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Completed

NCT Number: NCT04599881

A Study of PTR-01 in Recessive Dystrophic Epidermolysis Bullosa

Protocol PTR-01-002 is a 3-part Phase 2, open-label study of PTR-01. While new patients will be enrolled, priority will be given to patients that satisfactorily completed study PTR-01-001.

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Key information

Conditions

Recessive Dystrophic Epidermolysis Bullosa Collagen Diseases Congenital Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities Connective Tissue Diseases Epidermolysis Bullosa Epidermolysis Bullosa Dystrophica Genetic Diseases, Inborn Skin Abnormalities Skin Diseases Skin Diseases, Genetic Skin Diseases, Vesiculobullous Skin and Connective Tissue Diseases

Age range

12 year and older

Sex eligibility

All sexes

Study type

Interventional

Phase

Phase 2

Primary location

Stanford University, Redwood City, California, United States

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About this study

Protocol PTR-01-002 is a 3-part Phase 2, open-label study of PTR-01. While new patients will be enrolled, priority will be given to patients that satisfactorily completed study PTR-01-001.

In Part 1, patients will receive a dose of 3.0 mg/kg every week for a total of 4 doses. This will be followed by Part 2 in which patients will receive a dose of 3.0 mg/kg every other week for a total of 7 doses. In Part 3, patients will be followed for 12 weeks. No investigational therapy will be administered during this time. At the end of each dosing period, an efficacy assessment will be performed. Safety will be assessed continuously throughout the study.

Following the end of Part 3, patients may be eligible for a potential long-term extension to further refine the dosing regimen, depending upon study drug availability.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

Patients must meet all of the following criteria to be eligible for study participation in the three month run in period of the study:

  • Willing to provide informed consent form, or if 12 to <18 years of age, legal guardian has provided informed consent form and the minor has signed an assent form acknowledging that they understand and agree to study procedures.
  • Has a diagnosis of RDEB based on genetic analysis and consistent with a recessive inheritance pattern.
  • Has deficient C7 staining at the dermal-epidermal junction (DEJ) by IF.
  • Agrees to use contraception as follows:

For women of childbearing potential (WOCBP) agrees to use highly effective contraceptive (including abstinence) methods from Screening, through the study, and for at least 10 weeks after the last dose of study drug. Non-childbearing potential is defined as a female who meets either of the following criteria: age ≥50 years and no menses for at least 1 year or documented hysterectomy, bilateral tubal ligation, or bilateral oophorectomy.

For males, agrees to use a condom with any WOCBP sexual partner from Day 1 of study treatment, through the study, and at least 10 weeks after the last dose of study drug.

  • Be willing and able to comply with this protocol.

Exclusion criteria

Patients with any of the following will be excluded from participation in the study:

  • Has known systemic hypersensitivity to any of the inactive ingredients in PTR-01.
  • Has previously had an anaphylactic reaction to PTR-01.
  • Is pregnant or nursing.
  • Has received in the last six months any investigational gene therapy product or in the last three months any non-gene therapy investigational products.
  • Is anticipated to receive new regimens of antibiotics or other anti-infectives during the trial.
  • Has any other medical or personal condition that, in the opinion of the Investigator, may potentially compromise the safety or compliance of the patient, or may preclude the patient's

Treatment and study plan

PTR-01

Drug

IV recombinant collagen 7 at 3 mg/kg given weekly for 4 doses, followed by bi-weekly for 7 doses

Other names: Recombinant collagen 7, rC7

Primary outcomes

  1. Wound healing

    Time frame: Up to 162 days

    Change in a majority of target lesions of at least 2 levels using a 7-point (1-7) Global Impression of Change instrument (7 being the worst)

  2. Incidence of treatment-emergent adverse events

    Time frame: Up to 162 days

    Safety and tolerability, as assessed by treatment-emergent adverse events

  3. Incidence of infusion-associated reactions

    Time frame: Up to 162 days

    Safety and tolerability, as assessed by infusion-associated reactions (IAR)

  4. Incidence of anti-drug antibodies (ADA)

    Time frame: Up to 162 days

    Safety and tolerability, as assessed by immunogenicity through anti-drug antibody (ADA) testing

Secondary outcomes

  1. Delivery of PTR-01 to skin

    Time frame: Up to 162 days

    PTR-01 incorporation by immunofluorescence using NC1 & NC2 staining, by dose frequency period

