Back to resultsCNTF Implants for CNGB3 Achromatopsia (CNTF-CNGB3-1)
Primary Purpose
Eye Disease, Achromatopsia
Status
Completed
Phase
Phase 1
Locations
United States
Study Type
Interventional
Intervention
NT-501 CNTF-releasing implant
Sponsored by
About this trial
This is an interventional treatment trial for Eye Disease focused on measuring Achromatopsia, Ciliary Neurotrophic Factor, CNTF
Eligibility Criteria
Inclusion Criteria:
To be eligible, the following inclusion criteria must be met, where applicable.
- Participant must be 18 years of age or older.
- Participant must carry two alleles for CNGB3 gene mutations and no cyclic nucleotide-gated channel alpha 3 (CNGA3) sequence variations as confirmed in a Clinical Laboratory Improvement Amendments (CLIA)-certified laboratory.
- Participant must understand and sign the protocol informed consent.
- Both female participants of childbearing potential and male participants able to father children must have (or have a partner who has) had a hysterectomy or vasectomy, be completely abstinent from intercourse, or must agree to use contraception during the first six months following implantation. Acceptable forms of contraception include:hormonal contraception (i.e., birth control pills, injected hormones, dermal patch or vaginal ring), intrauterine device, barrier methods (diaphragm, condom) with spermicide, or surgical sterilization (tubal ligation).
Exclusion Criteria:
A participant is not eligible if any of the following exclusion criteria are present.
- Participant has a history of other ocular disease likely to contribute significantly to visual loss (e.g., optic neuropathy, glaucoma, uveitis, or other retinal disease).
- Participant is judged by the investigator as not sufficiently healthy to safely undergo ophthalmic surgery.
- Participant is on anticoagulant therapy that cannot be safely stopped peri-operatively at the implant procedure. Patients on warfarin will always be excluded. Patients on aspirin will be asked to stop the medication at least seven days prior to the surgery (when not contraindicated by the underlying medical condition). The stoppage period for other anticoagulant medications is based on the best clinical judgment of the investigator surgeon and is variable depending on the patient's medical condition and the type of medication.
- Participant has had diagnosis or treatment of a malignancy (excluding non-melanoma skin cancer) within the previous five years.
- Participant has received investigational treatment in another clinical study related to an ocular condition in the last six months.
- Participant is pregnant, lactating or planning to become pregnant in the first six months following implantation.
Study Eye Eligibility Criteria:
The participant must have at least one eye meeting all inclusion criteria and none of the exclusion criteria listed below.
Study Eye Inclusion Criteria:
The study eye must have a best-corrected Early Treatment Diabetic Retinopathy Study (ETDRS) visual acuity letterscore of ≤ 53 (i.e., ≤ 20/100). The visual acuity from the first baseline visit (Baseline 1) will be used for eligibility determination in case of a change in visual acuity at the second baseline visit (Baseline 2).
Study Eye Exclusion Criteria:
- The study eye has a choroidal nevus or ocular neoplasm with potential risk for malignant transformation.
- The study eye is judged by the investigator, based on history or examination findings, as high-risk for retinal detachment, vitreous hemorrhage, infection, or uveitis.
- The study eye has lens, cornea, or other media opacities precluding adequate visualization and testing of the retina.
- The study eye has undergone intraocular surgery within 12 months prior to enrollment.
Study Eye Selection Criteria in Cases of Bilateral Disease:
- As this is a genetic condition that usually affects both eyes to a similar degree, if both eyes of a participant meet the study eye eligibility criteria and have comparable visual acuity, the study eye will be selected at the investigator's medical judgment after consultation with the participant.
- In case of an eye with lower visual acuity, that eye will be selected as the study eye.
Sites / Locations
- National Institutes of Health Clinical Center, 9000 Rockville Pike
Arms of the Study
Arm 1
Arm Type
Experimental
Arm Label
NT-501 CNTF-releasing implant
Arm Description
Ocular implantation of a NT-501 CNTF-releasing capsule (20 ng/day) in one eye (the study eye) at baseline
Outcomes
Primary Outcome Measures
Number of Adverse Events at Six Months Post-Implantation
The primary outcome is the total number of adverse events reported within six months post-implantation.
Number of Severe Adverse Events at Six Months Post-Implantation
The number of severe adverse events reported within six months post-implantation.
Number of Ocular Adverse Events at Six Months Post-Implantation
The number of eye-related adverse events reported within six months post-implantation.
