Tackling the Challenges of Product Development Through a Collaborative Rare Disease Network: The Foundation Fighting Blindness Consortium

被引：9

作者：

Durham, Todd A. ^{[1
]}

Duncan, Jacque L. ^{[2
]}

Ayala, Allison R. ^{[3
]}

Birch, David G. ^{[4
]}

Cheetham, Janet K. ^{[1
]}

Ferris, Frederick L., III ^{[5
]}

Hoyng, Carel B. ^{[6
]}

Pennesi, Mark E. ^{[7
]}

Sahel, Jose-Alain ^{[8
,9
,10
]}

机构：

[1] Fdn Fighting Blindness, Columbia, MD USA

[2] Univ Calif San Francisco, San Francisco, CA 94143 USA

[3] Jaeb Ctr Hlth Res, 15310 Amberly Dr, Tampa, FL 33647 USA

[4] Retina Fdn Southwest, Dallas, TX USA

[5] Ophthalm Res Consultants, Waxhaw, NC USA

[6] Radboud Univ Nijmegen, Med Ctr, Nijmegen, Netherlands

[7] Oregon Hlth & Sci Univ, Casey Eye Inst, Portland, OR 97201 USA

[8] Sorbonne Univ, Inst Vis, CNRS, INSERM, Paris, France

[9] INSERM DGOS CIC1423, Ctr Hosp Natl Ophtalmol Quinze Vingts, Paris, France

[10] Univ Pittsburgh, Sch Med, Dept Ophthalmol, Pittsburgh, PA 15261 USA

来源：

TRANSLATIONAL VISION SCIENCE & TECHNOLOGY | 2021年 / 10卷 / 04期

关键词：

inherited retinal degenerations; retinitis pigmentosa; consortium; infrastructure; genetic; natural history; outcome measures;

D O I：

10.1167/tvst.10.4.23

中图分类号：

R77 [眼科学];

学科分类号：

100212 ;

摘要：

The Foundation Fighting Blindness, a 501(c)(3) nonprofit organization, established an international consortium of inherited retinal disease specialists in 2016, with a mission to accelerate the development of treatments for rare, inherited retinal degenerations, such as retinitis pigmentosa, Stargardt disease, Leber congenital amaurosis, Usher syndrome, choroideremia, and achromatopsia. The Consortium accomplishes its mission by evaluating novel outcome measures, sharing standardized study protocols and datasets, and disseminating findings. Having established research infrastructure in the first 3 years, including 39 global research sites, the network is now poised to expand its infrastructure for trials of new therapies in partnership with industry. This model represents an innovative approach to overcome challenges of therapeutic development for rare diseases.

引用

页数：4

共 11 条

[1] Effect of Oral Valproic Acid vs Placebo for Vision Loss in Patients With Autosomal Dominant Retinitis Pigmentosa A Randomized Phase 2 Multicenter Placebo-Controlled Clinical Trial [J].

Birch, David G. ;

Bernstein, Paul S. ;

Iannacone, Alessandro ;

Pennesi, Mark E. ;

Lam, Byron L. ;

Heckenlively, John ;

Csaky, Karl ;

Hartnett, Mary Elizabeth ;

Winthrop, Kevin L. ;

Jayasundera, Thiran ;

Hughbanks-Wheaton, Dianna K. ;

Warner, Judith ;

Yang, Paul ;

Fish, Gary Edd ;

Teske, Michael P. ;

Sklaver, Neal L. ;

Erker, Laura ;

Chegarnov, Elvira ;

Smith, Travis ;

Wahle, Aimee ;

VanVeldhuisen, Paul C. ;

McCormack, Jennifer ;

Lindblad, Robert ;

Bramer, Steven ;

Rose, Stephen ;

Zilliox, Patricia ;

Francis, Peter J. ;

Weleber, Richard G. .

JAMA OPHTHALMOLOGY, 2018, 136 (08) :849-856

[2] Inherited Retinal Degenerations: Current Landscape and Knowledge Gaps [J].

Duncan, Jacque L. ;

Pierce, Eric A. ;

Laster, Amy M. ;

Daiger, Stephen P. ;

Birch, David G. ;

Ash, John D. ;

Iannaccone, Alessandro ;

Flannery, John G. ;

Sahel, Jose A. ;

Zack, Donald J. ;

Zarbin, Marco A. .

TRANSLATIONAL VISION SCIENCE & TECHNOLOGY, 2018, 7 (04)

[3] A Workshop on Measuring the Progression of Atrophy Secondary to Stargardt Disease in the ProgStar Studies: Findings and Lessons Learned [J].

