Study of PTW-002 in Patients With Dominant or Recessive Dystrophic Epidermolysis Bullosa Due to M… (NCT05529134) | Clinical Trial Compass
UnknownPhase 1/2
Study of PTW-002 in Patients With Dominant or Recessive Dystrophic Epidermolysis Bullosa Due to Mutation(s) in Exon 73 of the COL7A1 Gene
United States8 participantsStarted 2023-04-30
Plain-language summary
A double-blind, randomized, intra-patient placebo- controlled, multiple dose study of PTW-002 evaluating safety, proof of mechanism, preliminary efficacy, and systemic exposure in patients with Dominant Dystrophic Epidermolysis Bullosa (DDEB) or Recessive Dystrophic Epidermolysis Bullosa (RDEB) due to mutation(s) in exon 73 of the COL7A1 gene. Up to two RDEB patients 4 to 17 years of age and up to 6 DDEB patients 4 years of age and older will be enrolled.
Who can participate
Age range
4 Years
Sex
ALL
See this in plain English?
AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.
Inclusion criteria
. Patients, and/or their legal guardian(s), if the patient is under the legal age of consent, must provide written Informed Consent or Assent, in accordance with national and/or local laws, prior to the conduct of any study related procedures. In addition, if applicable, a minor child must provide informed Assent in accordance with national and/or local laws and in compliance with the recommendations of the approving Institutional Review Board.
. Male or female, ≥ 4 - 17 years of age at Screening for RDEB patients, and ≥ 4 years of age at Screening for DDEB patients.
. Have a confirmed diagnosis of RDEB or DDEB and at least one pathogenic mutation in exon 73 of the COL7A1 gene. Historical genetic data may be acceptable with Medical Monitor approval.
. Have at least one TWA that shows no signs of local infection, and contains a target lesion that is either new or has shown dynamic healing in the past and complies with the following additional criteria:
Questions worth asking your doctor
Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.
1Based on my diagnosis and history, is this trial worth exploring for me — or is there a standard treatment we should try first?
2What does this trial's phase tell us about how much is already known about its safety and benefit?
3What would taking part actually involve for me — visits, tests, time, and travel?
4What are the known and possible risks or side effects I should weigh, and how would they be monitored?
5If this trial isn't the right fit, what other options or trials would you suggest I look into?
Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.
Questions for the trial coordinator
The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.
1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?
A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.
What they're measuring
1
Number of adverse events (AEs)/serious adverse events (SAEs)
Timeframe: Baseline through Week 32
2
Assessment of exon 73 exclusion in COL7A1 mRNA, measured by droplet digital polymerase chain reaction (ddPCR)
. surface area of the target lesion ranging from 5 to 30 cm2, located centrally in the selected TWA.
. exposed sub-epidermal tissue to allow absorption of the investigational medicinal product (IMP).
. no suspicion of current squamous cell carcinoma (SCC) upon visual inspection.
. Have a caregiver or support person available, who can follow study instructions in compliance with the protocol and attend study site visits with the patient as required, in the opinion of the Investigator.
Exclusion criteria
. Pregnant or breast-feeding female.
. Hemoglobin level at Screening requiring transfusion. The patient may be rescreened when the condition is considered stable.
. Use of aminoglycosides, by any route of administration, except eye drops, 7 days or 5 half-lives, whichever is longer, prior to Baseline visit.
. Untreated carcinoma of the TWA or history of carcinoma within 5 years prior to Screening, except adequately treated cutaneous squamous or basal cell carcinoma.
. Life expectancy less than 6 months, as assessed by the Investigator.
. Current or known history of clinically significant hepatic or renal disease that in the opinion of the Investigator, could impact patient safety or study participation.
. Bleeding disorder or condition, requiring the use of anticoagulants to be confirmed by activated partial thromboplastin time (aPTT) by local lab within 48 hours of first treatment.
. Use of any investigational drug or device within 28 days or 5 half-lives of the Baseline visit, whichever is longer, or plans to participate in another study of a drug or device during the study period. The washout of 5 half-lives does not apply to gene and cell therapy.