Evidence map›Paper›PMID 36253825›Full record

Trial reportOrphanet journal of rare diseases2022

Long-term safety and efficacy of gene-corrected autologous keratinocyte grafts for recessive dystrophic epidermolysis bullosa.

Jodi Y So, Jaron Nazaroff, Chinonso V Iwummadu, Nicki Harris, Emily S Gorell, Shivali Fulchand, Irene Bailey, Daniel McCarthy, Zurab Siprashvili, M Peter Marinkovich and 2 more

Registry-linked trialOpen access · goldAbstract readClinical Trial
PubMed Full text at PMC Publisher
In one paragraph

Trial report in Orphanet journal of rare diseases, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT01263379 (A Phase 1/2A Single Center Trial of Gene Transfer for Recessive Dystrophic Epidermolysis Bullosa), which is not on this map. Cited by 30 papers.

0numbers the graph read from it
0cells of the map it votes in
30citing papers in PubMed
4.3field-weighted citation impact, top 4% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

NCT01263379 phase1 / phase2completednot on this map

A Phase 1/2A Single Center Trial of Gene Transfer for Recessive Dystrophic Epidermolysis Bullosa (RDEB) Using the Drug LZRSE-Col7A1 Engineered Autologous Epidermal Sheets (LEAES)

TypeinterventionalSponsorAbeona Therapeutics, IncRan2010 to 2022Enrolled12ConditionsEpidermolysis Bullosa Dystrophica, Epidermolysis BullosaArmsLZRSE-Col7A1 Engineered Autologous Epidermal Sheets
3 · Its place in the literature

Who cites it

30 citing papers in PubMed, 38 citations in OpenAlex.

  1. Trial
  2. Article
  3. Review
  4. Review
  5. Review
  6. Review
  7. Review
  8. Review
  9. Review
  10. Review
  11. Article
  12. Review
  13. Review
  14. Article
  15. Gene Therapies in Dermatological Diseases: A Breakthrough in Treatment.International journal of molecular sciences · 2025
    Review
  16. Review
  17. Progress in skin gene therapy: From the inside and out.Molecular therapy : the journal of the American Society of Gene Therapy · 2025
    Review
  18. Nucleic Acid Therapy for the Skin.The Journal of investigative dermatology · 2025
    Review
  19. Article
  20. Gene therapy for chronic pain management.Cell reports. Medicine · 2024
    Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

12 authors at 5 institutions in 1 country.

Jodi Y SoDepartment of Dermatology, Stanford University School of Medicine, 455 Broadway Street, Room 143, MC 5338, Redwood City, CA, 94063, USA.ORCID 0000-0002-4395-2752
Jaron NazaroffDepartment of Dermatology, Stanford University School of Medicine, 455 Broadway Street, Room 143, MC 5338, Redwood City, CA, 94063, USA.ORCID 0000-0002-4267-6776
Chinonso V IwummaduDepartment of Dermatology, Stanford University School of Medicine, 455 Broadway Street, Room 143, MC 5338, Redwood City, CA, 94063, USA.ORCID 0000-0001-9356-2237
Nicki HarrisDepartment of Dermatology, Stanford University School of Medicine, 455 Broadway Street, Room 143, MC 5338, Redwood City, CA, 94063, USA.ORCID 0000-0002-5176-2932
Emily S GorellDepartment of Dermatology, University of Cincinnati, Cincinnati, OH, USA.ORCID 0000-0002-2813-3089
Shivali FulchandDepartment of Dermatology, Stanford University School of Medicine, 455 Broadway Street, Room 143, MC 5338, Redwood City, CA, 94063, USA.ORCID 0000-0003-2918-3931
Irene BaileyDepartment of Dermatology, Stanford University School of Medicine, 455 Broadway Street, Room 143, MC 5338, Redwood City, CA, 94063, USA.ORCID 0000-0002-8502-3775
Daniel McCarthyAbeona Therapeutics Inc., New York, NY, USA.ORCID 0000-0001-9997-1066
Zurab SiprashviliDepartment of Dermatology, Stanford University School of Medicine, 455 Broadway Street, Room 143, MC 5338, Redwood City, CA, 94063, USA.ORCID 0000-0002-2814-4220
M Peter MarinkovichDepartment of Dermatology, Stanford University School of Medicine, 455 Broadway Street, Room 143, MC 5338, Redwood City, CA, 94063, USA.ORCID 0000-0001-5528-8046
Jean Y TangDepartment of Dermatology, Stanford University School of Medicine, 455 Broadway Street, Room 143, MC 5338, Redwood City, CA, 94063, USA.ORCID 0000-0002-5510-6502
Albert S ChiouDepartment of Dermatology, Stanford University School of Medicine, 455 Broadway Street, Room 143, MC 5338, Redwood City, CA, 94063, USA. achiou@stanford.edu.ORCID 0000-0002-8436-0008
Stanford University · USAbeona Therapeutics (United States) · USStanford Medicine · USUniversity of Cincinnati · USVeterans Health Administration · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundRecessive dystrophic epidermolysis bullosa (RDEB) is a rare, devastating blistering genodermatosis caused by mutations in the COL7A1 gene, which encodes for type VII collagen and is necessary for dermal-epidermal adhesion and integrity. Disease manifestations include severe and debilitating wounds, aggressive squamous cell carcinomas, and premature death; however, there are currently no approved therapies. This Phase 1/2a, open-label study evaluated the long-term efficacy and safety of gene-corrected autologous keratinocyte grafts (EB-101) for chronic RDEB wounds.

methodsAutologous keratinocytes were harvested from participants with severe RDEB, transduced with a retrovirus containing the full-length COL7A1 gene, and grown into 5 × 7 cm (35 cm

resultsSeven adult participants with severe RDEB were grafted with six sheets each (42 total sheets) onto wounds and followed for a mean of 5.9 years (range 4-8 years). Long-term improvements in wound healing and symptoms were observed. At year five, 70% (21/30) of treated sites demonstrated ≥ 50% wound healing compared to baseline by investigator global assessment. No sites with ≥ 50% wound healing were painful or pruritic, compared to 67% (6/9) of sites with < 50% wound healing (p < 0.001) at year five. Grafts were well-tolerated throughout long-term follow-up. No serious adverse events related to treatment were reported over a mean of 5.9 years of follow-up. No persistent systemic autoimmunity against type VII collagen or replication-competent retrovirus infections were identified, and no participants developed squamous cell carcinomas related to treatment during long-term follow-up.

conclusionsTreatment with EB-101 appears safe and efficacious, and produces long-term improvements in wound healing, pain, and itch for RDEB patients. Results from the Phase 3 randomized controlled trial are forthcoming.

trial registrationClinicalTrials.gov, NCT01263379. Registered December 15, 2010. https://clinicaltrials.gov/ct2/show/NCT01263379.

Indexed as

Carcinoma, Squamous CellEpidermolysis Bullosa DystrophicaAdultCollagen Type VIIHumansKeratinocytesWound HealingCOL7A1 protein, humanCollagen Type VIIBlistering diseasesClinical trialsEpidermolysis bullosaGene therapyGenetic diseasesGenodermatosesRecessive dystrophic epidermolysis bullosa

Identifiers

PMID36253825
PMCPMC9574807
OpenAlexW4306403370

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.