Trial record 1 of 1 for:
NCT03396042
Natural History Study of CEP290-Related Retinal Degeneration
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| ClinicalTrials.gov Identifier: NCT03396042 |
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Recruitment Status :
Recruiting
First Posted : January 10, 2018
Last Update Posted : September 28, 2020
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Sponsor:
Allergan
Collaborator:
Editas Medicine, Inc.
Information provided by (Responsible Party):
Allergan
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Brief Summary:
A prospective natural history study with systematic assessments and uniform follow-up to provide a high-quality dataset for assisting in the design of future clinical treatment trials involving patients with CEP290-related retinal degeneration caused by the common intron 26 mutation.
| Condition or disease |
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| Blindness Leber Congenital Amaurosis 10 Vision Disorders Eye Diseases Eye Diseases, Hereditary Eye Disorders Congenital Retinal Disease Retinal Degeneration |
The purpose of the study is to describe the natural history of CEP290-related retinal degeneration caused by a compound heterozygous or homozygous intron 26 c.2991+1655A>G mutation and to better understand the best assessments for evaluation of patients with this condition in a future interventional trial. Patients meeting the entry criteria will be enrolled in the study. Visits will occur at Screening, Baseline, and Months 3, 6, and 12, for a total duration of 1 year.
| Study Type : | Observational |
| Estimated Enrollment : | 40 participants |
| Observational Model: | Cohort |
| Time Perspective: | Prospective |
| Official Title: | Natural History Study of CEP290-Related Retinal Degeneration |
| Actual Study Start Date : | December 17, 2017 |
| Estimated Primary Completion Date : | December 31, 2020 |
| Estimated Study Completion Date : | December 31, 2020 |
Resource links provided by the National Library of Medicine
| Group/Cohort |
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Group 1
5 Patient target, ages 3 to 5 yr, with visual acuity Light Perception (LP) to <=20/200
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Group 2
5 Patient target, ages 3 to 5 yr, with visual acuity >20/200 to <=20/50
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Group 3
5 Patient target, ages 6 to 11 yr, with visual acuity LP to <=20/200
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Group 4
5 Patient target, ages 6 to 11 yr, with visual acuity >20/200 to <=20/50
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Group 5
5 Patient target, ages 12 to 17 yr, with visual acuity LP to <=20/200
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Group 6
5 Patient target, ages 12 to 17 yr, with visual acuity >20/200 to <=20/50
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Group 7
5 Patient target, ages 18yr and older, with visual acuity LP to <=20/200
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Group 8
5 Patient target, ages 18yr and older, with visual acuity >20/200 to <=20/50
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Primary Outcome Measures :
- Characterize CEP290-related retinal degeneration [ Time Frame: Through 12 months ]To prospectively characterize CEP290-related retinal degeneration and the clinical phenotype of patients with either compound heterozygous or homozygous intron 26 c.2991+1655A>G mutations
Biospecimen Retention: Samples With DNA
Blood sampling for genetic testing of the CEP290 gene, including coding and intron 26 sequences, as part of a 280-gene retinal dystrophy gene panel.
Information from the National Library of Medicine
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| Ages Eligible for Study: | 3 Years to 99 Years (Child, Adult, Older Adult) |
| Sexes Eligible for Study: | All |
| Accepts Healthy Volunteers: | No |
| Sampling Method: | Non-Probability Sample |
Study Population
The indication for this study is CEP290-related retinal degeneration caused by a compound heterozygous or homozygous intron 26 c.2991+1655A>G mutation.
Criteria
Inclusion Criteria:
- Patient and/or parent/legal guardian must complete/sign an informed consent form (ICF). If required on a per patient basis, provisions can be made for alternative forms of consent (eg, witnessed consent). Where required by the IRB/IEC, minors must also verbalize or sign a confirmation of assent. Refer to Section 11.3.
- Is at least 3 years of age at screening.
- Has abnormally decreased vision, defined as having light perception to 20/50 visual acuity in each eye, with examination and test results consistent with an inherited retinal degeneration due to mutations in the CEP290 gene.
- Has CEP290-related retinal degeneration caused by a compound heterozygous or homozygous intron 26 c.2991+1655A>G mutation (ie, 1 or 2 copies of the intron 26 c.2991+1655A>G mutation) confirmed by deoxyribonucleic acid sequencing.
- Has ability to cooperate with assessments relative to age.
