Duke University Medical Center Durham, NC, USA

C. Ronald Scott, M.D. University of Washington Seattle, WA, USA

Katherine Sims, M.D. Massachusetts General Hospital Boston, MA, USA

David G. Warnock, M.D. University of Alabama at Birmingham Birmingham, AL, USA

William Wilcox, M.D., Ph.D. Cedars Sinai Medical Center Los Angeles, CA, USA

Advisor Affiliation LocationProf. Nan Chen Ruijin Hospital Shanghai, China

Dr. Janice Fletcher Women's and Children's Hospital North Adelaide, Australia

Dr. Wuh-Liang Hwu National Taiwan University Hospital Taipei, Taiwan

Dr. Toya Ohashi Tokyo Jikei University School of Medicine Tokyo, Japan

Dr. Chih-Chao Yang National Taiwan University Hospital Taipei, Taiwan

Dr. Han-Wook Yoo Asan Medical Center Song Pa-ku, Korea

Appendix 1. 2012 Boards of Advisors and Registry Coordinators


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Latin American Fabry Registry Coordinators

International Board of Advisors

Advisor Affiliation LocationJoel Charrow, M.D. Ann and Robert H. Lurie Children’s Hospital of Chicago Chicago, IL, USA

Juan Manuel Politei, M.D. Hospital Juan Fernandez Buenos Aires, Argentina

Prof. Dr. C. Wanner Universitätsklinik Würzburg Würzburg, Germany

David G. Warnock, M.D. University of Alabama at Birmingham Birmingham, AL, USA

Coordinator Affiliation LocationGustavo Cabrera Grupo Médico Del Viso Buenos Aires, Argentina

Prof. Ana Maria Martins, M.D., Ph.D. Universidade Federal de São Paulo São Paulo, Brazil

Jorge Ortiz, M.D. Fundación Pediátrica Guatemalteca Guatemala, Guatemala

Sandra Ospina, M.D. Universidad del Rosario Bogotá, Colombia

Juan Manuel Politei, M.D. Juan Fernandez Hospital Buenos Aires, Argentina

Carmen Varas, M.D. Hospital San Pablo Coquimbo, Chile

Jacobo Villalobos, M.D. Universidad Central de Venezuela.Escuela de Medicina Luis Razetti. Cátedra de Fisiología

Caracas, Venezuela


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Appendix 2. Fabry Registry Abstracts Presented in 2012

Cabrera G, Politei J, Amartino H, Valdez R, Masllorens F, Ripeau D, Antongiovanni N Soleani A, Fernandez S, Fainboim A, Luna P, Cedrolla M. Utilidad del Fabry Registry para comparar distintas poblaciones. Argentina versus Resto del Mundo [presented at XIV Simposio Latinoamericano de Enfermedades de Deposito Lisosomal, May 25-26, Cartagena, Colombia]

Germain DP, Abiose A, Patel MR, Cizmarik M, Strotmann J. Agalsidase beta treatment improves left ventricular hypertrophy when treatment is initiated early: data from the Fabry Registry. [presented at Lysosomal Disease Network - WORLD Symposium, Feb 8-10, 2012]

Hopkin RJ, Mauer M, Lemay R, Strotmann J, Sims KB. Early initiation of agalsidase beta treatment is associated with fewer clinical events: data from the Fabry Registry. [presented at Lysosomal Disease Network - WORLD Symposium, Feb 8-10, 2012]

Germain DP, Abiose A, Patel MR, Weidemann F, Benistan K, Waldek S, and Strotmann, J on behalf of the Fabry Registry. Cardiac outcomes of agalsidase beta treatment for Fabry disease: analysis of cardiovascular disease progression in men enrolled in the Fabry Registry. [presented at SSIEM Annual Symposium, Sept 4-7, 2012]

Politei J. Stroke In Patients With Fabry Disease: Natural History Data From The Fabry Registry. [presented at Argentinean Neurology Conference, Nov 5, 2012, in Spanish]

Villalobos J, Politei JM, Martins AM, Cabrera G, Amartino H, Lemay R, Ospina S, Suarez Ordoñez S, Varas C Utilidad del Fabry Registry para comparar distintas poblaciones. LATAM versus Resto del Mundo [presented at XIV Simposio Latinoamericano de Enfermedades de Deposito Lisosomal, May 25-26, Cartagena, Colombia]

