Disease

Microcephaly

Active therapeutic pipelineEmerging research

MeSHMicrocephaly

Publications

Clinical trials

2025

Latest publication

Latest activity

beta

Recent clinical, regulatory, research and industry developments relating to this disease.

Lithium normalizes ASD-related neuronal, synaptic, and behavioral phenotypes in DYRK1A-knockin mice.

Research2024-12-05Molecular psychiatry

Mutations in the U4 snRNA gene RNU4-2 cause one of the most prevalent monogenic neurodevelopmental disorders.

Research2024-05-31Nature medicine

What's happening now

An analyst briefing on current research, clinical, regulatory and industry activity surrounding this disease.

Executive briefingUpdating summary…Momentum: Low

Key developments

1 clinical trial expected to report results, the earliest in Q4 2028.

Upcoming Milestones

Q4 2028A Phase 1/2 Open-label Intrathecal Administration of MELPIDA to Determine Its Safety and Efficacy for Patients With Spastic Paraplegia Type 50 (SPG50) Caused by Mutation in the AP4M1 Gene.

Major developments

Upcoming trial readoutHigh impact

A Phase 1/2 Open-label Intrathecal Administration of MELPIDA to Determine Its Safety and Efficacy for Patients With Spastic Paraplegia Type 50 (SPG50) Caused by Mutation in the AP4M1 Gene.

Results expected Q4 20282026-07-08

Clinical Milestones1View

Results expected 1

2026-07-08A Phase 1/2 Open-label Intrathecal Administration of MELPIDA to Determine Its Safety and Efficacy for Patients With Spastic Paraplegia Type 50 (SPG50) Caused by Mutation in the AP4M1 Gene.Results expected Q4 2028

Activity timeline1

2026-07-08ClinicalA Phase 1/2 Open-label Intrathecal Administration of MELPIDA to Determine Its Safety and Efficacy for Patients With Spastic Paraplegia Type 50 (SPG50) Caused by Mutation in the AP4M1 Gene.Results expected Q4 2028

Clinical trials

1 sponsors · 0 new · 0 completed in the last 12 months (net +0)

The current development programme across all trial phases.

Clinical programme

All trials

Active

Late-stage

Completed

Recruiting

A Phase 1/2 Open-label Intrathecal Administration of MELPIDA to Determine Its Safety and Efficacy for Patients With Spastic Paraplegia Type 50 (SPG50) Caused by Mutation in the AP4M1 Gene.

Phase 1/2 · Recruiting · Elpida Therapeutics SPC

Research activity

2 papers

Key research shaping understanding of this disease, combining the latest publications with the most influential evidence.

Publications over time

20242025

Most influential

Mutations in the U4 snRNA gene RNU4-2 cause one of the most prevalent monogenic neurodevelopmental disorders.

Nature medicine · 2024 · 80 cites

Lithium normalizes ASD-related neuronal, synaptic, and behavioral phenotypes in DYRK1A-knockin mice.

Molecular psychiatry · 2025 · 2 cites

Recent publications

Lithium normalizes ASD-related neuronal, synaptic, and behavioral phenotypes in DYRK1A-knockin mice.

Molecular psychiatry · 2025 · 2 cites

Mutations in the U4 snRNA gene RNU4-2 cause one of the most prevalent monogenic neurodevelopmental disorders.

Nature medicine · 2024 · 80 cites

Major themes8

Autism Spectrum Disorder1
Intellectual Disability1
Lithium1
Mutation1
Neurodevelopmental Disorders1
Protein Serine-Threonine Kinases1
Protein-Tyrosine Kinases1
RNA, Small Nuclear1

Leading journals2

Molecular psychiatry1
Nature medicine1

Leading researchers8

Bae M1
Bae YC1
Berry IR1
Cho Y1
Ellegood J1
Freson K1
Greene D1
Jang H1

Affiliations (unnormalised)6

Bloorview Research Institute1
Bristol Medical School1
Center for Molecular and Vascular Biology1
Center for Synaptic Brain Dysfunctions1
Charles Bronfman Institute for Personalized Medicine1
Clinical Genetics Unit1

Reference

Authoritative identity, definition & identifiers.

Defined in MeSH

A congenital abnormality in which the CEREBRUM is underdeveloped, the fontanels close prematurely, and, as a result, the head is small. (Desk Reference for Neuroscience, 2nd ed.)

Identifiers

MeSHMicrocephaly

References & data sources

Disease identity & definition — NLM Medical Subject Headings (MeSH), public domain
Clinical trials — ClinicalTrials.gov (U.S. National Library of Medicine)
Research activity — Europe PMC (EMBL-EBI) + OpenAlex-derived paper links
Related entities are derived from literature co-mention (studied together) — associative, not causal.