Disease · MONDO_0009179
recessive dystrophic epidermolysis bullosa
6 sourcesdiseases-2026-09-18-0.1.0
Cite this record
ConductScience Library. recessive dystrophic epidermolysis bullosa. Diseases, record MONDO_0009179. Release diseases-2026-09-18-0.1.0, 18 Sept 2026. https://conductscience.org/library/diseases/MONDO_0009179
On this page
Disease
Names and IDs as Open Targets gives them. Its IDs in MeSH, Orphanet, the Disease Ontology and the NCI Thesaurus are those Open Targets states for it.
- Other names
EBD inversa, RDEB generalisata gravis, RDEB, Hallopeau-Siemens type, RDEB-sev gen, Severe generalized RDEB, Severe generalized recessive dystrophic epidermolysis bullosa, autosomal recessive dystrophic epidermolysis bullosa generalisata gravis, autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type, epidermolysis bullosa dystrophica, AR, epidermolysis bullosa dystrophica, autosomal recessive, modifier of
- Open Targets
Drugs16
The drugs Open Targets' clinical reports study for the disease, the highest stage first, then the most trial reports. The stage is Open Targets', the highest any of its sources reports for the pair, and each row names the sources that report it.
| Drug | ChEMBL ID | Type | Open Targets' stage | Stage reported by | Reports | Of them trials | Trials shown here | Source |
|---|---|---|---|---|---|---|---|---|
| PRADEMAGENE ZAMIKERACEL | CHEMBL4594312 | Gene | Phase 3 | ClinicalTrials.gov | 2 | 2 | 2 | Drugs and targets |
| ALLANTOIN | CHEMBL593429 | Small molecule | Phase 3 | ClinicalTrials.gov | 1 | 1 | 1 | Drugs and targets |
| DABOCEMAGENE AUTOFICEL | CHEMBL4650267 | Gene | Phase 3 | ClinicalTrials.gov | 1 | 1 | 1 | Drugs and targets |
| NELITOLIMOD | CHEMBL6068457 | Oligonucleotide | Phase 3 | ClinicalTrials.gov | 1 | 1 | 1 | Drugs and targets |
| GENTAMICIN | CHEMBL6067485 | Small molecule | Phase 1/2 | ClinicalTrials.gov | 2 | 2 | 2 | Drugs and targets |
| BEREMAGENE GEPERPAVEC | CHEMBL4594328 | Gene | Phase 1/2 | ClinicalTrials.gov | 1 | 1 | 1 | Drugs and targets |
| EFGARTIGIMOD ALFA | CHEMBL4297551 | Protein | Phase 1/2 | ClinicalTrials.gov | 1 | 1 | 1 | Drugs and targets |
| GENTAMICIN SULFATE | CHEMBL6067484 | Small molecule | Phase 1/2 | ClinicalTrials.gov | 1 | 1 | 1 | Drugs and targets |
| HUMAN IMMUNOGLOBULIN G | CHEMBL1201599 | Phase 1/2 | ClinicalTrials.gov | 1 | 1 | 0 | Drugs and targets | |
| RIGOSERTIB | CHEMBL1241855 | Small molecule | Phase 1/2 | ClinicalTrials.gov | 1 | 1 | 1 | Drugs and targets |
1 to 10 of 16
See all 16 drugsTargets20
The targets ChEMBL's mechanism records give for the disease's drugs, through Open Targets, the most drugs first. A mechanism record says what a drug acts on, not that the target causes the disease.
| Target | Protein | Its drugs that act on it | Mechanisms | Highest stage of those drugs | Gene in Genes | Source |
|---|---|---|---|---|---|---|
| CD52 | CAMPATH-1 antigen | 1 | CAMPATH-1 antigen inhibitor | Early phase 1 | https://conductscience.org/library/genes/1043 | Drugs and targets |
| COL7A1 | Collagen alpha-1(VII) chain | 1 | Collagen alpha-1(VII) chain exogenous gene | Phase 1/2 | https://conductscience.org/library/genes/1294 | Drugs and targets |
| FCGRT | IgG receptor FcRn large subunit p51 | 1 | IgG receptor FcRn large subunit p51 antagonist | Phase 1/2 | https://conductscience.org/library/genes/2217 | Drugs and targets |
| POLA1 | DNA polymerase (alpha/delta/epsilon) | 1 | DNA polymerase (alpha/delta/epsilon) inhibitor | Unknown | https://conductscience.org/library/genes/5422 | Drugs and targets |
| POLA2 | DNA polymerase (alpha/delta/epsilon) | 1 | DNA polymerase (alpha/delta/epsilon) inhibitor | Unknown | https://conductscience.org/library/genes/23649 | Drugs and targets |
| POLD1 | DNA polymerase (alpha/delta/epsilon) | 1 | DNA polymerase (alpha/delta/epsilon) inhibitor | Unknown | https://conductscience.org/library/genes/5424 | Drugs and targets |
| POLD2 | DNA polymerase (alpha/delta/epsilon) | 1 | DNA polymerase (alpha/delta/epsilon) inhibitor | Unknown | https://conductscience.org/library/genes/5425 | Drugs and targets |
| POLD3 | DNA polymerase (alpha/delta/epsilon) | 1 | DNA polymerase (alpha/delta/epsilon) inhibitor | Unknown | https://conductscience.org/library/genes/10714 | Drugs and targets |
| POLD4 | DNA polymerase (alpha/delta/epsilon) | 1 | DNA polymerase (alpha/delta/epsilon) inhibitor | Unknown | https://conductscience.org/library/genes/57804 | Drugs and targets |
| POLE | DNA polymerase (alpha/delta/epsilon) | 1 | DNA polymerase (alpha/delta/epsilon) inhibitor | Unknown | https://conductscience.org/library/genes/5426 | Drugs and targets |
1 to 10 of 20
See all 20 targetsTrials13
Trials an Open Targets clinical report links to the disease, posted results first, then the largest. A trial is shown when the release's checks confirm its link to the disease and Drugs and targets shows its link to one of the disease's drugs. 1 more is not shown, since the checks do not confirm it.
