Literature DB >> 25205868

CNGB3-achromatopsia clinical trial with CNTF: diminished rod pathway responses with no evidence of improvement in cone function.

Wadih M Zein1, Brett G Jeffrey1, Henry E Wiley1, Amy E Turriff1, Santa J Tumminia1, Weng Tao2, Ronald A Bush3, Dario Marangoni4, Rong Wen5, Lisa L Wei1, Paul A Sieving6.   

Abstract

PURPOSE: Ciliary neurotrophic factor (CNTF) protects rod photoreceptors from retinal degenerative disease in multiple nonhuman models. Thus far, CNTF has failed to demonstrate rod protection in trials for human retinitis pigmentosa. Recently, CNTF was found to improve cone photoreceptor function in a canine CNGB3 achromatopsia model. This study explores whether this finding translates to humans with CNGB3 achromatopsia.
METHODS: A five-subject, open-label Phase I/II study was initiated by implanting intraocular microcapsules releasing CNTF (nominally 20 ng/d) into one eye each of CNGB3 achromat participants. Fellow eyes served as untreated controls. Subjects were followed for 1 year.
RESULTS: Pupil constriction in treated eyes gave evidence of intraocular CNTF release. Additionally, scotopic ERG responses were reduced, and dark-adapted psychophysical absolute thresholds were increased, attributable to diminished rod or rod pathway activity. Optical coherence tomography revealed that the cone-rich fovea underwent structural changes as the foveal hyporeflective zone (HRZ) became diminished in CNTF-treated eyes. No objectively measurable enhancement of cone function was found by assessments of visual acuity, mesopic increment sensitivity threshold, or the photopic ERG. Careful measurements of color hue discrimination showed no change. Nonetheless, subjects reported beneficial changes of visual function in the treated eyes, including reduced light sensitivity and aversion to bright light, which may trace to decreased effective ambient light from the pupillary constriction; further they noted slowed adaptation to darkness, consistent with CNTF action on rod photoreceptors.
CONCLUSIONS: Ciliary neurotrophic factor did not measurably enhance cone function, which reveals a species difference between human and canine CNGB3 cones in response to CNTF. (ClinicalTrials.gov number, NCT01648452.). Copyright 2014 The Association for Research in Vision and Ophthalmology, Inc.

Entities:  

Keywords:  CNGB3; CNTF; CNTF-releasing implant; ECT implant; achromatopsia; cone photoreceptor; human clinical trial; rod photoreceptor

Mesh:

Substances:

Year:  2014        PMID: 25205868      PMCID: PMC4191169          DOI: 10.1167/iovs.14-14860

Source DB:  PubMed          Journal:  Invest Ophthalmol Vis Sci        ISSN: 0146-0404            Impact factor:   4.799


  45 in total

1.  Rod cyclic nucleotide-gated channels have a stoichiometry of three CNGA1 subunits and one CNGB1 subunit.

Authors:  Jie Zheng; Matthew C Trudeau; William N Zagotta
Journal:  Neuron       Date:  2002-12-05       Impact factor: 17.173

2.  Subunit stoichiometry of the CNG channel of rod photoreceptors.

Authors:  Dietmar Weitz; Nicole Ficek; Elisabeth Kremmer; Paul J Bauer; U Benjamin Kaupp
Journal:  Neuron       Date:  2002-12-05       Impact factor: 17.173

3.  Subunit configuration of heteromeric cone cyclic nucleotide-gated channels.

Authors:  Changhong Peng; Elizabeth D Rich; Michael D Varnum
Journal:  Neuron       Date:  2004-05-13       Impact factor: 17.173

4.  Mutations in the CNGB3 gene encoding the beta-subunit of the cone photoreceptor cGMP-gated channel are responsible for achromatopsia (ACHM3) linked to chromosome 8q21.

Authors:  S Kohl; B Baumann; M Broghammer; H Jägle; P Sieving; U Kellner; R Spegal; M Anastasi; E Zrenner; L T Sharpe; B Wissinger
Journal:  Hum Mol Genet       Date:  2000-09-01       Impact factor: 6.150

5.  Long-term protection of retinal structure but not function using RAAV.CNTF in animal models of retinitis pigmentosa.

Authors:  F Q Liang; T S Aleman; N S Dejneka; L Dudus; K J Fisher; A M Maguire; S G Jacobson; J Bennett
Journal:  Mol Ther       Date:  2001-11       Impact factor: 11.454

6.  Functionally important calmodulin-binding sites in both NH2- and COOH-terminal regions of the cone photoreceptor cyclic nucleotide-gated channel CNGB3 subunit.

Authors:  Changhong Peng; Elizabeth D Rich; Christopher A Thor; Michael D Varnum
Journal:  J Biol Chem       Date:  2003-05-01       Impact factor: 5.157

7.  Encapsulated cell-based intraocular delivery of ciliary neurotrophic factor in normal rabbit: dose-dependent effects on ERG and retinal histology.