Number of Non-Ocular Adverse Events at Six Months Post-Implantation
The number of non eye-related adverse events reported within six months post-implantation.
Secondary Outcome Measures
Number of Adverse Events at All Time Points Post-Implantation
The total number of adverse events reported from Day 1 post-implantation through study completion at Year 3.
Number of Severe Adverse Events at All Time Points Post-Implantation
The total number of severe adverse events reported from Day 1 post-implantation through study completion at Year 3.
Although there were two serious adverse events (SAEs) reported during the study, only one event's severity was classified as "severe."
Number of Ocular Adverse Events at All Time Points Post-Implantation
The total number of eye-related adverse events reported from Day 1 post-implantation through study completion at Year 3.
Number of Non-Ocular Adverse Events at All Time Points Post-Implantation
The total number of non eye-related adverse events reported from Day 1 post-implantation through study completion at Year 3.
Number of Participants Who Experienced an Improvement in Visual Acuity of Greater Than 0.3 logMAR (Logarithm of the Minimum Angle of Resolution) Post-Implantation in the Study Eye.
Improvement of visual acuity was assessed on both the study and control eyes. Visual acuity was measured using the Early Treatment Diabetic Retinopathy Study (ETDRS) protocol. Acuity is measured as letters read on an ETDRS eye chart and the letters read equate to Snellen measurements. For example, if a participant reads between 84 and 88 letters, the equivalent Snellen measurement is 20/20. .
The LogMAR scale [expressed as the (decadic) logarithm of the minimum angle of resolution (range from +1.00 to -0.30)] converts the geometric sequence of a traditional chart to a linear scale. It measures VA loss; positive values indicate vision loss, whereas negative values denote normal or better VA. A lower LogMAR value indicates better VA. For example, a visual acuity of 20/20 corresponds to a logMAR value of zero (0), and a visual acuity of 20/100 corresponds to a LogMAR value of 0.7.
Number of Participants Who Experienced an Improvement in Visual Acuity of Greater Than 0.3 logMAR (Logarithm of the Minimum Angle of Resolution) Post-Implantation in the Untreated Control Eye.
Improvement of visual acuity was assessed on both the study and control eyes. Visual acuity was measured using the Early Treatment Diabetic Retinopathy Study (ETDRS) protocol. Acuity is measured as letters read on an ETDRS eye chart and the letters read equate to Snellen measurements. For example, if a participant reads between 84 and 88 letters, the equivalent Snellen measurement is 20/20. .
The LogMAR scale [expressed as the (decadic) logarithm of the minimum angle of resolution (range from +1.00 to -0.30)] converts the geometric sequence of a traditional chart to a linear scale. It measures VA loss; positive values indicate vision loss, whereas negative values denote normal or better VA. A lower LogMAR value indicates better VA. For example, a visual acuity of 20/20 corresponds to a logMAR value of zero (0), and a visual acuity of 20/100 corresponds to a LogMAR value of 0.7.
Number of Participants Who Experienced an Increase in Either the Rod or Cone Electroretinogram (ERG) Responses of More Than 75% Post-Implantation in the Study Eye.
Full-field ERGs were recorded according to International Society of Clinical Electrophysiology of Vision Standards (ISCEV).
Number of Participants Who Experienced an Increase in Either the Rod or Cone Electroretinogram (ERG) Responses of More Than 75% Post-Implantation in the Untreated Control Eye.
Full-field ERGs were recorded according to International Society of Clinical Electrophysiology of Vision Standards (ISCEV).
Number of Participants Who Experienced an Improvement in Color Discrimination and/or Matching Post-Implantation in the Study Eye.
Color hue discrimination was tested by the Nagel anomaloscope, American Optical Hardy Rand Rittler (AOHRR) color plates, and a low vision version of the Cambridge Color Test (LvCCT) implemented on a ViSaGe System (Cambridge Research Systems Ltd., Rochester, UK) using custom-written software. Hardy Rand Rittler testing followed the guidelines accompanying the test and administered under a Macbeth Lamp at 300 lux.
Number of Participants Who Experienced an Improvement in Color Discrimination and/or Matching Post-Implantation in the Untreated Control Eye.
Color hue discrimination was tested by the Nagel anomaloscope, American Optical Hardy Rand Rittler (AOHRR) color plates, and a low vision version of the Cambridge Color Test (LvCCT) implemented on a ViSaGe System (Cambridge Research Systems Ltd., Rochester, UK) using custom-written software. Hardy Rand Rittler testing followed the guidelines accompanying the test and administered under a Macbeth Lamp at 300 lux.
