Clinical Trials

Deep scientific and clinical understanding drive our approach to clinical development. Our strategy is to identify synergistic indications and to pursue treatments for conditions where there is a large unmet medical need and high potential for a meaningful benefit with gene therapy.

Through our partnerships with leading institutions, we have gained significant clinical access, providing us with an understanding of disease impact and progress as well as providing an advantage in clinical trial enrollment. This access has allowed us to scale a clinical strategy across multiple programs while still maintaining our focus on therapies for individual patients.

Through the strength of our team, we strive each day to deliver on the promise of gene therapy, bringing potentially curative therapies to patients living with devastating diseases.


Ocular

AAV-RPE65 

An open label, dose escalation Phase 1/2 clinical trial of AAV-RPE65 in both adult and pediatric patients is ongoing. In the dose escalation phase of the trial, up to 18 adult participants may be administered one of three different escalating doses. Once an acceptable dose is established in adults, up to nine children may be treated. The trial is being conducted at sites in the U.S. and the U.K.

The primary endpoint of this open-label, dose-escalation clinical trial is the safety of delivering AAV-RPE65 through subretinal injection in patients with RPE65-deficiency. Secondary endpoints include the outcomes of a range of functional tests and detailed structural analysis of the retina.

Additionally, we have an ongoing natural history study of patients with RPE65 deficiency that allows us to collect structural and function data on the same endpoints as the clinical trial.

The FDA and EMA each granted orphan status to AAV-RPE65 for the treatment of Leber’s Congenital Amaurosis (LCA). LCA is a group of autosomal recessive, early-onset retinal dystrophies that cause severe sight impairment in childhood. Sixteen percent of all LCA cases are due to mutations in the RPE65 gene. The FDA also granted AAV-RPE65 rare pediatric disease designation for the treatment of inherited retinal dystrophy due to biallelic RPE65 mutations.

View clinical trial information here

AAV-RPGR (X-linked RP)

We are currently conducting an open-label, dose-escalation Phase 1/2 clinical trial of AAV-RPGR in adult and pediatric patients with mutations in RPGR open reading frame 15 (RPGR-ORF15). In the dose escalation phase of the trial, up to 18 adult participants may be administered one of three different escalating doses. Once an acceptable dose is established in adults, up to 12 children may be treated. This trial is being conducted at sites in the U.S. and U.K.

The primary endpoint of this clinical trial is the safety of delivering AAV-RPGR through subretinal injection. Secondary endpoints include the outcomes of a range of functional tests and detailed structural analysis of the retina, including structural analysis of individual photoreceptors.

We also have an ongoing natural history study in XLRP caused by mutations in RPGR-ORF15. The study includes approximately 70 patients who will be followed for up to five years in order to collect structural and functional data.

AAV-RPGR has received Fast Track and Orphan Drug designations from the U.S. FDA and Orphan Medicinal Product designation from the EMA.

View clinical trial information here

AAV-CNGB3 (Achromatopsia B3)

We are conducting a Phase 1/2 clinical trial of AAV-CNGB3 in both adult and pediatric patients. In the dose escalation phase of the trial, up to 18 adult participants may be administered one of three different escalating doses. Once an acceptable dose is established in adults, up to nine children may be treated. The trial is being conducted at the Moorfields Eye Hospital in London, one of the preeminent research institutions in the world.

The primary endpoint of this open-label, dose-escalation clinical trial is the safety of a subretinal administration of AAV-CNGB3 in patients with ACHM caused by CNGB3 mutations. Secondary endpoints include the outcomes of a range of functional tests and detailed structural analysis of the retina, including structural analysis of individual photoreceptors.

Additionally, we are conducting an ongoing natural history study which follows over 90 patients with ACHM for up to five years, collecting data on the structure and function of their eye.

Our CNGB3 gene therapy product candidate, AAV-CNGB3, was granted orphan drug designation by the FDA and EMA, as well as rare pediatric disease designation by the FDA and PRIME designation by the EMA, for the treatment of achromatopsia caused by mutations in the CNGB3 gene.

View clinical trial information here


Salivary Gland

AAV-AQPI1 (Xerostomia)

We are currently conducting a Phase 1/2 dose escalation clinical trial in patients with grade 2 or 3 radiation-induced xerostomia (RIX) who remain cancer free for at least five years after receiving radiation treatment.  The aim of the trial is to determine the safety of inserting the gene for the human aquaporin water channel (hAQP1) locally into the salivary glands of RIX patients and to measure changes in salivary flow resulting from the introduction of this channel.

The FDA granted orphan drug designation for AAV-AQP1 to treat symptoms of grade 2 and grade 3 late xerostomia from parotid gland hypofunction caused by radiotherapy for cancer of the oral cavity.

View clinical trial information here