Patient Resources

Current Gene Therapy Trials

Clinical Trials For Genetic Eye Disorders

AAPOS has no financial interest in any clinical trials. AAPOS does not promote any particular study, and does not endorse any study. Clinical trials by definition offer treatments that have not been tested and may or may not benefit patients who enroll. This list is not all inclusive. For further information on clinical trials, please go to clinicaltrials.gov.

There are many more gene therapy trials for patients 18 years and older. There is also a registry and natural history observational study for many retinal degenerations. For more information contact Joan Fisher by email or at 1-800-683-555

Disease

Gene

Status

Intervention

Age Limit

Contact

Comment

Achromatopsia

CNGB3

Recruiting

rAAV2tYF-PR1.7-hCNGB3

6 y.o.

Jill Dolgin, PharmD

advocacy@agtc.com

Phase 1/2

Achromatopsia

CNGA3

Recruiting

AGTC-402

6 y.o.

Jill Dolgin, PharmD

advocacy@agtc.com

Phase 1/2

Achromotopsia

CNGA3

Not yet recruiting

AAV-CNGA3

3-15 y.o.

ocularinfo@meiragtx.com

 

Albinism

OCA

Recruiting

Dopamine

3 y.o.

Angie Wealti

608-265-7557

wealti@ophth.wisc.edu

Phase 2

Cerebrotendinous Xanthomatosis (CTX)

CYP27A1

Recruiting

Prevalence study in early-onset cataracts

2 y.o to 21 y.o.

Retrophin

1-877-659-5518

medinforetrophin.com

Observational study

Leber Hereditary Optic Neuropathy (LHON)

G11778A

Recruiting

AAV2-P1ND4v2

15 y.o.

John Guy, MD

jguy@med.miami.gov

Phase 1

Smith-Lemli-Opitz-Syndrome

DHCR7

Recruiting

Cholesterol & antioxidant supplements

None

Ellen Elias, MD

720-777-5401

Ellen.elias@childrenscolorado.org

Phase 2

Smith-Lemli-Opitz-Syndrome

DHCR7

Not yet recruiting

Cholic acid

2-25 y.o

Ellen Elias, MD

720-777-5401

Ellen.elias@childrenscolorado

Phase1/2

Stargardt

ABCA4

Recruiting

SAR422459

6 y.o.

Contact-Us@sanfoni.com

Phase 1/2

Stargardt

ABCA4

Recruiting

ALK-001

12 y.o.

Leonide Saad, PhD

800-287-2755

trials@alkeus.com

Phase 2

Stargardt

ABCA4

Recruiting

Emixustat

16 y.o.

ClinicalTrials@acucela.com

 

X-Linked Retinitis Pigmentosa

RPGR-ORF15

Recruiting

rAAV2tYF-GRK1-RPGR

6 y.o.

Jill Dolgin, Pharm D

advocacy@agtc.com

Phase 1/2


Updated 2/2019