Full Information
NCT ID
NCT01648452
First Posted
July 20, 2012
Last Updated
September 30, 2016
Sponsor
National Eye Institute (NEI)
1. Study Identification
Unique Protocol Identification Number
NCT01648452
Brief Title
CNTF Implants for CNGB3 Achromatopsia
Acronym
CNTF-CNGB3-1
Official Title
A Phase I/II Study of the NT-501 Intraocular Implant Releasing Ciliary Neurotrophic Factor (CNTF) in Participants With CNGB3 Achromatopsia
Study Type
Interventional
2. Study Status
Record Verification Date
September 2016
Overall Recruitment Status
Completed
Study Start Date
July 2012 (undefined)
Primary Completion Date
March 2013 (Actual)
Study Completion Date
October 2015 (Actual)
3. Sponsor/Collaborators
Responsible Party, by Official Title
Principal Investigator
Name of the Sponsor
National Eye Institute (NEI)
4. Oversight
Data Monitoring Committee
Yes
5. Study Description
Brief Summary
Background:
Achromatopsia is an inherited condition that causes vision loss because cells in the retina do not work properly. It causes loss of acuity, sensitivity to light, and loss of color vision. There are no effective treatments for achromatopsia.
Four genes currently are known to cause achromatopsia. One of these, the cyclic nucleotide-gated channel beta 3 (CNGB3) gene, is the cause in about 50 percent of people.
CNTF is a natural chemical found in the body that promotes survival and function of nerve cells. CNTF has been shown to be effective in treating retinal disease in animals and can slow vision loss.
CNTF has also been studied in over 250 people with retinal disease other than achromatopsia. In these studies, a CNTF implant was placed into the eye during a simple surgery. The implant releases CNTF inside the eye, near the retina. These studies suggested that a CNTF implant might help vision in some eye diseases.
Objectives:
To learn whether a CNTF implant is safe for people with CNGB3 achromatopsia.
To learn whether CNTF can improve visual acuity or color vision, and whether it may reduce sensitivity to light in people with CNGB3 achromatopsia.
Eligibility:
You may be able to take part in this study if you:
Are at least 18 years old.
Test positive for mutations in the CNGB3 gene and have no mutations in another achromatopsia gene.
Have 20/100 vision or worse in at least one eye.
Are not pregnant or nursing.
Design:
To determine if you can take part, we will ask about your medical history and do a physical examination and an eye examination. Blood and urine samples will be taken.
This study requires 11 visits to the National Eye Institute over 3 years.
One visit will be for the implant surgery. The implant will be placed in one eye only.
Study visits will take place 1 day after implant surgery, and again 1 week later and 1 month, 3 months, 6 months, 1 year, 1.5 years and 3 years later. These visits will help us evaluate the safety and benefit of the implant on your eye.
At the 3 year visit, you can choose to keep the CNTF implant in your eye, or you can have us remove it.
Detailed Description
Objective: The objective of this study is to evaluate the safety of ocular NT-501 device with encapsulated NT-201 cells releasing Ciliary Neurotrophic Factor (CNTF) to the retina of participants affected with CNGB3 achromatopsia.
Study Population: Five participants affected with CNGB3 achromatopsia will be enrolled, with one eye treated per participant.
Design: This is a Phase I/II, prospective, single-center study. One eye of each participant will receive a vitreous NT-501 device implant releasing CNTF. The study will be completed once the final participant has received three years of follow-up.
Outcome Measures: The primary outcome is the number and severity of adverse events and systemic and ocular toxicities at six months post-implantation. Additional safety of ocular CNTF implants in participants with CNGB3 achromatopsia will be determined from assessment of retinal function, ocular structure and occurrence of adverse events at all time points. Secondary outcomes include changes in visual function including visual acuity and color vision, electroretinogram (ERG) responses, and retinal imaging with optical coherence tomography (OCT).
