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Mendelian disorders of cornification affecting all or most of integument characterized by hyperkeratosis and/or scaling, caused by an inherited modification of the individual's genome.
Biomarker and diagnostic research for inherited ichthyosis has been reported in the published literature.
No approved treatments are currently available for inherited ichthyosis. An additional 6 compounds hold orphan drug designation.
While no drugs are FDA-approved specifically for inherited ichthyosis, some of the following designated compounds may be used off-label in clinical practice. Treatment decisions should be made in consultation with a specialist familiar with this condition.
The following drugs have received orphan drug designation from the FDA for inherited ichthyosis. Orphan designation reflects regulatory interest and does not indicate approval for treatment.
Brand Name | Generic Name | Sponsor |
|---|
7 clinical trials registered, 3 recruiting. Interventions under study include other interventions, drug therapy, and medical devices. Pipeline includes 2 PHASE2, 1 EARLY_PHASE1. Research is primarily sponsored by academic and government institutions.
NCT ID | Title | Phase | Sponsor | Status |
|---|---|---|---|---|
[NCT03417856](https://clinicaltrials.gov/study/NCT03417856) |
Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 6:39 PM UTC
European rare disease database
Genetic and Rare Diseases Info Center
Designated
Exclusivity End |
|---|
Designation Status |
|---|
mRNA encoding Cas9-deaminase and single guide RNA against TGM1 | mRNA encoding Cas9-deaminase and single guide RNA against TGM1 | Charité Universitaetsmedizin Berlin KöR | 2025 | — | Designated |
2-(3-amino-6-chloroquinolin-2-yl)-propan-2-ol | 2-(3-amino-6-chloroquinolin-2-yl)-propan-2-ol | Aldeyra Therapeutics | 2017 | — | Designated |
trifarotene | trifarotene | Mayne Pharma LLC. | 2014 | — | Designated |
isotretinoin | isotretinoin | Timber Pharmaceuticals | 2014 | — | Designated |
talarazole | talarazole | Stiefel Laboratories, Inc. | 2012 | — | Withdrawn |
liarozole | liarozole | Stiefel Laboratories, Inc. | 2004 | — | Withdrawn |
Gene therapy approaches for inherited ichthyosis have been reported in the published literature.
7 trials found
Defining the Skin and Blood Biomarkers of Ichthyosis |
— |
Northwestern University |
ENROLLING_BY_INVITATION |
[NCT07050810](https://clinicaltrials.gov/study/NCT07050810) | Thera-Clean® Microbubbles System in Patients With Skin Diseases | EARLY_PHASE1 | Northwestern University | ENROLLING_BY_INVITATION |
[NCT06362447](https://clinicaltrials.gov/study/NCT06362447) | Efficacy of Injectable Gentamicin in Hereditary Ichthyosis | PHASE2 | University Hospital, Toulouse | NOT_YET_RECRUITING |
[NCT06330324](https://clinicaltrials.gov/study/NCT06330324) | Reproductive Options in Inherited Skin Diseases | — | Maastricht University Medical Center | ENROLLING_BY_INVITATION |
[NCT06330350](https://clinicaltrials.gov/study/NCT06330350) | Qualitative Study in Patients With Genodermatoses and Healthcare Professionals on Reproductive Counselling | — | Maastricht University Medical Center | RECRUITING |
210 publications have been identified in PubMed for inherited ichthyosis. Research spans Case Report / Case Series (38%), Review / Meta-Analysis (20%), and Basic Science / Preclinical (18%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 80 | 38% |
Research summaries | 41 | 20% |
Laboratory research | 37 | 18% |
Disease patterns and progression | 18 | 9% |
New treatment approaches | 15 | 7% |
Other research | 8 | 4% |
Testing and diagnosis research | 8 | 4% |
Clinical study results | 3 | 1% |
Pell N (2026). [PMID: 41624255](https://pubmed.ncbi.nlm.nih.gov/41624255/). *JID Innov*. [Basic Science / Preclinical]
Sattar MA (2026). [PMID: 42196615](https://pubmed.ncbi.nlm.nih.gov/42196615/). *Int J Mol Sci*. [Case Report / Case Series]
Elendu C (2026). [PMID: 42052316](https://pubmed.ncbi.nlm.nih.gov/42052316/). *Clin Case Rep*. [Case Report / Case Series]
Li S (2026). [PMID: 41907231](https://pubmed.ncbi.nlm.nih.gov/41907231/). *Front Med (Lausanne)*. [Case Report / Case Series]
Rice AS (2026). [PMID: 31335043](https://pubmed.ncbi.nlm.nih.gov/31335043/). *Unknown Journal*. [Other]
Elgie T (2026). [PMID: 42001132](https://pubmed.ncbi.nlm.nih.gov/42001132/). *Orphanet J Rare Dis*. [Epidemiology / Natural History]
Mayer de Lima LB (2026). [PMID: 40763936](https://pubmed.ncbi.nlm.nih.gov/40763936/). *Clin Genet*. [Epidemiology / Natural History]
Tajiri M (2026). [PMID: 41220238](https://pubmed.ncbi.nlm.nih.gov/41220238/). *J Dermatol*. [Case Report / Case Series]
Du J (2026). [PMID: 41677380](https://pubmed.ncbi.nlm.nih.gov/41677380/). *Paediatric anaesthesia*. [Basic Science / Preclinical]
Paller AS (2026). [PMID: 40907761](https://pubmed.ncbi.nlm.nih.gov/40907761/). *J Am Acad Dermatol*. [Other]