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megalencephaly - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

megalencephaly

MONDO:0016608

Also known as:macroencephalymegalencephaly (disease)

Find Clinical TrialsTrials

Overview

A congenital abnormality in which the occipitofrontal circumference is greater than two standard deviations above the mean for a given age. It is associated with hydrocephalus; subdural effusion; arachnoid cysts; or is part of a genetic condition (e.g., alexander disease; sotos syndrome).

Clinical Trials4 registered · 4 recruiting

Diagnosis

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

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.

4 clinical trials registered, 4 recruiting. Interventions under study include drug therapy and procedural interventions. Pipeline includes 2 PHASE2, 1 PHASE1. Research is sponsored by a mix of industry and academic institutions.

102 publications have been identified in PubMed for megalencephaly. Research spans Case Report / Case Series (39%), Basic Science / Preclinical (19%), and Epidemiology / Natural History (15%).

Research Type	Count	% of Total
Patient case studies	40

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 1:11 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:2477

GARD

Genetic and Rare Diseases Info Center

GARD:16601

Questions for Your Care Team

→Are any of the 4 active clinical trials a good fit for my situation?
→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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megalencephaly

Overview

Diagnosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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