  2. Formation of anchoring fibrils

    Time frame: Up to 162 days

    Formation of new anchoring fibrils as measured by electron microscopy

  3. Change in wound surface area, as assessed by wound imaging

    Time frame: Up to 162 days

    Wound area of target lesions, as assessed by wound imaging

  4. Change in wound surface area, as assessed by Investigator Global Impression of Change (IGIC)

    Time frame: Up to 162 days

    Wound area of target lesions, as assessed by IGIC

  5. Change in total body wound surface area

    Time frame: Up to 162 days

    Change in total body wound surface area, using Rule of Nines

  6. Change in skin integrity, as assessed by suction blister time

    Time frame: Up to 162 days

    Change in skin integrity, as assessed by suction blister time

  7. Change in skin integrity, as assessed by time to re-blistering

    Time frame: Up to 162 days

    Change in skin integrity, as assessed by time to re-blistering

  8. Change in itch severity, as assessed by modified Patient-Reported Outcome Measurement Information System (PROMIS) itch domains

    Time frame: Up to 162 days

    Severity of itch, as assessed by modified Patient-Reported Outcome Measurement Information System (PROMIS) itch domains

  9. Change in itch severity, as assessed by the Instrument for Scoring Clinical Outcomes for Research of Epidermolysis Bullosa (iscorEB)

    Time frame: Up to 162 days

    Severity of itch, as assessed by Instrument for Scoring Clinical Outcomes for Research of Epidermolysis Bullosa (iscorEB), maximum score of 234 (worst)

  10. Change in the impact of itch on quality of life

    Time frame: Up to 162 days

    Change in the impact of itch on quality of life, as assessed by the Pruritus-Specific Quality of Life Instrument (ItchyQoL), maximum score of 110 (worst)

  11. Change in pain severity, as assessed by modified Patient-Reported Outcome Measurement Information System (PROMIS) pain domains

    Time frame: Up to 162 days

    Change in pain severity, as assessed by Patient-Reported Outcome Measurement Information System (PROMIS) pain domains

  12. Change in pain severity, as assessed by the Instrument for Scoring Clinical Outcomes for Research of Epidermolysis Bullosa (iscorEB)

    Time frame: Up to 162 days

    Change in pain severity, as assessed by the Instrument for Scoring Clinical, maximum score of 234 (worst)

  13. Change in the impact of pain on quality of life

    Time frame: Up to 162 days

    Change in the impact of pain on quality of life, as assessed by the Instrument for Scoring Clinical Outcomes for Research of Epidermolysis Bullosa (iscorEB) instrument, maximum score of 234 (worst)

  14. Change of dysphagia, as assessed using the Brief Esophageal Dysphagia Questionnaire

    Time frame: Up to 162 days

    Change of dysphagia, as assessed using the Brief Esophageal Dysphagia Questionnaire, maximum score is 40 (worst)

  15. Change in dysphagia, as assessed by volume of oral nutritional intake

    Time frame: Up to 162 days

    Change of dysphagia, as assessed by volume of oral nutritional intake, using patient interview and diary, maximum score is 40 (worst)

  16. Stabilization of dysphagia, as assessed using the Brief Esophageal Dysphagia Scale

    Time frame: Up to 162 days

    Stabilization of dysphagia, as assessed using the Brief Esophageal Dysphagia Scale

  17. Stabilization of dysphagia, as assessed by volume oral nutritional intake

    Time frame: Up to 162 days

    Stabilization of dysphagia, as assessed by volume oral nutritional intake, using patient interview and diary

  18. Change in corneal symptoms

    Time frame: Up to 162 days

    Change of corneal symptoms (eye symptoms), as assessed by the Epidermolysis Bullosa Eye Disease Index (EB-EDI)

  19. Stabilization of corneal symptoms

    Time frame: Up to 162 days

    Stabilization of corneal symptoms (eye symptoms), as assessed by the Epidermolysis Bullosa Eye Disease Index (EB-EDI)