Authors:  Ronald A Bush; Bo Lei; Weng Tao; Dorit Raz; Chi-Chao Chan; Terry A Cox; Maria Santos-Muffley; Paul A Sieving
Journal:  Invest Ophthalmol Vis Sci       Date:  2004-07       Impact factor: 4.799

8.  Encapsulated cell-based delivery of CNTF reduces photoreceptor degeneration in animal models of retinitis pigmentosa.

Authors:  Weng Tao; Rong Wen; Moses B Goddard; Sandy D Sherman; Pam J O'Rourke; Paul F Stabila; William J Bell; Brenda J Dean; Konrad A Kauper; Veronica A Budz; William G Tsiaras; Gregory M Acland; Sue Pearce-Kelling; Alan M Laties; Gustavo D Aguirre
Journal:  Invest Ophthalmol Vis Sci       Date:  2002-10       Impact factor: 4.799

Review 9.  Cyclic nucleotide-gated ion channels.

Authors:  U Benjamin Kaupp; Reinhard Seifert
Journal:  Physiol Rev       Date:  2002-07       Impact factor: 37.312

10.  Retinal structure and function in achromatopsia: implications for gene therapy.

Authors:  Venki Sundaram; Caroline Wilde; Jonathan Aboshiha; Jill Cowing; Colin Han; Christopher S Langlo; Ravinder Chana; Alice E Davidson; Panagiotis I Sergouniotis; James W Bainbridge; Robin R Ali; Alfredo Dubra; Gary Rubin; Andrew R Webster; Anthony T Moore; Marko Nardini; Joseph Carroll; Michel Michaelides
Journal:  Ophthalmology       Date:  2013-10-20       Impact factor: 12.079

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  13 in total

Review 1.  Therapeutic avenues for hereditary forms of retinal blindness.

Authors:  Chitra Kannabiran; Indumathi Mariappan
Journal:  J Genet       Date:  2018-03       Impact factor: 1.166

Review 2.  Personalized therapeutic strategies for patients with retinitis pigmentosa.

Authors:  Andrew Zheng; Yao Li; Stephen H Tsang
Journal:  Expert Opin Biol Ther       Date:  2015-01-23       Impact factor: 4.388

3.  Intravitreal Ciliary Neurotrophic Factor Transiently Improves Cone-Mediated Function in a CNGB3-/- Mouse Model of Achromatopsia.

Authors:  Dario Marangoni; Camasamudram Vijayasarathy; Ronald A Bush; Lisa L Wei; Rong Wen; Paul A Sieving
Journal:  Invest Ophthalmol Vis Sci       Date:  2015-10       Impact factor: 4.799

4.  Blinded by the light: a nonhuman primate model of achromatopsia.

Authors:  Katherine E Uyhazi; Jean Bennett
Journal:  J Clin Invest       Date:  2019-01-22       Impact factor: 14.808

Review 5.  New and emerging technologies for the treatment of inherited retinal diseases: a horizon scanning review.

Authors:  J Smith; D Ward; M Michaelides; A T Moore; S Simpson
Journal:  Eye (Lond)       Date:  2015-06-26       Impact factor: 3.775

Review 6.  The cone dysfunction syndromes.

Authors:  Jonathan Aboshiha; Adam M Dubis; Joseph Carroll; Alison J Hardcastle; Michel Michaelides
Journal:  Br J Ophthalmol       Date:  2015-03-13       Impact factor: 4.638

7.  Significant changes in endogenous retinal gene expression assessed 1 year after a single intraocular injection of AAV-CNTF or AAV-BDNF.

Authors:  Chrisna J LeVaillant; Anil Sharma; Jill Muhling; Lachlan Pg Wheeler; Greg S Cozens; Mats Hellström; Jennifer Rodger; Alan R Harvey
Journal:  Mol Ther Methods Clin Dev       Date:  2016-12-07       Impact factor: 6.698

Review 8.  Gene Therapy for Color Blindness.

Authors:  Mark M Hassall; Alun R Barnard; Robert E MacLaren
Journal:  Yale J Biol Med       Date:  2017-12-19

9.  Correlation of Macular Focal Electroretinogram with Ellipsoid Zone Extension in Stargardt Disease.

Authors:  Edoardo Abed; Giorgio Placidi; Luigi Calandriello; Marco Piccardi; Francesca Campagna; Matteo Bertelli; Angelo Maria Minnella; Maria Cristina Savastano; Benedetto Falsini
Journal:  J Ophthalmol       Date:  2017-08-20       Impact factor: 1.909

10.  A Quantitative and Qualitative Exploration of Photoaversion in Achromatopsia.

Authors:  Jonathan Aboshiha; Neruban Kumaran; Angelos Kalitzeos; Chris Hogg; Gary Rubin; Michel Michaelides
Journal:  Invest Ophthalmol Vis Sci       Date:  2017-07-01       Impact factor: 4.799

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