Disease

Chromosome Disorders

Late-stage therapeutic developmentEmerging research

MeSHChromosome Disorders

Publications

Clinical trials

2023

Latest publication

Latest activity

beta

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

Shank3 deletion in PV neurons is associated with abnormal behaviors and neuronal functions that are rescued by increasing GABAergic signaling.

Research2023-08-01Molecular autism

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 with recent milestones (1 completed or reporting results).

Clinical Milestones1View

Recently completed 1

2025-12-16A Double-Blind, Placebo-Controlled Trial of Metformin in Individuals With Fragile X Syndrome (FXS)Completed

Activity timeline1

2025-12-16ClinicalA Double-Blind, Placebo-Controlled Trial of Metformin in Individuals With Fragile X Syndrome (FXS)Completed

Clinical trials

3 sponsors · 0 new · 1 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 Double-Blind, Placebo-Controlled Trial of Metformin in Individuals With Fragile X Syndrome

Phase 2/3 · Completed · University of California, Davis

A Double Blind, Placebo Controlled, Fixed-Flexible Dose Clinical Trial of Guanfacine Extended Release for the Reduction of Aggression and Self-injurious Behavior Associated With Prader-Willi Syndrome

Phase 4 · Completed · Maimonides Medical Center

Recently completed

A Double-Blind, Placebo-Controlled Trial of Metformin in Individuals With Fragile X Syndrome (FXS)

Phase 2 · Completed · University of Alberta

A Double-Blind, Placebo-Controlled Trial of Metformin in Individuals With Fragile X Syndrome

Phase 2/3 · Completed · University of California, Davis

A Double Blind, Placebo Controlled, Fixed-Flexible Dose Clinical Trial of Guanfacine Extended Release for the Reduction of Aggression and Self-injurious Behavior Associated With Prader-Willi Syndrome

Phase 4 · Completed · Maimonides Medical Center

Research activity

1 papers

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

Most influential

Shank3 deletion in PV neurons is associated with abnormal behaviors and neuronal functions that are rescued by increasing GABAergic signaling.

Molecular autism · 2023 · 26 cites

Recent publications

Shank3 deletion in PV neurons is associated with abnormal behaviors and neuronal functions that are rescued by increasing GABAergic signaling.

Molecular autism · 2023 · 26 cites

Major themes2

Autism Spectrum Disorder1
Problem Behavior1

Leading journals1

Molecular autism1

Leading researchers8

Albanesi M1
Bauer HF1
Boeckers TM1
Landi S1
Nardi G1
Pagano J1
Pracucci E1
Ratto GM1

Affiliations (unnormalised)3

Institute for Anatomy and Cell Biology1
Neuroscience Institute1
Padova Neuroscience Center1

Reference

Authoritative identity, definition & identifiers.

Defined in MeSH

Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome or a chromosome segment). (from Thompson et al., Genetics in Medicine, 5th ed, p429)

Identifiers

MeSHChromosome Disorders

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.