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Development of SHP630 was discontinued based on lack of preclinical efficacy.
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The purpose of this study is to gain an understanding of how adRP progresses over time in patients with misfolded rod opsin mutations.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Arm 1 | Observation of progression of disease over time. |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Observation | Diagnostic Test | Observation of progression of disease over time |
|
| Measure | Description | Time Frame |
|---|---|---|
| Progression of disease over time in adRP patients with misfolded rod opsin mutations using ellipsoid zone (EZ) area measurements | Baseline to 4 years |
| Measure | Description | Time Frame |
|---|---|---|
| Progression of disease over time in adRP patients with misfolded rod opsin mutations as measured by EZ width | Baseline to 4 years | |
| Progression of disease over time in adRP patients with misfolded rod opsin mutations as measured by visual fields (kinetic and static) |
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Inclusion Criteria:
The subject has 1 documented pre-specified heterozygous rhodopsin gene (RHO) mutation confirmed by genetic testing (mutations will include P23H, T17M, and R135W).
The subject has at least 1 eye that meets all 3 of the following criteria:
The subject has the ability to comply with the clinical protocol, in the opinion of the investigator.
The subject has a clear ocular media and adequate pupillary dilation in both eyes to permit adequate visual assessments in the opinion of the investigator.
The subject has agreed to abstain from any protocol-prohibited medication(s) during study participation.
The subject is medically stable in the opinion of the investigator and able to fulfill the protocol requirements, including the ability to complete the assessments, without placing an undue burden on the subject/subject's family.
The subject and/or subject's parent(s) or legally authorized guardian(s) has voluntarily signed an Institutional Review Board (IRB)/ ethics committee (EC)-approved informed consent and assent form(s), as applicable, after all relevant aspects of the study have been explained and discussed with the subject and/or the subject's parent(s) or legally authorized guardian(s).
The subject, subject's parent(s), or legally authorized guardian(s) is able to understand the nature, scope, and possible consequences of the study and agrees to comply with the protocol-defined, scheduled assessments.
Exclusion Criteria:
The subject is participating in an interventional clinical trial or has participated in an interventional clinical trial within 90 days of screening; participation in non-interventional observational studies is permitted.
The subject has received treatment or has been in the treatment arm of a clinical trial for gene therapy, stem cell therapy, retinal progenitor cell therapy, tissue transplantation, device or drug delivery implantation, or other similar invasive therapy.
The subject has any of the following medical conditions that will interfere with consistent follow-up over any part of the study:
The subject has any of the following ocular conditions that could interfere with or confound follow-up of disease progression:
The subject has had intraocular surgery within 90 days prior to screening.
The subject currently requires the following protocol prohibited medications or has ingested such medication within 30 days of screening:
Plaquenil Thioridazine Clofazimine Deferoxamine Phenothiazine Chlorpromazine Cisplatin Valproic acid Any other drugs with known visual side effects
The subject has 3 first- or second-degree family members already enrolled in the study.
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Study population will come from a clinical setting where a diagnosis of adRP has been made
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| Name | Affiliation | Role |
|---|---|---|
| Shire Director | Takeda | Study Director |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Texas Retina Associates, | Dallas | Texas | 75231 | United States |
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| Label | URL |
|---|---|
| To obtain more information on the study, click here/on this link. | View source |
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De-identified individual participant data from this particular study will not be shared as there is a reasonable likelihood that individual patients could be re-identified (due to the limited number of study participants).
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| ID | Term |
|---|---|
| D012174 | Retinitis Pigmentosa |
| ID | Term |
|---|---|
| D015785 | Eye Diseases, Hereditary |
| D005128 | Eye Diseases |
| D058499 | Retinal Dystrophies |
| D012162 | Retinal Degeneration |
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Whole blood will be obtained during the pre-screening period
| Baseline to 4 years |
| Progression of disease over time in adRP patients with misfolded rod opsin mutations as measured by dark-adapted rod visual fields | Baseline to 4 years |
| Progression of disease over time in adRP patients with misfolded rod opsin mutations as measured by electroretinography (ERG): dark- and light-adapted | Baseline to 4 years |
| Progression of disease over time in adRP patients with misfolded rod opsin mutations as measured by best corrected visual acuity (BCVA) | Baseline to 4 years |
| Vision-related function and quality of life as measured by 25-item National Eye Institute Visual Function Questionnaire (NEI VFQ-25) plus its additional items | Baseline to 4 years |
| D012164 |
| Retinal Diseases |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |