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amelogenesis imperfecta - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

amelogenesis imperfecta

MONDO:0019507

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Overview

Amelogenesis imperfecta (AI) represents a group of developmental conditions affecting the structure and clinical appearance of the enamel of all or nearly all the teeth in a more or less equal manner, and which may be associated with morphologic or biochemical changes elsewhere in the body.

TreatmentsNo approved treatments · 1 in pipeline

Clinical Trials2 registered · 2 recruiting

Diagnosis

Biomarker and diagnostic research for amelogenesis imperfecta has been reported in the published literature.

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for amelogenesis imperfecta. An additional 1 compound holds orphan drug designation.

Orphan Drug Designations

While no drugs are FDA-approved specifically for amelogenesis imperfecta, 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 amelogenesis imperfecta. Orphan designation reflects regulatory interest and does not indicate approval for treatment.

Brand Name	Generic Name	Sponsor

Prognosis

Estimated prevalence: Unknown (Unknown prevalence).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

2 clinical trials registered, 2 recruiting. Interventions under study include other interventions and procedural interventions. Research is primarily sponsored by academic and government institutions.

149 publications have been identified in PubMed for amelogenesis imperfecta. Research spans Case Report / Case Series (28%), Review / Meta-Analysis (24%), and Basic Science / Preclinical (20%).

Research Type	Count	% of Total
Patient case studies	34

Data assembled from 5 of 12 sources · Last updated Sep 17, 2026, 7:19 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:88661

GARD

Genetic and Rare Diseases Info Center

GARD:5791

Questions for Your Care Team

→Are any of the 2 active clinical trials a good fit for my situation?
→What is the current development status of Copine7-derived peptide, and when might it become available?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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Kisho

amelogenesis imperfecta

Overview

Diagnosis

Treatment

Orphan Drug Designations

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Clinical Trials

Recent Publications

Latest News & Developments

Generation and characterization of a murine amelogenesis imperfecta model.

amelogenesis imperfecta

Overview

Diagnosis

Treatment

Orphan Drug Designations

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Clinical Trials

Recent Publications

Latest News & Developments

Generation and characterization of a murine amelogenesis imperfecta model.