Observational Natural History Study of Autosomal Dominant Retinitis Pigmentosa (adRP)

NCT02926092 | Terminated

• 1 other identifier: SHP630-001
• Study Type: observational
• Target: 1
• Locations: 1 country
• Sites: 1

Brief Summary

The purpose of this study is to gain an understanding of how adRP progresses over time in patients with misfolded rod opsin mutations.

Conditions

Retinitis Pigmentosa

Outcome Measures

Primary Outcomes (1)

• Progression of disease over time in adRP patients with misfolded rod opsin mutations using ellipsoid zone (EZ) area measurements

  Baseline to 4 years

Secondary Outcomes (6)

• 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)

  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

Study Arms (1)

Arm 1

Observation of progression of disease over time.

Diagnostic Test: Observation

Interventions

Observation DIAGNOSTIC_TEST

Observation of progression of disease over time

Arm 1

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Study population will come from a clinical setting where a diagnosis of adRP has been made

You may qualify if:

• 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:
• A measurable EZ area as determined by an evaluation of EZ limits on sdOCT scan, with a horizontal EZ width of greater than 3 mm
• BCVA of greater than or equal to 35 letters as measured by the Early Treatment Diabetic Retinopathy Study (ETDRS; equivalent to 20/200 on a Snellen chart).
• A kinetic VF of greater than 10 degrees diameter in the horizontal meridian with a spot size of III
• 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.

You may not qualify if:

• 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:
• Stroke
• Severe or unstable coronary disease
• End-stage or aggressive malignancy
• General poor health or uncontrolled or severe disease (eg, cardiovascular, neurological, psychological, pulmonary,renal, hepatic, endocrine, or gastrointestinal disorders) that in the opinion of the investigator would interfere with participation in the study
• The subject has any of the following ocular conditions that could interfere with or confound follow-up of disease progression:
• Glaucoma
• Diabetic retinopathy
• Choroidal neovascularization
• Retinal inflammatory disease
• Cataract worse than grade 2 (nuclear, posterior subcapsular \[PSC\], or cortical)
• High myopia (≥8 diopters)
• Herpes simplex virus of the eye

Sponsors & Collaborators

• Shire: lead

Study Sites (1)

Texas Retina Associates,

Dallas, Texas, 75231, United States

Location

Related Links

• To obtain more information on the study, click here/on this link.

Biospecimen

Retention: SAMPLES WITH DNA

Whole blood will be obtained during the pre-screening period

MeSH Terms

Conditions

Retinitis Pigmentosa

Condition Hierarchy (Ancestors)

Eye Diseases, Hereditary; Eye Diseases; Retinal Dystrophies; Retinal Degeneration; Retinal Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Officials

• Shire Director

  Takeda

  STUDY DIRECTOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: October 5, 2016
• First Posted: October 6, 2016
• Study Start: March 13, 2017
• Primary Completion: April 13, 2017
• Study Completion: April 13, 2017
• Last Updated: March 17, 2021

Record last verified: 2021-03

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)