Working…
ClinicalTrials.gov
ClinicalTrials.gov Menu

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

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.
 
ClinicalTrials.gov Identifier: NCT02926092
Recruitment Status : Terminated (Development of SHP630 was discontinued based on lack of preclinical efficacy.)
First Posted : October 6, 2016
Last Update Posted : October 21, 2019
Sponsor:
Information provided by (Responsible Party):
Shire

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.

Condition or disease Intervention/treatment
Retinitis Pigmentosa Diagnostic Test: Observation

Layout table for study information
Study Type : Observational
Actual Enrollment : 1 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: A Prospective, Multicenter, Longitudinal, Observational Natural History Study to Evaluate Disease Progression in Subjects With Autosomal Dominant Retinitis Pigmentosa (adRP) With Misfolded Rod Opsin Mutations
Actual Study Start Date : March 13, 2017
Actual Primary Completion Date : April 13, 2017
Actual Study Completion Date : April 13, 2017

Resource links provided by the National Library of Medicine


Group/Cohort Intervention/treatment
Arm 1
Observation of progression of disease over time.
Diagnostic Test: Observation
Observation of progression of disease over time




Primary Outcome Measures :
  1. Progression of disease over time in adRP patients with misfolded rod opsin mutations using ellipsoid zone (EZ) area measurements [ Time Frame: Baseline to 4 years ]

Secondary Outcome Measures :
  1. Progression of disease over time in adRP patients with misfolded rod opsin mutations as measured by EZ width [ Time Frame: Baseline to 4 years ]
  2. Progression of disease over time in adRP patients with misfolded rod opsin mutations as measured by visual fields (kinetic and static) [ Time Frame: Baseline to 4 years ]
  3. Progression of disease over time in adRP patients with misfolded rod opsin mutations as measured by dark-adapted rod visual fields [ Time Frame: Baseline to 4 years ]
  4. Progression of disease over time in adRP patients with misfolded rod opsin mutations as measured by electroretinography (ERG): dark- and light-adapted [ Time Frame: Baseline to 4 years ]
  5. Progression of disease over time in adRP patients with misfolded rod opsin mutations as measured by best corrected visual acuity (BCVA) [ Time Frame: Baseline to 4 years ]
  6. 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 [ Time Frame: Baseline to 4 years ]

Biospecimen Retention:   Samples With DNA
Whole blood will be obtained during the pre-screening period


Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.


Layout table for eligibility information
Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Study population will come from a clinical setting where a diagnosis of adRP has been made
Criteria

Inclusion Criteria:

  1. The subject has 1 documented pre-specified heterozygous rhodopsin gene (RHO) mutation confirmed by genetic testing (mutations will include P23H, T17M, and R135W).
  2. The subject has at least 1 eye that meets all 3 of the following criteria:

    1. 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
    2. 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).
    3. A kinetic VF of greater than 10 degrees diameter in the horizontal meridian with a spot size of III
  3. The subject has the ability to comply with the clinical protocol, in the opinion of the investigator.
  4. 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.
  5. The subject has agreed to abstain from any protocol-prohibited medication(s) during study participation.
  6. 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.
  7. 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).
  8. 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:

  1. 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.
  2. 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.
  3. The subject has any of the following medical conditions that will interfere with consistent follow-up over any part of the study:

    1. Stroke
    2. Severe or unstable coronary disease
    3. End-stage or aggressive malignancy
    4. 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
  4. 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
    • Acute infection or inflammation
    • Any ocular condition that in the opinion of the investigator would interfere with the ability to assess retinal morphology and functionality
  5. The subject has had intraocular surgery within 90 days prior to screening.
  6. 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

  7. The subject has 3 first- or second-degree family members already enrolled in the study.

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): NCT02926092


Locations
Layout table for location information
United States, Texas
Texas Retina Associates,
Dallas, Texas, United States, 75231
Sponsors and Collaborators
Shire
Investigators
Layout table for investigator information
Study Director: Shire Director Shire
Layout table for additonal information
Responsible Party: Shire
ClinicalTrials.gov Identifier: NCT02926092    
Other Study ID Numbers: SHP630-001
First Posted: October 6, 2016    Key Record Dates
Last Update Posted: October 21, 2019
Last Verified: October 2019
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No
Plan Description: 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).
Additional relevant MeSH terms:
Layout table for MeSH terms
Retinitis
Retinitis Pigmentosa
Retinal Diseases
Eye Diseases
Eye Diseases, Hereditary
Retinal Dystrophies
Retinal Degeneration
Genetic Diseases, Inborn