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Erythropoietic Protoporphyrias: Studies of the Natural History, Genotype-Phenotype Correlations, and Psychosocial Impact

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Erythropoietic Protoporphyrias: Studies of the Natural History, Genotype-Phenotype Correlations, and Psychosocial Impact Erythropoietic Protoporphyrias: Studies of the Natural History, Genotype-Phenotype Correlations, and Psychosocial Impact PI: Dr. Manisha Balwani NCT01688895 Document Date: Jun 26, 2015 RDCRN PC #7207 EPP Natural History Version Date: V2 26Jun2015 Rare Diseases Clinical Research Network Porphyrias Consortium Erythropoietic Protoporphyrias: Studies of the Natural History, Genotype-Phenotype Correlations, and Psychosocial Impact This protocol is for research purposes only and should not be copied, redistributed, or used for any other purpose. The procedures in this protocol are intended only for use by the Porphyrias Consortium investigators in carefully controlled settings. The Study Chair of this study should be consulted before using this protocol. Study Chair: Manisha Balwani, MD, MS Department of Genetics & Genomic Sciences Icahn School of Medicine at Mount Sinai One Gustave L. Levy Place, Box 1497 New York, NY 10029 Phone: 212-241-0915 Fax: 212-426-9065 Email: [email protected] Page 1 of 31 RDCRN PC #7207 EPP Natural History Version Date: V2 26Jun2015 Table of Contents Contents Participating Institutions/Investigators Table (contact information)............................................................... 4 1. Synopsis .................................................................................................................................................... 6 1.A. Protocol Overview .............................................................................................................................. 8 2. Objective and Research Question ............................................................................................................ 8 3. Background ............................................................................................................................................... 8 4. Study Design and Methods ..................................................................................................................... 10 4.A. Inclusion criteria ............................................................................................................................... 11 4.B. Exclusion Criteria ............................................................................................................................. 11 4.C. Recruitment and Enrollment of Subjects ......................................................................................... 11 4.D. Retention strategies ......................................................................................................................... 13 4.E. Data Elements ................................................................................................................................. 14 4.E.1. Study Visits Overview: .............................................................................................................. 14 4.E.2. Data Collection, Maintenance, and Storage ............................................................................ 15 4.E.3. Data Items ............................................................................................................................... 17 4.F. Sample Collection and Storage ....................................................................................................... 18 4.F.1. Sample Collection .................................................................................................................... 18 4.F.2. Sample Identification and Storage ............................................................................................ 19 4.F.3. Banking of Samples .................................................................................................................. 19 4.G. Longitudinal investigation of natural history, complications, and outcomes ................................... 20 4.H.1. Method to determine if there are specific genotypes or other biomarkers that predict outcome ............................................................................................................................................................ 20 4.H.2. Method for determining risk of disease complications and adverse outcomes ........................ 21 4.H.3. Method to assess the long-term medical complications of the erythropoietic protoporphyrias and their treatment .............................................................................................................................. 21 4.I. Challenges ........................................................................................................................................ 21 5. Data and Safety Monitoring Plan ............................................................................................................ 22 5.A Definitions ......................................................................................................................................... 23 5.B Reporting Timeline ............................................................................................................................ 23 5.C Standard Elements ........................................................................................................................... 23 5.D Procedures ....................................................................................................................................... 24 5.E Study Discontinuation ....................................................................................................................... 24 5.F Subject Discontinuation .................................................................................................................... 24 5.G Data Quality and Monitoring Measures ............................................................................................ 24 Page 2 of 31 RDCRN PC #7207 EPP Natural History Version Date: V2 26Jun2015 6. Statistical Considerations ........................................................................................................................ 25 6.A Analysis Plan .................................................................................................................................... 25 6. B Power Calculation ............................................................................................................................ 26 7. Data Management ................................................................................................................................... 26 7.A Enrollment ......................................................................................................................................... 27 7.B Data Entry ......................................................................................................................................... 27 7.C Data Quality Control ......................................................................................................................... 27 7.D Laboratory data flow ........................................................................... Error! Bookmark not defined. 8. Human Subjects ...................................................................................................................................... 27 8.A. Human subjects involvement and characteristics ........................................................................... 27 8.B Informed consent .............................................................................................................................. 28 8.C Source of material ............................................................................................................................ 29 8.D Potential risks ................................................................................................................................... 29 8.E Protection against risk ...................................................................................................................... 29 8.F Potential benefits of the proposed research to the participants and others ..................................... 30 8.G Importance of the knowledge to be gained ...................................................................................... 30 8.H Confidentiality ................................................................................................................................... 30 8.I Financial considerations..................................................................................................................... 31 8.J Conflict of interest .............................................................................................................................. 31 9. References .............................................................................................................................................. 31 Page 3 of 31 RDCRN PC #7207 EPP Natural History Version Date: V2 26Jun2015 Participating Institutions/Investigators Table (contact information) Principal Investigator: Manisha Balwani, MD Contact: Hetanshi Naik, MS, CGC Institution: Icahn School of Medicine at Mount Sinai Address: Department of Genetics & Genomic Sciences One Gustave L. Levy Place, Box 1497 New York, NY 10029 Phone: 212-241-7699 Fax: 212-426-9065 Email: [email protected], [email protected] Sub-Investigators: Robert J. Desnick, MD, PhD; Lawrence Liu, MD Principal Investigator: Joseph R. Bloomer, MD Contact: Toni Seay Institution: University of Alabama at Birmingham Address: UAB Porphyria Center Liver Center, Division of Gastroenterology
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