Disease

Nervous System Malformations

Late-stage therapeutic developmentEmerging research

MeSHNervous System Malformations

Publications

Clinical trials

2023

Latest publication

Latest activity

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

Brain abnormalities, neurodegeneration, and dysosteosclerosis (BANDDOS): new cases, systematic literature review, and associations with CSF1R-ALSP.

Research2023-06-22Orphanet journal of rare diseases

What's happening now

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

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Clinical trials

2 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

Late-stage studies

A Randomized, Double-Blind, Two-Part, Parallel-Group, Comparative Study to Evaluate Blood Folate Levels in Women Taking an Oral Contraceptive With and Without Folic Acid

Phase 3 · Withdrawn · Johnson & Johnson Pharmaceutical Research & Development, L.L.C.

Research activity

1 papers

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

Most influential

Brain abnormalities, neurodegeneration, and dysosteosclerosis (BANDDOS): new cases, systematic literature review, and associations with CSF1R-ALSP.

Orphanet journal of rare diseases · 2023 · 12 cites

Recent publications

Brain abnormalities, neurodegeneration, and dysosteosclerosis (BANDDOS): new cases, systematic literature review, and associations with CSF1R-ALSP.

Orphanet journal of rare diseases · 2023 · 12 cites

Major themes2

Leukoencephalopathies1
Nervous System Malformations1

Leading journals1

Orphanet journal of rare diseases1

Leading researchers4

Dulski J1
Santos ML1
Souza J1
Wszolek ZK1

Affiliations (unnormalised)5

Hospital Infantil Pequeno Príncipe1
Mayo Clinic1
Medical University of Gdansk1
School of Medicine1
St Adalbert Hospital1

Reference

Authoritative identity, definition & identifiers.

Defined in MeSH

Structural abnormalities of the central or peripheral nervous system resulting primarily from defects of embryogenesis.

Identifiers

MeSHNervous System Malformations

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.