6. Conditions and Keywords
Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study
Eye Disease, Achromatopsia
Keywords
Achromatopsia, Ciliary Neurotrophic Factor, CNTF
7. Study Design
Primary Purpose
Treatment
Study Phase
Phase 1, Phase 2
Interventional Study Model
Single Group Assignment
Masking
None (Open Label)
Allocation
N/A
Enrollment
5 (Actual)
8. Arms, Groups, and Interventions
Arm Title
NT-501 CNTF-releasing implant
Arm Type
Experimental
Arm Description
Ocular implantation of a NT-501 CNTF-releasing capsule (20 ng/day) in one eye (the study eye) at baseline
Intervention Type
Biological
Intervention Name(s)
NT-501 CNTF-releasing implant
Intervention Description
20 ng/day released into the eye
Primary Outcome Measure Information:
Title
Number of Adverse Events at Six Months Post-Implantation
Description
The primary outcome is the total number of adverse events reported within six months post-implantation.
Time Frame
Day 1, Week 1, Week 4, Week 12, Week 24 post-implantation
Title
Number of Severe Adverse Events at Six Months Post-Implantation
Description
The number of severe adverse events reported within six months post-implantation.
Time Frame
Day 1, Week 1, Week 4, Week 12, Week 24 post-implantation
Title
Number of Ocular Adverse Events at Six Months Post-Implantation
Description
The number of eye-related adverse events reported within six months post-implantation.
Time Frame
Day 1, Week 1, Week 4, Week 12, Week 24 post-implantation
Title
Number of Non-Ocular Adverse Events at Six Months Post-Implantation
Description
The number of non eye-related adverse events reported within six months post-implantation.
Time Frame
Day 1, Week 1, Week 4, Week 12, Week 24 post-implantation
Secondary Outcome Measure Information:
Title
Number of Adverse Events at All Time Points Post-Implantation
Description
The total number of adverse events reported from Day 1 post-implantation through study completion at Year 3.
Time Frame
Day 1, Week 1, Week 4, Week 12, Week 24, Week 52, Week 78, Week 156 post-implantation
Title
Number of Severe Adverse Events at All Time Points Post-Implantation
Description
The total number of severe adverse events reported from Day 1 post-implantation through study completion at Year 3.
Although there were two serious adverse events (SAEs) reported during the study, only one event's severity was classified as "severe."
Time Frame
Day 1, Week 1, Week 4, Week 12, Week 24, Week 52, Week 78, Week 156 post-implantation
Title
Number of Ocular Adverse Events at All Time Points Post-Implantation
Description
The total number of eye-related adverse events reported from Day 1 post-implantation through study completion at Year 3.
Time Frame
Day 1, Week 1, Week 4, Week 12, Week 24, Week 52, Week 78, Week 156 post-implantation
Title
Number of Non-Ocular Adverse Events at All Time Points Post-Implantation
Description
The total number of non eye-related adverse events reported from Day 1 post-implantation through study completion at Year 3.
Time Frame
Day 1, Week 1, Week 4, Week 12, Week 24, Week 52, Week 78, Week 156 post-implantation
Title
Number of Participants Who Experienced an Improvement in Visual Acuity of Greater Than 0.3 logMAR (Logarithm of the Minimum Angle of Resolution) Post-Implantation in the Study Eye.
Description
Improvement of visual acuity was assessed on both the study and control eyes. Visual acuity was measured using the Early Treatment Diabetic Retinopathy Study (ETDRS) protocol. Acuity is measured as letters read on an ETDRS eye chart and the letters read equate to Snellen measurements. For example, if a participant reads between 84 and 88 letters, the equivalent Snellen measurement is 20/20. .
The LogMAR scale [expressed as the (decadic) logarithm of the minimum angle of resolution (range from +1.00 to -0.30)] converts the geometric sequence of a traditional chart to a linear scale. It measures VA loss; positive values indicate vision loss, whereas negative values denote normal or better VA. A lower LogMAR value indicates better VA. For example, a visual acuity of 20/20 corresponds to a logMAR value of zero (0), and a visual acuity of 20/100 corresponds to a LogMAR value of 0.7.
Time Frame
Day 1, Week 1, Week 4, Week 12, Week 24, Week 52, Week 78, Week 156 post-implantation
Title
Number of Participants Who Experienced an Improvement in Visual Acuity of Greater Than 0.3 logMAR (Logarithm of the Minimum Angle of Resolution) Post-Implantation in the Untreated Control Eye.
Description
Improvement of visual acuity was assessed on both the study and control eyes. Visual acuity was measured using the Early Treatment Diabetic Retinopathy Study (ETDRS) protocol. Acuity is measured as letters read on an ETDRS eye chart and the letters read equate to Snellen measurements. For example, if a participant reads between 84 and 88 letters, the equivalent Snellen measurement is 20/20. .
