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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.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| PTW-002 10 mg/g gel | Experimental | PTW-002 poloxamer hydrogel for topical administration (cutaneous use), 10 mg/g gel |
|
| Placebo | Placebo Comparator | Matching placebo poloxamer hydrogel for topical administration (cutaneous use) |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| PTW-002 10 mg/g gel | Drug | poloxamer hydrogel for topical administration |
| |
| Measure | Description | Time Frame |
|---|---|---|
| Number of adverse events (AEs)/serious adverse events (SAEs) | Baseline through Week 32 | |
| Assessment of exon 73 exclusion in COL7A1 mRNA, measured by droplet digital polymerase chain reaction (ddPCR) | Week 4 |
| Measure | Description | Time Frame |
|---|---|---|
| Change in uptake of PTW-002 by cells at the basement membrane by fluorescent in situ hybridization (FISH) analysis | Week 4 | |
| Effect of PTW-002 on wound healing by change in wound size (surface area) | Baseline through Week 16 |
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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:
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.
Female patients who have reached menarche and male patients must either practice true abstinence in accordance with their preferred and usual lifestyle, or agree to use acceptable, effective methods of contraception for up to 3 months following their last dose of IMP.
Exclusion Criteria:
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| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Ramsey Johnson | Contact | 978-726-1478 | ramsey@phoenicistx.com |
| Name | Affiliation | Role |
|---|---|---|
| Hal Landy, MD | Phoenicis Therapeutics | Study Director |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Stanford Health Care | Stanford | California | 94305 | United States |
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| Placebo |
| Drug |
placebo poloxamer hydrogel for topical administration |
|
| Effect of PTW-002 on skin strength by onset of (re)blistering of a healed wound | Baseline through Week 16 |
| Systemic exposure through serum levels of PTW-002 after topical administration to the target wound area (TWA) | Baseline through Week 32 |
| Effect of PTW-002 on the presence of collagen type VII protein measured by immunofluorescent staining | Week 8 |
| Effect of PTW-002 on the presence of anchoring fibrils measured by electron microscopy | Week 8 |
| UMass Memorial Medical Center | Worcester | Massachusetts | 01655 | United States |
|
| Cincinnati Children's Hospital | Cincinnati | Ohio | 45229 | United States |
|
| ID | Term |
|---|---|
| D016108 | Epidermolysis Bullosa Dystrophica |
| D004820 | Epidermolysis Bullosa |
| ID | Term |
|---|---|
| D012868 | Skin Abnormalities |
| D000013 | Congenital Abnormalities |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D012873 | Skin Diseases, Genetic |
| D030342 | Genetic Diseases, Inborn |
| D003095 | Collagen Diseases |
| D003240 | Connective Tissue Diseases |
| D017437 | Skin and Connective Tissue Diseases |
| D012871 | Skin Diseases |
| D012872 | Skin Diseases, Vesiculobullous |
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| ID | Term |
|---|---|
| D005782 | Gels |
| ID | Term |
|---|---|
| D003102 | Colloids |
| D045424 | Complex Mixtures |
| D004304 | Dosage Forms |
| D004364 | Pharmaceutical Preparations |
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