Villalobos J, Politei JM, Martins AM, Cabrera G, Amartino H, Ospina S, Suarez Ordoñez S, Varas C Aspectos renales de la Enfermedad de Fabry en Latinoamérica. Datos del Registro de Fabry. [presented at XII Congreso de la Sociedad Venezolana de Nefrología, June 26-29, Bolivar, Venezuela]


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Appendix 3. Fabry Registry Peer-Reviewed Publications

Villalobos J, Politei JM, Martins AM, Cabrera G, Amartino H, Lemay R, Ospina S, Suarez Ordonez S, Varas C. Fabry Disease in Latin America: Data from the Fabry Registry. JIMD Reports, DOI 10.1007/8904_2012_165, published online 6 July 2012.

Politei JM, Cabrera G, Amartino H, Valdez R, Masllorens F, Ripeau D, Antongiovanni N, Soliani A, Luna P, Cedrolla M, Fernandez S,. Fainboim A. Fabry disease in Argentina: an evaluation of patients enrolled in the Fabry registry. Int J Clin Pract 2013;67(1):66-72.

Martins AM, Kyosen SO, Garrote J, Marques FMV, Guilhem JG, Kessler M, Macedo E, Sobral Neto J, Ura S, Gomes VG. Demographic characterization of Brazilian patients enrolled in the Fabry Registry. Genet. Mol. Res 2013;12(1):136-142.

Warnock DG, Oritz A, Mauer M, Linthorst GE, et al. Renal outcomes of agalsidase beta treatment for Fabry disease: role of proteinuria and timing of treatment initiation: findings from the Fabry Registry. Nephrol Dial Transplant, 2012;27:1042-1049 2011.

Wilcox WR, Linthorst GE, Germain DP, et al. Anti-α-galactosidase A antibody response to agalsidase beta treatment: Data from the Fabry Registry. Mol Genet Metab 2012;105:443-449.

Patel MR, Cecchi F, Cizmarik M, et al. Cardiovascular events in patients with Fabry disease: natural history data from the Fabry registry. J Am Coll Cardiol. 2011;57:1093-1099.

Wanner C, Oliveira JP, Ortiz A, et al. Prognostic indicators of renal disease progression in adults with Fabry disease: natural history data from the Fabry Registry. Clin J Am Soc Nephrol. 2010;5:2220-2228.

Watt T, Burlina AP, Cazzorla C, et al. Agalsidase beta treatment is associated with improved quality of life in patients with Fabry disease: findings from the Fabry Registry. Genet Med. 2010;12:703-712.

Ortiz A, Cianciaruso B, Cizmarik M, et al. End-stage renal disease in patients with Fabry disease: natural history data from the Fabry Registry. Nephrol Dial Transplant. 2010;25:769-775.

Waldek S, Patel M, Banikazemi M, et al.. Life Expectancy and Cause of Death in Menand Women with Fabry Disease: Findings from the Fabry Registry. Genet Med. 2009;11:790-796.

Politei JM, Cabello JF, Villalobos J, et al. New concepts of the natural history, evolution and treatment, related to the findings of Fabry Registry. [Spanish]. Revista de nefrología,diálisis y trasplante. 2009;29:145-152.

Sims K, Politei J, Banikazemi M, Lee P. Stroke in Fabry Disease Frequently Occurs Before Diagnosis and in the Absence of Other Clinical Events: Natural History Data from the Fabry Registry. Stroke. 2009;40:788-794.

Wilcox WR, Oliveira JP, Hopkin RJ, et al. . Women with Fabry disease frequently have major organ involvement: Lessons from the Fabry Registry. Mol Genet Metab. 2008;93:112-128.

Ortiz A, Oliveira JP, Waldek S, et al. ; on behalf of the Fabry Registry. Nephropathy in men and Women with Fabry disease: cross-sectional description of patients before treatment with enzyme replacement therapy. Nephrol Dial Transpl. 2008;23:1600-1607.

Hopkin RJ, Bissler J, Banikazemi M, Clarke L, Eng CM, Germain DP, Lemay R, Tylki-Szymanska A, Wilcox WR. Characterization of Fabry disease in 352 pediatric patients in the Fabry Registry. Pediatr Res. 2008;64:550-555.