The LogMAR scale [expressed as the (decadic) logarithm of the minimum angle of resolution (range from +1.00 to -0.30)] converts the geometric sequence of a traditional chart to a linear scale. It measures VA loss; positive values indicate vision loss, whereas negative values denote normal or better VA. A lower LogMAR value indicates better VA. For example, a visual acuity of 20/20 corresponds to a logMAR value of zero (0), and a visual acuity of 20/100 corresponds to a LogMAR value of 0.7.
Time Frame
Day 1, Week 1, Week 4, Week 12, Week 24, Week 52, Week 78, Week 156 post-implantation
Title
Number of Participants Who Experienced an Increase in Either the Rod or Cone Electroretinogram (ERG) Responses of More Than 75% Post-Implantation in the Study Eye.
Description
Full-field ERGs were recorded according to International Society of Clinical Electrophysiology of Vision Standards (ISCEV).
Time Frame
Day 1, Week 1, Week 4, Week 12, Week 24, Week 52, Week 78, Week 156 post-implantation
Title
Number of Participants Who Experienced an Increase in Either the Rod or Cone Electroretinogram (ERG) Responses of More Than 75% Post-Implantation in the Untreated Control Eye.
Description
Full-field ERGs were recorded according to International Society of Clinical Electrophysiology of Vision Standards (ISCEV).
Time Frame
Day 1, Week 1, Week 4, Week 12, Week 24, Week 52, Week 78, Week 156 post-implantation
Title
Number of Participants Who Experienced an Improvement in Color Discrimination and/or Matching Post-Implantation in the Study Eye.
Description
Color hue discrimination was tested by the Nagel anomaloscope, American Optical Hardy Rand Rittler (AOHRR) color plates, and a low vision version of the Cambridge Color Test (LvCCT) implemented on a ViSaGe System (Cambridge Research Systems Ltd., Rochester, UK) using custom-written software. Hardy Rand Rittler testing followed the guidelines accompanying the test and administered under a Macbeth Lamp at 300 lux.
Time Frame
Day 1, Week 1, Week 4, Week 12, Week 24, Week 52, Week 78, Week 156 post-implantation
Title
Number of Participants Who Experienced an Improvement in Color Discrimination and/or Matching Post-Implantation in the Untreated Control Eye.
Description
Color hue discrimination was tested by the Nagel anomaloscope, American Optical Hardy Rand Rittler (AOHRR) color plates, and a low vision version of the Cambridge Color Test (LvCCT) implemented on a ViSaGe System (Cambridge Research Systems Ltd., Rochester, UK) using custom-written software. Hardy Rand Rittler testing followed the guidelines accompanying the test and administered under a Macbeth Lamp at 300 lux.
Time Frame
Day 1, Week 1, Week 4, Week 12, Week 24, Week 52, Week 78, Week 156 post-implantation
10. Eligibility
Sex
All
Minimum Age & Unit of Time
18 Years
Accepts Healthy Volunteers
No
Eligibility Criteria
Inclusion Criteria:
To be eligible, the following inclusion criteria must be met, where applicable.
Participant must be 18 years of age or older.
Participant must carry two alleles for CNGB3 gene mutations and no cyclic nucleotide-gated channel alpha 3 (CNGA3) sequence variations as confirmed in a Clinical Laboratory Improvement Amendments (CLIA)-certified laboratory.
Participant must understand and sign the protocol informed consent.
Both female participants of childbearing potential and male participants able to father children must have (or have a partner who has) had a hysterectomy or vasectomy, be completely abstinent from intercourse, or must agree to use contraception during the first six months following implantation. Acceptable forms of contraception include:hormonal contraception (i.e., birth control pills, injected hormones, dermal patch or vaginal ring), intrauterine device, barrier methods (diaphragm, condom) with spermicide, or surgical sterilization (tubal ligation).
Exclusion Criteria:
A participant is not eligible if any of the following exclusion criteria are present.
Participant has a history of other ocular disease likely to contribute significantly to visual loss (e.g., optic neuropathy, glaucoma, uveitis, or other retinal disease).
Participant is judged by the investigator as not sufficiently healthy to safely undergo ophthalmic surgery.
Participant is on anticoagulant therapy that cannot be safely stopped peri-operatively at the implant procedure. Patients on warfarin will always be excluded. Patients on aspirin will be asked to stop the medication at least seven days prior to the surgery (when not contraindicated by the underlying medical condition). The stoppage period for other anticoagulant medications is based on the best clinical judgment of the investigator surgeon and is variable depending on the patient's medical condition and the type of medication.
