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Retrospective Natural History Study of Retinitis Pigmentosa (PHENOROD1)

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: NCT03975543
Recruitment Status : Active, not recruiting
First Posted : June 5, 2019
Last Update Posted : August 4, 2021
Sponsor:
Information provided by (Responsible Party):
SparingVision

Study Description
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Brief Summary:
This is natural history study of rods and cones degenerations in patients with Retinitis Pigmentosa (RP) caused by pathogenic mutations in RHO, PDE6A or PDE6B gene mutations.

Condition or disease
Retinitis Pigmentosa (RP)

Detailed Description:

This is a retrospective, longitudinal, observational case history study to determine the natural history of rods and cones degeneration in patients diagnosed with RP caused by pathogenic mutations in genes with selective expression in rods: rhodopsin (RHO), phosphodiesterase 6A (PDE6A) or phosphodiesterase 6B (PDE6B).

113 participants will be enrolled in this study at the single center: CHNO-CIC Quinze-Vingt Paris in France.

Study Design
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Study Type : Observational
Actual Enrollment : 113 participants
Observational Model: Cohort
Time Perspective: Retrospective
Official Title: Natural History Study of Retinitis Pigmentosa in Patient Carrying Pathogenic Mutations in RHO, PDE6A or PDE6B.
Actual Study Start Date : October 1, 2018
Actual Primary Completion Date : October 1, 2019
Estimated Study Completion Date : September 30, 2021

Resource links provided by the National Library of Medicine


Groups and Cohorts
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Outcome Measures
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Primary Outcome Measures :
  1. Visual acuity [ Time Frame: 2 years ]
    Progression of disease over time as measured by best corrected visual acuity (BCVA) (ETDRS, Snellen) and refraction

  2. Visual field [ Time Frame: 2 years ]
    Progression of disease over time as measured by visual fields (kinetic and static)

  3. Spectral Domain Optical Coherence tomography (SD-OCT) [ Time Frame: 2 years ]
    Progression of disease over time as measured by SD-OCT (EZ length, ELM length, ONL thickness, macular volume).

  4. Fundus Autofluorescence (FAF) [ Time Frame: 2 years ]
    Progression of disease as measured by FAF (Hyperautofluorescent ring)


Secondary Outcome Measures :
  1. Patients characteristics [ Time Frame: 2 years ]
    Age, gender, medical and surgical history, family history and concomitant treatments

  2. Clinical diagnosis [ Time Frame: baseline (At diagnosis) ]
    Age and description at onset, clinical signs, relevant treatments and an ophthalmological anamnesis

  3. Genetic diagnosis [ Time Frame: baseline (At diagnosis) ]
    Mutated gene, identified pathogenic mutation

  4. Electroretinogram (ERG) [ Time Frame: baseline (At diagnosis) ]
    Photopic and scotopic full field

  5. Color vision [ Time Frame: 2 years ]
    15 Hue Desaturated Lanthony


Eligibility Criteria
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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Subjects with RP caused by pathogenic mutations in RHO, PDE6A or PDE6B gene mutations.
Criteria

Inclusion Criteria:

  • Patients with RP caused by pathogenic mutations in RHO, PDE6A or PDE6B genes.

Exclusion Criteria:

  • Patients with a pathogenic mutation in any other gene known to be involved in RP.
  • Patients with any ocular disorder other than RP, likely to impact the retinal function.
Contacts and Locations
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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): NCT03975543


Locations
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France
CHNO XV-XX Paris - CIC 1423
Paris, France, 75012
Sponsors and Collaborators
SparingVision
More Information
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Responsible Party: SparingVision
ClinicalTrials.gov Identifier: NCT03975543    
Other Study ID Numbers: PHENOROD1
First Posted: June 5, 2019    Key Record Dates
Last Update Posted: August 4, 2021
Last Verified: August 2021

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by SparingVision:
Retinitis Pigmentosa
RHO
PDE6A
PDE6B
Pathogenic mutation
Retrospective
Natural History
 Retinal Disease
Eye Diseases
Blindness
Inherited Eye Diseases
Vision Disorders
Inherited Retinal Disorders
Rod-Cone Dystrophy
Additional relevant MeSH terms:
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Retinitis
Retinitis Pigmentosa
Retinal Diseases
Eye Diseases
 Eye Diseases, Hereditary
Retinal Dystrophies
Retinal Degeneration
Genetic Diseases, Inborn