Eng CM, Fletcher J, Wilcox WR, Waldek S, Scott CR, Sillence DO, Breunig F, Charrow J, Germain DP, Nicholls K, Banikazemi M. Fabry disease: baseline medical characteristics of a cohort of 1765 men and Women in the Fabry Registry. J Inherit Metab Dis. 2007;30:184-192.

Eng CM, Germain DP, Banikazemi M, Warnock DG, Wanner C, Hopkin RJ, Bultas J, Lee P, Sims K, Brodie SE, Pastores GM, Strotmann JM, Wilcox WR. Fabry disease: guidelines for the evaluation and management of multi-organ system involvement. Genet Med. 2006;8:539-548.


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Appendix 4. Minimum Recommended Schedules of Assessments

Upon Enrollment

Every 6 – 12 monthsA

Every 24-36 months

At time of an event or therapy

change

GENERALMedical History, with particular focus on:

� � �

Gastrointestinal SymptomsPainSweatingHeat & cold intolerance

Family History � �

Physical Exam � � �

Vital Signs, Height and Weight � � �

Blood PressureB � � �

Enzyme Activity and Genotype �

Enzyme Replacement Therapy Status � � �

Concomitant Medication Assessment � � �

Pediatric Quality of Life Assessment – PedsQLTM Pediatric Quality of Life Inventory � � �

Pediatric Quality of Life Assessment – PedsQLTM Multidimensional Fatigue Scale � � �

Pediatric Pain Assessment – PedsQLTM Pediatric Pain QuestionnaireTM � � �

LABORATORY TESTSGlomerular Filtration Rate C � � �

Albuminuria and Proteinuria D � � �

OTHER STUDIESAudiologic EvaluationE � � �

Cranial MRI – T1, T2 and FLAIR � � �

ElectrocardiogramG � � �

EchocardiogramH � � �

Ophthalmology – Slit Lamp ExamI � �

SPECIALIZED LABORATORY TESTS

Plasma GL-3Plasma samples for GL-3 testing should be drawn prior to the first infusion, then every 3 months for the first 18 months of treatment, then every 6 months thereafter.

Antibody TestingSerum samples for IgG testing should be drawn prior to the first infusion, then every 3 months for the first 18 months of treatment, then every 6 months until 2 consecutive negative results are confirmed.

ADVERSE EVENTS

Adverse Event ReportingOngoing/continuous monitoring with reporting through Genzyme Global Patient Safety and Risk Management (GPS-RM). Refer to the Safety section of the protocol for specific reporting guidelines and instructions.

* Physicians will determine the actual frequency of necessary assessments according to a patient’s individualized need for medical care. Abnormal findings may require more frequent assessment.† Initiation of Laboratory Tests, Imaging, and Other Studies: There is variability in the clinical complications and progression of Fabry disease. Children are at risk for life threatening complications. There are no biomarkers available to discern mildly affected from severely affected patients. In children with a family history of early presenting or severe disease, complete evaluations should be done at the time of diagnosis. Other patients should be completely evaluated at no later than 5 years of age.A Patients receiving ERT are recommended to undergo these evaluations every 6 months; for those not on ERT or with milder disease, once per year may be sufficientB Blood pressure is an important determinant of disease severity in Fabry disease. Measurement should be carefully done by a standard procedure (NIH pub#05-5267). A common method is to have the patient sit quietly in a room for at least 5 minutes and then perform 3 measurements with an age specific BP cuff or instrument. The cuff must cover at least two-thirds of the upper arm from the elbow to the shoulder. Record only the last 2 measurements.C Glomerular Filtration Rate (GFR) should be measured or estimated every 24-36 months until age 15, and annually thereafter. More frequent monitoring may be appropriate if abnormalities are detected. GFR can be measured as described by Schwartz et al (Pediatr Nephrol 2007; 22:1839) or an equivalent procedure. A less reliable method is creatinine clearance performed on a 24hr collection and repeated on a separate day. 24 hour urinary creatinine standards can be used to determine adequacy of the collection. If measured GFR can not be performed, serum creatinine levels should be obtained at the recommended intervals for an estimation of GFR, a less sensitive method of detecting renal deterioration.D First morning voided urine for protein, albumin and creatinine in order to calculate a protein/creatinine ratio and albumin/creatinine ratio. Protein, albumin, and creatinine measurements can also be performed on timed samples (e.g. 24 hours).E Audiologic evaluation should be performed at the earliest age that is practical. F First MRI should be performed at 10 years then every 5 years until 15, every 3 years after age 15. F1 At the time of an event, a cranial MRI should also include DWI/ADC. G Electrocardiogram should be performed starting at 10-15 years. If abnormal and/or clinical symptoms arise, Holter monitoring is recommended. H Echocardiogram should be performed starting at 10-15 years. Monitor yearly if retinal vessel tortuosity noted.I Monitor yearly if retinal vessel tortuosity noted.

