Educational 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.

Partial list of treatment trials for children with genetic eye disorders.

Please refer to www.ClinicalTrials.gov  for more information.

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 Coordinator@MyRetinaTracker.org 1-800-683-555.  Free molecular genetic testing is also available for a large number of retinal genes through MyRetinaTracker; go to https://www.fightingblindness.org/my-retina-tracker-registry.

 

Disease Gene Status/Date Accessed Intervention Age Limit Location Contact Comment
Achromatopsia CNGB3

Recruiting

4/10/2020

rAAV2tYF-PR1.7-hCNGB3 6 y.o. Bascom Palmer Eye Institute
Miami, Florida, United States
Jill Dolgin, PharmDadvocacy@agtc.com Phase 1/2
Achromatopsia CNGA3

Recruiting

4/10/2020

AGTC-402 6 y.o.   Jill Dolgin, PharmDadvocacy@agtc.com Phase 1/2
Achromatopsia CNGA3

Recruiting

4/10/20

AAV-CNGA3 3-15 y.o. Kellogg Eye Center
Ann Arbor, Michigan, United StatesMoorfields Eye Hospital,UK 
j.bainbridge@ucl.ac.uk michel.michaelides@ucl.ac.uk  Phase 1/2
Batten disease CLN3

Recruiting

4/10/2020

Observation study N/A National Institutes of Health  An N Dang Do, M.D(301) 496-8849an.dangdo@nih.gov Observational study
Bardet-Biedl Syndrome (BBS) and Alström Syndrome (AS) 

Patients with Moderate to Severe Obesity

Recruiting

4/10/2020

setmelanotide 6 y.o Marshfield Clinic Research Foundation Deborah Tauschek715-389-3764tauschek.deborah@marshfieldresearch.org Phase 3 Trial
Pro-opiomelanocortin (POMC) Deficiency Obesity (Heterozygous or Epigenetic)Leptin Receptor Deficiency Obesity Bardet-Biedl SyndromeAlstrom Syndrome Smith-Magenis Syndrome  

Recruiting

4/10/20

setmelanotide 12 y and older
MultipleIn US  
 
Synexus clinical research US, Inc. Phoenix Southeast Chandler Arizona
spilley@rhythmtx.com Phase 3 Trial
Cerebrotendinous Xanthomatosis (CTX) CYP27A1

Recruiting

4/10/2020

Prevalence study in early-onset cataracts 2 y.o to 21 y.o.   Retrophin1-877-659-5518medinforetrophin.com Observational study
Leber Congenital Amaurosis CEP290 c.2991+1655A>GMutation(IVS26)

Recruiting

4/10/20

Sepofarson antisense oligo-nucleotide 8 yrs or older MultipleIn US +31 (0)88 1667000ProQR Clinical Trials Managerinfo@proqr.com Phase 1/2
Leber Congenital Amaurosis CEP290 c.2991+1655A>GMutation(IVS26)

Recruiting

4/10/20

AGN-151587 (EDIT-101)  3 yrs or older MultipleIn US Clinical Trials Registry Team1-877-277-8566IR-CTRegistration@allergan.com  Phase 1/2
Leber Hereditary Optic Neuropathy (LHON) G11778A

Recruiting

4/10/2020

AAV2-P1ND4v2 15 y.o.   John Guy, MDjguy@med.miami.gov Phase 1
Smith-Lemli-Opitz-Syndrome DHCR7 Recruiting
4/10/2020
Cholesterol & antioxidant supplements None   Ellen Elias, MD720-777-5401Ellen.elias@childrenscolorado.org Phase 2
Smith-Lemli-Opitz-Syndrome DHCR7 Not yet recruiting
4/10/20
Cholic acid 2-25 y.o   Ellen Elias, MD720-777-5401Ellen.elias@childrenscolorado Phase1/2
Stargardt ABCA4 Recruiting
4/10/2020
ALK-001 12 y.o. MultipleIn US Leonide Saad, PhD800-287-2755trials@alkeus.com Phase 2
Stargardt ABCA4 Recruiting
4/10/2020
Emixustat 16 y.o. MultipleIn US ClinicalTrials@acucela.com(206) 805 8310  Phase 3
X-Linked Retinitis Pigmentosa RPGR-ORF15 Recruiting
4/10/2020
rAAV2tYF-GRK1-RPGR 6 y.o.   Jill Dolgin, Pharm Dadvocacy@agtc.com Phase 1/2
X-Linked Retinitis Pigmentosa RPGR Recruiting
4/10/2020
AAV8-RPGR 10 y.o Miami, Florida, Nightstarx Limitedresearchenquiries@nightstartx.com Phase 2, 3



Updated 4/2020