Participant has had diagnosis or treatment of a malignancy (excluding non-melanoma skin cancer) within the previous five years.
Participant has received investigational treatment in another clinical study related to an ocular condition in the last six months.
Participant is pregnant, lactating or planning to become pregnant in the first six months following implantation.
Study Eye Eligibility Criteria:
The participant must have at least one eye meeting all inclusion criteria and none of the exclusion criteria listed below.
Study Eye Inclusion Criteria:
The study eye must have a best-corrected Early Treatment Diabetic Retinopathy Study (ETDRS) visual acuity letterscore of ≤ 53 (i.e., ≤ 20/100). The visual acuity from the first baseline visit (Baseline 1) will be used for eligibility determination in case of a change in visual acuity at the second baseline visit (Baseline 2).
Study Eye Exclusion Criteria:
The study eye has a choroidal nevus or ocular neoplasm with potential risk for malignant transformation.
The study eye is judged by the investigator, based on history or examination findings, as high-risk for retinal detachment, vitreous hemorrhage, infection, or uveitis.
The study eye has lens, cornea, or other media opacities precluding adequate visualization and testing of the retina.
The study eye has undergone intraocular surgery within 12 months prior to enrollment.
Study Eye Selection Criteria in Cases of Bilateral Disease:
As this is a genetic condition that usually affects both eyes to a similar degree, if both eyes of a participant meet the study eye eligibility criteria and have comparable visual acuity, the study eye will be selected at the investigator's medical judgment after consultation with the participant.
In case of an eye with lower visual acuity, that eye will be selected as the study eye.
Overall Study Officials:
First Name & Middle Initial & Last Name & Degree
Paul A Sieving, MD, PhD
Organizational Affiliation
National Eye Institute (NEI)
Official's Role
Principal Investigator
Facility Information:
Facility Name
National Institutes of Health Clinical Center, 9000 Rockville Pike
City
Bethesda
State/Province
Maryland
ZIP/Postal Code
20892
Country
United States
12. IPD Sharing Statement
Plan to Share IPD
No
Citations:
PubMed Identifier
10958649
Citation
Kohl S, Baumann B, Broghammer M, Jagle H, Sieving P, Kellner U, Spegal R, Anastasi M, Zrenner E, Sharpe LT, Wissinger B. 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. Hum Mol Genet. 2000 Sep 1;9(14):2107-16. doi: 10.1093/hmg/9.14.2107.
Results Reference
background
PubMed Identifier
11536077
Citation
Wissinger B, Gamer D, Jagle H, Giorda R, Marx T, Mayer S, Tippmann S, Broghammer M, Jurklies B, Rosenberg T, Jacobson SG, Sener EC, Tatlipinar S, Hoyng CB, Castellan C, Bitoun P, Andreasson S, Rudolph G, Kellner U, Lorenz B, Wolff G, Verellen-Dumoulin C, Schwartz M, Cremers FP, Apfelstedt-Sylla E, Zrenner E, Salati R, Sharpe LT, Kohl S. CNGA3 mutations in hereditary cone photoreceptor disorders. Am J Hum Genet. 2001 Oct;69(4):722-37. doi: 10.1086/323613. Epub 2001 Aug 30.
Results Reference
background
PubMed Identifier
12077706
Citation
Kohl S, Baumann B, Rosenberg T, Kellner U, Lorenz B, Vadala M, Jacobson SG, Wissinger B. Mutations in the cone photoreceptor G-protein alpha-subunit gene GNAT2 in patients with achromatopsia. Am J Hum Genet. 2002 Aug;71(2):422-5. doi: 10.1086/341835. Epub 2002 Jun 20.
Results Reference
background
PubMed Identifier
25205868
Citation
Zein WM, Jeffrey BG, Wiley HE, Turriff AE, Tumminia SJ, Tao W, Bush RA, Marangoni D, Wen R, Wei LL, Sieving PA. CNGB3-achromatopsia clinical trial with CNTF: diminished rod pathway responses with no evidence of improvement in cone function. Invest Ophthalmol Vis Sci. 2014 Sep 9;55(10):6301-8. doi: 10.1167/iovs.14-14860.
Results Reference
result
Links:
URL
http://clinicalstudies.info.nih.gov/cgi/detail.cgi?B_2012-EI-0167.html
Description
NIH Clinical Center Detailed Web Page
Learn more about this trial
CNTF Implants for CNGB3 Achromatopsia
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