  20. Rate of change in nutritional markers (hemoglobin/hematocrit)

    Time frame: Up to 162 days

    Change of nutritional markers, as assessed by hemoglobin/hematocrit

  21. Rate of change in nutritional markers (total protein/albumin)

    Time frame: Up to 162 days

    Change of nutritional markers, as assessed by total protein/albumin

  22. Rate of change in nutritional markers (iron/TIBC)

    Time frame: Up to 162 days

    Change of nutritional markers, as assessed by iron/TIBC

  23. Rate of change in nutritional markers (C-reactive protein)

    Time frame: Up to 162 days

    Change of nutritional markers, as assessed by C-reactive protein

  24. Rate of stabilization of nutritional markers (hemoglobin/hematocrit)

    Time frame: Up to 162 days

    Stabilization of nutritional markers, as assessed by hemoglobin/hematocrit

  25. Rate of stabilization of nutritional markers (total protein/albumin)

    Time frame: Up to 162 days

    Stabilization of nutritional markers, as assessed by total protein/albumin

  26. Rate of stabilization of nutritional markers (iron/TIBC)

    Time frame: Up to 162 days

    Stabilization of nutritional markers, as assessed by iron/TIBC

  27. Rate of stabilization of nutritional markers (C-reactive protein)

    Time frame: Up to 162 days

    Stabilization of nutritional markers, as assessed by C-reactive protein

  28. Change in Investigator Global Impressions of Change (IGIC)

    Time frame: Up to 162 days

    Global impressions of change, as assessed through IGIC (1-7), 7 being worst

  29. Change in Investigator Patient Impressions of Change (PGIC)

    Time frame: Up to 162 days

    Global impressions of change, as assessed through PGIC (1-7), 7 being worst

  30. Change in disease activity and scarring

    Time frame: Up to 162 days

    Change in disease activity and scarring, as assessed by the Epidermolysis Bullosa Disease Activity and Scarring Index (EBDASI)

  31. Change in overall quality of life, as assessed by the Quality of Life in Epidermolysis Bullosa (QOLEB) questionnaire

    Time frame: Up to 162 days

    Change in overall quality of life, as assessed by the Quality of Life in Epidermolysis Bullosa (QOLEB) questionnaire

  32. Change in overall health

    Time frame: Up to 162 days

    Change in overall disability, as assessed by the Health Assessment Questionnaire or Children's Health Assessment Questionnaire (HAQ/CHAQ)

  33. Change in mental health

    Time frame: Up to 162 days

    Change in mental health and social functioning, as assessed by the Patient-Reported Outcomes Measurement Information System (PROMIS) mental health domains

  34. Change in social function

    Time frame: Up to 162 days

    Change in mental health and social functioning, as assessed by the Patient-Reported Outcomes Measurement Information System (PROMIS) social function domains

  35. Change in amount of wound care

    Time frame: Up to 162 days

    Change in amount of wound care, as assessed by patient interviews

  36. Change in time for wound care

    Time frame: Up to 162 daysUp to 162 days

    Change in time for wound care, as assessed by patient interviews

  37. Change in cost of wound care

    Time frame: Up to 162 days

    Change in cost of wound care, as assessed by patient interviews

  38. Change in overall patient impression of quality of life

    Time frame: Up to 162 days

    Change in overall quality of life, as assessed by patient interviews

  39. Change in overall patient impression of disability

    Time frame: Up to 162 days

    Change in overall disability, as assessed by patient interviews

Other outcomes

  1. Genotype/phenotype relationships

    Time frame: Up to 162 days

    Correlation between genotype (genetic mutation) and severity of disease

  2. Impact of pharmacokinetics on safety outcomes

    Time frame: Up to 162 days

    Correlate Cmax and Area Under the Curve (AUC) with treatment emergent adverse events, infusion associated reactions and immune-mediated reactions

  3. Impact of pharmacokinetics on efficacy outcomes

    Time frame: Up to 162 days

    Correlate Cmax and AUC with wound healing

  4. Impact of pharmacokinetics on pharmacodynamic outcomes

    Time frame: Up to 162 days

    Correlate Cmax and AUC with suction blister time, C7 immunofluorescence on biopsy and formation of anchoring fibrils by electron microscopy

Sponsors and collaborators

Lead sponsor

Phoenix Tissue Repair, Inc.

Industry

Registry information

Official study title

A Phase 2 Open-Label Study of PTR-01 in Patients With Recessive Dystrophic Epidermolysis Bullosa (RDEB)

Important dates

Study start
2020
Primary completion
2021
Study completion
2021
First posted
Oct 23, 2020
Registry last updated
Sep 16, 2021

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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