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Disease

Rett Syndrome

Late-stage therapeutic developmentEmerging research
4
Publications
16
Clinical trials
1
Related conditions
1
Related proteins
2025
Latest publication
Latest activity
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Recent clinical, regulatory, research and industry developments relating to this disease.

What's happening now

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

Clinical trials

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

The current development programme across all trial phases.

Clinical programme
16
All trials
4
Active
8
Late-stage
6
Completed
Late-stage studies
Recently completed

Research activity

4 papers

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

Publications over time
20242025
Major themes6
  • Rett Syndrome3
  • CRISPR-Cas Systems1
  • Gene Editing1
  • Movement Disorders1
  • Neuronal Plasticity1
  • Synapses1
Leading journals4
  • Advanced science (Weinheim, Baden-Wurttemberg, Germany)1
  • Biomolecules1
  • Brain : a journal of neurology1
  • Current opinion in pediatrics1
Leading researchers8
  • Borgonovo G1
  • Buvinic S1
  • Calvello M1
  • Capsoni S1
  • Cattaneo A1
  • Cho HY1
  • Choi JW1
  • Di Caprio M1
Affiliations (unnormalised)6
  • Bio@SNS Laboratory of Biology1
  • F.M. Kirby Neurobiology Center1
  • Institute of Neuroscience1
  • Kookmin University1
  • Neuromuscular Studies Laboratory (NeSt Lab)1
  • Rita Levi-Montalcini European Brain Research Institute (EBRI)1

Disease biology

1 match

Key proteins & gene products studied in this disease. Number shows shared papers.

Related conditions

1 match

Diseases frequently studied alongside this one. Number shows shared papers.

Reference

Authoritative identity, definition & identifiers.

Defined in MeSH

An inherited neurological developmental disorder that is associated with X-LINKED INHERITANCE and may be lethal in utero to hemizygous males. The affected female is normal until the age of 6-25 months when progressive loss of voluntary control of hand movements and communication skills; ATAXIA; SEIZURES; autistic behavior; intermittent HYPERVENTILATION; and HYPERAMMONEMIA appear. (From Menkes, Textbook of Child Neurology, 5th ed, p199)

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.