Natural History Study for Achromatopsia

MeiraGTx

Status: Completed

Conditions: Achromatopsia

Treatments: Diagnostic Test: Ocular assessments

Study type: Observational

Funder types: Industry

Identifiers

NCT04124185

MGT008

Details and patient eligibility

About

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.

Enrollment: 85 patients

Sex: All

Ages: 3 to 100 years old

Volunteers: No Healthy Volunteers

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.

Trial design

85 participants in 1 patient group

Patients with Achromatopsia

Treatment:

Diagnostic Test: Ocular assessments