Fabry Registry Minimum Recommended Schedule of Assessments for Patients Under 18 Years of Age*†

F1F


13

C

Upon Enrollment

Every 6 months

Every 12 months

Every 24-36 months

At time of an event or therapy

change

GENERALMedical History � � �

Family History � �

Physical Exam � � �

Vital Signs, Height and Weight � � �

Enzyme Activity and Genotype �

Enzyme Replacement Therapy Status � � �

Concomitant Medication Assessment � � �

Quality of Life (SF-36®, BPI) � � �

LABORATORY TESTSSerum CreatinineA and BUN � � �

Urine Protein ExcretionB � � �

Lipid panel � �

OTHER STUDIESAudiologic Evaluation � � �

Cranial MRI – T1, T2 and FLAIR � � �

ElectrocardiogramD � � �

Echocardiogram � � �

24 Hour Holter MonitoringE � � �

Respiratory – Spirometry ExamF � �

Ophthalmology – Slit Lamp ExamG �

SPECIALIZED LABORATORY TESTS

Plasma GL-3 Plasma samples for GL-3 testing should be drawn prior to the first infusion, then every 3 months for the first 18 months of treatment, then every 6 months thereafter.

Antibody Testing Serum samples for IgG testing should be drawn prior to the first infusion, then every 3 months for the first 18 months of treatment, then every 6 months until 2 consecutive negative results are confirmed.

ADVERSE EVENTS

Adverse Event ReportingOngoing/continuous monitoring with reporting through Genzyme Global Patient Safety and Risk Management Department. Refer to the Safety section of the protocol for specific reporting guidelines and instructions.

* Physicians will determine the actual frequency of necessary assessments according to a patient’s individualized need for medical care. Abnormal findings may require more frequent assessment.

A Directly measuring glomerular filtration rate (GFR) is recommended if a more precise evaluation is desired. B 24 hour or first morning void urine for protein, creatinine and albumin. C At the time of an event, a cranial MRI should also include DWI/ADC. D If electrocardiogram is abnormal and/or clinical symptoms arise, Holter monitoring is recommended. E Annual 24 hour holter monitoring is recommended for males 30 years of age or older and females 40 years of age or older. F If spirometry is abnormal, perform yearly.G Monitor yearly if retinal vessel tortuosity noted.

Fabry Registry Minimum Recommended Schedule of Assessments for Patients 18 Years of Age and Over


A program sponsored by Genzyme©2013 Genzyme, a Sanofi company

All rights reserved.

LSD Registry Contact Information

Genzyme Headquarters and North America Genzyme, a Sanofi company

Genzyme Corporation 500 Kendall StreetCambridge, MA 02142 USTel: 1.800.745.4447 (x15500) or: 1.617.591.5500Fax: 1.617.374.7339

Latin America

Genzyme do Brasil Ltda.Praça Floriano, 19-26° Andar-Centro20031-050 Rio de Janeiro – RJTel: +55 (21) 2156.9950Fax: +55 (21) 2156.9982

LSD Registry E-Mail:

[email protected]@[email protected]@mpsiregistry.com

Asia-Pacific

Genzyme Asia Pacific 6, Raffles Quay #18-00 Singapore 048580 Tel: +65 62263836Fax: +65 64312597

Europe, the Middle East, and Africa

Genzyme Europe BVGooimeer 101411 DD NaardenThe NetherlandsTel: +31.35.699.1232Fax: +31.35.699.8688

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