| Trial | Title | Phase | Participants | Results first posted | Conditions | Drugs | Linked by | Source |
|---|---|---|---|---|---|---|---|---|
| NCT03536143 | A Phase I/II Study of KB103, a Topical HSV1-COL7, on DEB Patients | Phase 1/2 | 12 | 2023-01-31 | Dystrophic Epidermolysis Bullosa | BEREMAGENE GEPERPAVEC | Its record names the disease | ClinicalTrials.gov |
| NCT00478244 | Allogeneic Hematopoietic Stem Cell Transplant For Epidermolysis Bullosa | Not applicable | 7 | 2013-02-11 | Epidermolysis Bullosa | BUSULFAN, CYCLOPHOSPHAMIDE, FLUDARABINE PHOSPHATE | Its record names the disease | ClinicalTrials.gov |
| NCT03012191 | Gentamicin for RDEB | Phase 1/2 | 6 | 2019-07-23 | Recessive Dystrophic Epidermolysis Bullosa | GENTAMICIN SULFATE | Its record names the disease | ClinicalTrials.gov |
| NCT04213261 | A Study of FCX-007 for Recessive Dystrophic Epidermolysis Bullosa | Phase 3 | 6 | 2024-04-01 | Recessive Dystrophic Epidermolysis Bullosa | DABOCEMAGENE AUTOFICEL | Its record names the disease | ClinicalTrials.gov |
| NCT02698735 | Gentamicin Therapy for Recessive Dystrophic Epidermolysis Bullosa (RDEB) Nonsense Mutation Patients | Phase 1/2 | 5 | 2019-08-14 | Recessive Dystrophic Epidermolysis Bullosa | GENTAMICIN | Its record names the disease | ClinicalTrials.gov |
| NCT07482787 | Efficacy and Safety Study to Evaluate SD-101 in Epidermolysis Bullosa | Phase 3 | 80 | Epidermolysis Bullosa (EB) | ALLANTOIN, NELITOLIMOD | Its record names the disease | ClinicalTrials.gov | |
| NCT05708677 | A Long-Term Extension Study for Participants Previously Treated With EB-101 for the Treatment of RDEB | 22 | RDEB | PRADEMAGENE ZAMIKERACEL | Its record names the disease | ClinicalTrials.gov | ||
| NCT00014729 | Phase I Study of Isotretinoin in Patients With Recessive Dystrophic Epidermolysis Bullosa | Phase 1 | 20 | Epidermolysis Bullosa | ISOTRETINOIN | Its record names the disease | ClinicalTrials.gov | |
| NCT07011589 | Targeting Collagen VII Antibodies in Bullous Diseases Using Efgartigimod IV (VYVGART) | Phase 1/2 | 18 | Epidermolysis Bullosa (EB), Epidermolysis Bullosa Acquisita, Recessive Dystrophic Epidermolysis Bullosa, Dystrophic Epidermolysis Bullosa | EFGARTIGIMOD ALFA | Its record names the disease | ClinicalTrials.gov | |
| NCT04227106 | Phase 3, Open-label Clinical Trial of EB-101 for the Treatment of Recessive Dystrophic Epidermolysis Bullosa (RDEB) | Phase 3 | 11 | Epidermolysis Bullosa, Recessive Dystrophic Epidermolysis Bullosa | PRADEMAGENE ZAMIKERACEL | Its record names the disease | ClinicalTrials.gov |
1 to 10 of 13
See all 13 trialsComparisons in its trials0
Comparisons Trial comparisons calculated in the trials shown here, most participants first. A comparison in one of these trials does not always compare a treatment for the disease, so read the two groups.
None in this release.
Papers from its trials4
The papers the trials shown here list on ClinicalTrials.gov as their results (RESULT) or as drawn from them (DERIVED), results first, newest first.
Data dates
The date of each source this release read.
Sources 6
- ClinicalTrials.gov's posted results, through CTTI's AACTFreely available. Acknowledgement requested
- ChEMBL, through Open TargetsCC BY-SA 3.0
- ClinicalTrials.govNo license stated
- NLM's MeSHNLM's terms
- Open TargetsCC0 1.0
- PubMedNLM's terms
Each source's terms
- ClinicalTrials.gov's posted results, through CTTI's AACTClinicalTrials.gov data via Aggregate Analysis of ClinicalTrials.gov (AACT), CTTI. CTTI makes its materials freely available and requests acknowledgement. https://aact.ctti-clinicaltrials.org/documentation/299
- ChEMBL, through Open TargetsCC BY-SA 3.0, for the parts from ChEMBL. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
- ClinicalTrials.govnone stated
- NLM's MeSHNLM's
- Open TargetsCC0 1.0. Open Targets asks that users cite its latest paper: Buniello et al. 2025, Open Targets Platform: facilitating therapeutic hypotheses building in drug discovery, Nucleic Acids Research 53(D1):D1467, PMID 39657122. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
- PubMedNLM's terms
ClinicalTrials.gov's data carry an international copyright outside the United States: https://clinicaltrials.gov/about-site/terms-conditions.
For software
Read this disease from software.
The record and each of its lists are JSON, twenty rows a page. No key.
GET https://conductscience.org/api/diseases/v1/MONDO_0009179
GET https://conductscience.org/api/diseases/v1/MONDO_0009179/drugs