NCT03975543

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.

Trial Health

43
At Risk

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Trial has exceeded expected completion date
Enrollment
113

participants targeted

Target at P50-P75 for all trials

Timeline
Completed

Started Oct 2018

Typical duration for all trials

Geographic Reach
1 country

1 active site

Status
unknown

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Start

First participant enrolled

October 1, 2018

Completed
8 months until next milestone

First Submitted

Initial submission to the registry

June 4, 2019

Completed
1 day until next milestone

First Posted

Study publicly available on registry

June 5, 2019

Completed
4 months until next milestone

Primary Completion

Last participant's last visit for primary outcome

October 1, 2019

Completed
2 years until next milestone

Study Completion

Last participant's last visit for all outcomes

September 30, 2021

Completed
Last Updated

August 4, 2021

Status Verified

August 1, 2021

Enrollment Period

1 year

First QC Date

June 4, 2019

Last Update Submit

August 3, 2021

Conditions

Retinitis Pigmentosa (RP)

Keywords

Retinitis PigmentosaRHOPDE6APDE6BPathogenic mutationRetrospectiveNatural HistoryRetinal DiseaseEye DiseasesBlindnessInherited Eye DiseasesVision DisordersInherited Retinal DisordersRod-Cone Dystrophy

Outcome Measures

Primary Outcomes (4)

  • Visual acuity

    Progression of disease over time as measured by best corrected visual acuity (BCVA) (ETDRS, Snellen) and refraction

    2 years

  • Visual field

    Progression of disease over time as measured by visual fields (kinetic and static)

    2 years

  • Spectral Domain Optical Coherence tomography (SD-OCT)

    Progression of disease over time as measured by SD-OCT (EZ length, ELM length, ONL thickness, macular volume).

    2 years

  • Fundus Autofluorescence (FAF)

    Progression of disease as measured by FAF (Hyperautofluorescent ring)

    2 years

Secondary Outcomes (5)

  • Patients characteristics

    2 years

  • Clinical diagnosis

    baseline (At diagnosis)

  • Genetic diagnosis

    baseline (At diagnosis)

  • Electroretinogram (ERG)

    baseline (At diagnosis)

  • Color vision

    2 years

Eligibility Criteria

Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodNon-Probability Sample
Study Population

Subjects with RP caused by pathogenic mutations in RHO, PDE6A or PDE6B gene mutations.

You may qualify if:

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

You may not qualify if:

  • 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.

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

CHNO XV-XX Paris - CIC 1423

Paris, 75012, France

Location

MeSH Terms

Conditions

Retinitis PigmentosaRetinal DiseasesEye DiseasesBlindnessVision DisordersCone-Rod Dystrophies

Condition Hierarchy (Ancestors)

Eye Diseases, HereditaryRetinal DystrophiesRetinal DegenerationGenetic Diseases, InbornCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesSensation DisordersNeurologic ManifestationsNervous System DiseasesSigns and SymptomsPathological Conditions, Signs and Symptoms

Study Design

Study Type
observational
Observational Model
COHORT
Time Perspective
RETROSPECTIVE
Sponsor Type
INDUSTRY
Responsible Party
SPONSOR

Study Record Dates

First Submitted

June 4, 2019

First Posted

June 5, 2019

Study Start

October 1, 2018

Primary Completion

October 1, 2019

Study Completion

September 30, 2021

Last Updated

August 4, 2021

Record last verified: 2021-08

Locations

FR(1)