First Patients Dosed in Phase 1/2 Trial Testing PTR-01 for Recessive Dystrophic Epidermolysis Bullosa

Patricia Inácio, PhD avatar

by Patricia Inácio, PhD |

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gene therapy study

Note: This story has been updated to note that the gene that codes for collagen type VII protein is the COL7A1 gene, not the C7 gene. 

A Phase 1/2 trial evaluating the investigational therapy PTR-01 for recessive dystrophic epidermolysis bullosa (RDEB) has started dosing patients.

PTR-01 is a recombinant version of the human protein collagen type VII (rC7), which is mutated in dystrophic epidermolysis bullosa patients. The therapy, developed by Phoenix Tissue Repair, is administered into the blood and is a potential disease-modifying treatment that works by replacing defective collagen type VII with healthy collagen at sites where it’s needed.

Currently, no cure or effective treatment is available for RDEB patients, but this treatment seems to effectively promote wound healing, as seen in mouse models of the condition.

The PTR-01-001 study (NCT03752905), conducted by Jean Tang, MD, PhD, is recruiting participants at Stanford University, in California. It is expected to include 14 adult patients with a mutation on both copies of the COL7A1 gene  and a history of at least one chronic wound.

Its primary goal is to determine the therapy’s safety and tolerability. Additional goals include measuring PTR-01-001’s pharmacokinetic profile — its movement into, through, and out of the body — and preliminary efficacy parameters.

The trial is divided in three parts: a first screening period of four weeks, followed by a 10-week treatment period, and an eight-week follow-up period. During the screening and follow-up, no treatment is administered.

Participants will be enrolled and divided into three cohorts of two, four, and eight patients. Each cohort will be divided into two groups of an equal number of patients.

Then, in each cohort, patients will be randomly assigned three doses of PTR-01 followed by three doses of saline solution (control), or three doses of saline solution followed by three doses of PTR-01. The doses are administered every 15 days.

“Dosing the first patient in the clinic is an important milestone for the development of PTR-01 as a potential treatment for RDEB,” Neil Kirby, president and CEO of Phoenix Tissue Repair, said in a press release.

“The community of RDEB patients, families and physicians urgently need effective treatments for this devastating disease. With an approach that aims to target the root cause of the disease, we are optimistic that PTR-01 could provide hope to patients and their families,” he added.

The U.S. Food and Drug Administration and the European Medicines Agency have granted orphan drug designation to PTR-01. The designation means that the company receives incentives, including a seven-year period of U.S. marketing exclusivity if the treatment is approved, along with other incentives.