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developmental and epileptic encephalopathy (DEE) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

developmental and epileptic encephalopathy

MONDO:0100620

Also known as:DEEinfantile spasm

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Overview

An epilepsy associated with developmental impairment that may be due to either the underlying etiology or the superimposed epileptic activity, or both.

TreatmentsNo approved treatments · 5 in pipeline

Clinical Trials11 registered · 3 recruiting

Diagnosis

Biomarker and diagnostic research for developmental and epileptic encephalopathy 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 developmental and epileptic encephalopathy. An additional 5 compounds hold orphan drug designation.

Orphan Drug Designations

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

Brand Name	Generic Name	Sponsor

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.

11 clinical trials registered, 3 recruiting. Interventions under study include drug therapy and other interventions. Pipeline includes 4 PHASE3, 1 PHASE2, 1 PHASE1. Research is sponsored by a mix of industry and academic institutions.

NCT ID	Title	Phase	Sponsor	Status
[NCT06380192](https://clinicaltrials.gov/study/NCT06380192)

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 1:30 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

Questions for Your Care Team

→Are any of the 11 active clinical trials a good fit for my situation?
→With 5 compounds in the orphan drug pipeline, which are furthest along in development and which clinical trials should I be aware of?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

Research Type	Count	% of Total
Research summaries	26	28%
Laboratory research	16	17%
Patient case studies	14	15%
New treatment approaches	14	15%
Disease patterns and progression	11	12%
Clinical study results	6	7%
Testing and diagnosis research	4	4%
Other research	1	1%

Kisho

developmental and epileptic encephalopathy

Overview

Diagnosis

Treatment

Orphan Drug Designations

Research Landscape

Medical References

Questions for Your Care Team

Questions for Your Care Team

Clinical Trials

Recent Publications

Latest News & Developments

Phenotypic and transcriptomic characterization of biallelic RNU2-2 developmental and epileptic encephalopathy.

A de novo NR2F1 c.330 C > A variant in Bosch-Boonstra-Schaaf optic atrophy syndrome presenting with early-onset developmental and epileptic encephalopathy.

developmental and epileptic encephalopathy

Overview

Diagnosis

Treatment

Orphan Drug Designations

Research Landscape

Medical References

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Clinical Trials

Recent Publications

Latest News & Developments

Phenotypic and transcriptomic characterization of biallelic RNU2-2 developmental and epileptic encephalopathy.

A de novo NR2F1 c.330 C > A variant in Bosch-Boonstra-Schaaf optic atrophy syndrome presenting with early-onset developmental and epileptic encephalopathy.