- Has clear ocular media and adequate pupil dilation in at least 1 eye, to permit good quality fundus examination and optical coherence tomography (OCT) imaging.
- Must be able to successfully navigate the mobility courses at a level of difficulty that is below the maximum performance level (ie, below a passing score at 1) with each eye independently and both eyes together in the order specified by Investigator.
Exclusion Criteria:
- Has history or current evidence of a medical condition (systemic or ophthalmic disease, metabolic dysfunction, physical examination finding, or clinical laboratory finding) that may, in the opinion of the Investigator, preclude adherence to the scheduled study visits, safe participation in the study, or affect the results of the study (eg, uncontrolled systemic hypertension, autoimmune disease, advanced coronary artery disease, or cerebral vascular disease, other unstable or progressive cardiovascular, pulmonary, Parkinson's, liver or renal disease, cancer, or dementia).
- Has history or current evidence of ocular disease in either eye that, in the opinion of the Investigator, may confound assessment of this inherited retinal disease or the assessments utilized herein (eg, glaucoma, age-related macular degeneration, diabetic retinopathy, uveitis, or the presence of any condition that precludes adequate visualization of the fundus such as dense cataracts or corneal scarring).
- Is currently receiving gene therapy and/or has received gene therapy.
- Is currently enrolled in an investigational or interventional drug or device study and/or has participated in such a study within 30 days of Screening.
Information from the National Library of Medicine
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03396042
Contacts
| Contact: Clinical Trial Registry Team | 877-277-8566 | IR-CTRegistration@allergan.com |
Locations
| United States, Florida | |
| Bascom Palmer Eye Institute | Recruiting |
| Miami, Florida, United States, 33136 | |
| Contact: Site Coordinator 305-326-6021 | |
| Principal Investigator: Byron Lam | |
| United States, Massachusetts | |
| Massachusetts Eye and Ear Infirmary | Recruiting |
| Boston, Massachusetts, United States, 02114 | |
| Contact: Site Coordinator 617-573-6060 | |
| Principal Investigator: Eric Pierce | |
| United States, Michigan | |
| W.K. Kellogg Eye Center | Recruiting |
| Ann Arbor, Michigan, United States, 48105 | |
| Contact: Site Coordinator 734-232-8080 | |
| Principal Investigator: Thiran Jayasundera | |
| United States, Oregon | |
| Casey Eye Institute - OHSU | Recruiting |
| Portland, Oregon, United States, 97239 | |
| Contact: Site Coordinator 503-494-8386 | |
| Principal Investigator: Mark Pennesi | |
| France | |
| Universite Pierre et Marie Curie | Active, not recruiting |
| Paris, France, 75252 | |
| Germany | |
| Universitaetsklinikum Giessen and Marburg GmbH | Terminated |
| Giessen, Germany, 35392 | |
| Netherlands | |
| Radboud Universitair Medisch Centrum | Recruiting |
| Nijmegen, Gelderland, Netherlands, 6525 | |
| Contact: Site Coordinator +31 (0)24 3613212 | |
| Principal Investigator: Carel Hoyng | |
Sponsors and Collaborators
Allergan
Editas Medicine, Inc.
Investigators
| Study Director: | Bill Bunnell | Allergan |
Additional Information:
| Responsible Party: | Allergan |
| ClinicalTrials.gov Identifier: | NCT03396042 |
| Other Study ID Numbers: |
EDIT-NHS01 |
| First Posted: | January 10, 2018 Key Record Dates |
| Last Update Posted: | September 28, 2020 |
| Last Verified: | September 2020 |
| Individual Participant Data (IPD) Sharing Statement: | |
| Plan to Share IPD: | Undecided |
| Studies a U.S. FDA-regulated Drug Product: | No |
| Studies a U.S. FDA-regulated Device Product: | No |
Keywords provided by Allergan:
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CEP290 LCA10 Retinal degenerative diseases (RDD) Leber congenital amaurosis (LCA) Congenital Retinal Blindness p.Cys998X |
c.2991+1655A>G Eye Diseases Signs and Symptoms Genetic Diseases, Inborn Congenital Abnormalities Eye Abnormalities |
Additional relevant MeSH terms:
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Blindness Vision Disorders Eye Diseases Retinal Diseases Retinal Degeneration Leber Congenital Amaurosis Eye Diseases, Hereditary Eye Abnormalities |
Genetic Diseases, Inborn Disease Pathologic Processes Sensation Disorders Neurologic Manifestations Nervous System Diseases Congenital Abnormalities |