Natural History Study for Achromatopsia | NCT04124185

Studies
Natural History Study for Achromatopsia

NCT04124185

Sponsor

MeiraGTx UK II Ltd

Status

Completed

Last Update Posted

Jun 27, 2023Actual

Enrollment

85Actual

Phase

Not provided

Conditions

Achromatopsia

Interventions

Ocular assessments

Countries

United Kingdom

Protocol Section

Identification Module Status Module Sponsor/Collaborators Module Oversight Module Description Module Conditions Module Design Module Arms/Interventions Module Outcomes Module Eligibility Module Contacts/Locations Module References Module IPD Sharing Statement Module

Results Section

Participant Flow Module Baseline Characteristics Module Outcome Measures Module Adverse Events Module More Info Module

Annotation Section

Annotation Module

Document Section

Large Document Module

Derived Section

Miscellaneous Info Module Condition Browse Module Intervention Browse Module

Protocol Section

Identification Module

NCT ID

Results Section

No data available

No data is available for this block.

Annotation Section

No data available

No data is available for this block.

Document Section

No data available

No data is available for this block.

Derived Section

Miscellaneous Info Module

Version Holder

Status Module

Record Verification Date

Jun 2023

Overall Recruitment Status or Expanded Access Status

Completed

Last Known Status

Not provided

Delayed Posting

Not provided

Why Stopped

Not provided

Expanded Access Info

Start Date

Sep 13, 2011Actual

Primary Completion Date

May 18, 2023Actual

Completion Date

May 18, 2023Actual

First Submitted Date

Sep 10, 2019

First Submission Date that Met QC Criteria

Oct 10, 2019

First Posted Date

Oct 11, 2019Actual

Results Waived

Not provided

Results First Submitted Date

Not provided

Results First Submitted that Met QC Criteria

Not provided

Results First Posted Date

Not provided

Certification/Extension (aka Delayed Results) First Submitted Date

Not provided

Certification/Extension First Submitted that Passed QC Review

Not provided

Certification/Extension First Posted Date

Not provided

Last Update Submitted Date

Jun 26, 2023

Last Update Posted Date

Jun 27, 2023Actual

Oversight Module

Has Data Monitoring Committee (DMC)

Is FDA Regulated Drug

Is FDA Regulated Device

Is Unapproved Device

Not provided

Pediatric Postmarket Surveillance of a Device Product

Not provided

Product Exported from US

Not provided

FDAAA801 Violation

Not provided

Description Module

Brief Summary

In preparation for human clinical trials we intend to undertake a detailed phenotypic study to help to identify patients who may be suitable for therapeutic intervention. In addition, with the recent availability of advanced imaging modalities, further detailed phenotypic investigations will also be valuable in helping to probe the relationship between structure and function and may shed light on disease mechanisms.

Detailed Description

Not provided

Design Module

Study Type

Observational

Number of References to an Expanded Access Study

Not provided

Expanded Access Types

Not provided

Patient Registry

Yes

Target Follow-Up Duration

5 Years

Phases

Not provided

Interventional Study Design

Allocation

Not provided

Intervention Model

Biospecimen

Retention

Enrollment

85Actual

Arms/Interventions Module

Arm Groups

Label	Type	Description	Intervention Names
Patients with Achromatopsia			Diagnostic Test: Ocular assessments

Interventions

Name	Type	Description	Arm Group Labels	Other Names
Ocular assessments	Diagnostic Test	Complete ocular examination, Axial length and corneal curvature, Optical Coherence Tomography, Visual acuity, Contrast sensitivity	Patients with Achromatopsia

Outcomes Module

Primary Outcomes

Measure	Description	Time Frame
Complete ocular examination		5 years
Axial length		5 years
Corneal curvature		5 years
Optical Coherence Tomography		5 years
Visual acuity		5 years
Contrast sensitivity		5 years

Secondary Outcomes

Not provided

Other Outcomes

Not provided

Eligibility Module

Eligibility Criteria

Inclusion Criteria:

Patients with molecularly proven Achromatopsia or a typical clinical Achromatopsia phenotype with genetic screening pending.
Minimum subject age of 3 years.
Able to give consent/parent or guardian able to give consent.

Exclusion Criteria:

Patients unable or unwilling to undertake consent or clinical testing.
Patients unwilling to donate a blood sample in order to establish the genetic cause of their condition.

Accepts Healthy Volunteers

Sex

All

Sex/Gender Based

Not provided

Sex/Gender Description

Not provided

Minimum Age

3 Years

Maximum Age

100 Years

Standard Ages

ChildAdultOlder Adult

Study Population

Patients diagnosed with Achromatopsia

Sampling Method

Non-Probability Sample

Contacts/Locations Module

Central Contacts

Not provided

Overall Officials

Not provided

Locations

Facility	Status	City	State	ZIP	Country	Contacts
Moorfields Eye Hospital NHS Foundation Trust		London			United Kingdom

IPD Sharing Statement Module

Plan to Share IPD

Undecided

Description

Not provided

Types

Not provided

Time Frame

Not provided

Access Criteria

Not provided

URL

Not provided

Condition Browse Module

MeSH Terms

ID	Term
D003117	Color Vision Defects

Ancestor Terms

ID	Term
D014786	Vision Disorders
D012678	Sensation Disorders
D009461	Neurologic Manifestations
D009422	Nervous System Diseases

Browse Leaves

Not provided

Browse Branches

Not provided