Ervin, Ann-Margret ;

Strauss, Rupert W. ;

Ahmed, Mohamed, I ;

Birch, David ;

Cheetham, Janet ;

Ferris, Frederick L., III ;

Ip, Michael S. ;

Jaffe, Glenn J. ;

Maguire, Maureen G. ;

Schonbach, Etienne M. ;

Sadda, SriniVas R. ;

West, Sheila K. ;

Scholl, Hendrik P. N. ;

Wolfson, Yulia ;

Bittencourt, Millena ;

Shah, Syed Mahmood ;

Ahmed, Mohamed ;

Schonbach, Etienne ;

Fujinami, Kaoru ;

Traboulsi, Elias ;

Ehlers, Justis ;

Marino, Meghan ;

Crowe, Susan ;

Briggs, Rachael ;

Borer, Angela ;

Pinter, Anne ;

Burgnoni, Tami Fecko Nikki ;

Sunness, Janet S. ;

Applegate, Carol ;

Russell, Leslie ;

Michaelides, Michel ;

Degli Esposti, Simona ;

Webster, Anthony Moore Andrew ;

Connor, Sophie ;

Barnfield, Jade ;

Salchi, Zaid ;

Alfageme, Clara ;

Pefkianaki, Victoria McCudden Maria ;

Pefkianaki, Maria ;

Aboshiha, Jonathan ;

Holder, Gerald Liew Graham ;

Robson, Anthony ;

King, Alexa ;

Narvaez, Daniela Ivanova Cajas ;

Barnard, Katy ;

Grigg, Catherine ;

Dunbar, Hannah ;

Girard-Claudon, Yetunde Obadeyi Karine ;

Swann, Hilary ;

Rughani, Avani .

TRANSLATIONAL VISION SCIENCE & TECHNOLOGY, 2019, 8 (02)

[4] Quantification of Ellipsoid Zone Changes in Retinitis Pigmentosa Using en Face Spectral Domain-Optical Coherence Tomography [J].

Hariri, Amir H. ;

Zhang, Hong Yang ;

Ho, Alexander ;

Francis, Peter ;

Weleber, Richard G. ;

Birch, David G. ;

Ferris, Frederick L., III ;

Sadda, SriniVas R. .

JAMA OPHTHALMOLOGY, 2016, 134 (06) :628-635

[5] Visual Acuity Change Over 24 Months and Its Association With Foveal Phenotype and Genotype in Individuals With Stargardt Disease ProgStar Study Report No. 10 [J].

Kong, Xiangrong ;

Fujinami, Kaoru ;

Strauss, Rupert W. ;

Munoz, Beatriz ;

West, Sheila K. ;

Cideciyan, Artur V. ;

Michaelides, Michel ;

Ahmed, Mohamed ;

Ervin, Ann-Margret ;

Schonbach, Etienne ;

Cheetham, Janet K. ;

Scholl, Hendrik P. N. .

JAMA OPHTHALMOLOGY, 2018, 136 (08) :920-928

[6] Implementation of a registry and open access genetic testing program for inherited retinal diseases within a non-profit foundation [J].

Mansfield, Brian C. ;

Yerxa, Benjamin R. ;

Branham, Kari H. .

AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS, 2020, 184 (03) :838-845

[7]

Retina International, 2020, COST ILLNESS STUDY U

[8] Emerging therapies for inherited retinal degeneration [J].

Scholl, Hendrik P. N. ;

Strauss, Rupert W. ;

Singh, Mandeep S. ;

Dalkara, Deniz ;

Roska, Botond ;

Picaud, Serge ;

Sahel, Jose-Alain .

SCIENCE TRANSLATIONAL MEDICINE, 2016, 8 (368)

[9] Longitudinal Microperimetric Changes of Macular Sensitivity in Stargardt Disease After 12 Months ProgStar Report No. 13 [J].

Schonbach, Etienne M. ;

Strauss, Rupert W. ;

Munoz, Beatriz ;

Wolfson, Yulia ;

Ibrahim, Mohamed A. ;

Birch, David G. ;

Zrenner, Eberhart ;

Sunness, Janet S. ;

Ip, Michael S. ;

Sadda, SriniVas R. ;

West, Sheila K. ;

Scholl, Hendrik P. N. .

JAMA OPHTHALMOLOGY, 2020, 138 (07) :772-779

[10] Progression of Stargardt Disease as Determined by Fundus Autofluorescence Over a 12-Month Period: ProgStar Report No. 11 [J].

Strauss, Rupert W. ;

Kong, Xiangrong ;

Ho, Alexander ;

Jha, Anamika ;

West, Sheila ;

Ip, Michael ;

Bernstein, Paul S. ;

Birch, David G. ;

Cideciyan, Artur V. ;

Michaelides, Michel ;

Sahel, Jose-Alain ;

Sunness, Janet S. ;

Traboulsi, Elias I. ;

Zrenner, Eberhart ;

Pitetta, Sean ;

Jenkins, Dennis ;

Hariri, Amir Hossein ;

Sadda, SriniVas ;

Scholl, Hendrik P. N. ;

Strauss, Rupert W. ;

Wolfson, Yulia ;

Bittencourt, Millena ;

Shah, Syed Mahmood ;

Ahmed, Mohamed ;

Schonbach, Etienne ;

Fujinami, Kaoru ;

Traboulsi, Elias ;

Ehlers, Justis ;

Marino, Meghan ;

Crowe, Susan ;

Briggs, Rachael ;

Borer, Angela ;

Pinter, Anne ;

Fecko, Tami ;

Burgnoni, Nikki ;

Sunness, Janet S. ;

Applegate, Carol ;

Russell, Leslie ;

Michaelides, Michel ;

Degli Esposti, Simona ;

Moore, Anthony ;

Webster, Andrew ;

Connor, Sophie ;

Barnfield, Jade ;

Salchi, Zaid ;

Alfageme, Clara ;

McCudden, Victoria ;

Pefkianaki, Maria ;

Aboshiha, Jonathan .

JAMA OPHTHALMOLOGY, 2019, 137 (10) :1134-1145

← 1 2 →