Fragile X Syndrome
Recent clinical, regulatory, research and industry developments relating to this disease.
Cage effects on synaptic plasticity and its modulation in a mouse model of fragile X syndrome.
FMRP regulates postnatal neuronal migration via MAP1B.
Spatially coordinated heterochromatinization of long synaptic genes in fragile X syndrome.
FMRP phosphorylation modulates neuronal translation through YTHDF1.
What's happening now
An analyst briefing on current research, clinical, regulatory and industry activity surrounding this disease.
- 4 clinical trials expected to report results, the earliest in Q2 2027.
- Q2 2027Evaluation of the Safety, Tolerability, and Effectiveness of CTH120 in Adult Males With Fragile X Syndrome
- Q3 2027An Open-Label Extension Study of BPN14770 in Subjects With Fragile X Syndrome
- Q3 2027The Psychiatric and Cognitive Phenotypes in Velocardiofacial Syndrome (VCFS), Williams Syndrome (WS)and Fragile X Syndrome Characterization, Treatment and Examining the Connection to Developmental and Molecular Factors
- Q4 2027Randomized, Double-Blind, Placebo-Controlled, Phase 2 Study of MRM-3379 in Male Participants With Fragile X Syndrome
Clinical MilestonesViewHide
- 2026-06-17Evaluation of the Safety, Tolerability, and Effectiveness of CTH120 in Adult Males With Fragile X SyndromeResults expected Q2 2027
- 2026-06-15Randomized, Double-Blind, Placebo-Controlled, Phase 2 Study of MRM-3379 in Male Participants With Fragile X SyndromeResults expected Q4 2027
- 2026-03-18The Psychiatric and Cognitive Phenotypes in Velocardiofacial Syndrome (VCFS), Williams Syndrome (WS)and Fragile X Syndrome Characterization, Treatment and Examining the Connection to Developmental and Molecular FactorsResults expected Q3 2027
- 2025-10-03An Open-Label Extension Study of BPN14770 in Subjects With Fragile X SyndromeResults expected Q3 2027
- 2026-06-30An Open-Label Extension Study to Assess the Long-Term Safety and Tolerability of ZYN002 Administered as a Transdermal Gel to Children, Adolescents, and Young Adults With Fragile X SyndromePrimary completion
- 2025-12-30Efficacy and Safety of Metformin in the Treatment of Fragile X SyndromePrimary completion
- 2025-09-02A Randomized, Double-blind, Placebo-controlled, Two-Part Study of BPN14770 in Male Adolescents (Aged 9 to < 18 Years) With Fragile X SyndromeCompleted
- 2025-08-29A Randomized, Double-Blind, Placebo-Controlled, Multiple-Center, Efficacy and Safety Study of ZYN002 Administered as a Transdermal Gel to Children, Adolescents and Young Adults With Fragile X Syndrome - RECONNECTCompleted
- 2026-06-30ClinicalAn Open-Label Extension Study to Assess the Long-Term Safety and Tolerability of ZYN002 Administered as a Transdermal Gel to Children, Adolescents, and Young Adults With Fragile X SyndromePrimary completion
- 2026-06-17ClinicalEvaluation of the Safety, Tolerability, and Effectiveness of CTH120 in Adult Males With Fragile X SyndromeResults expected Q2 2027
- 2026-06-15ClinicalRandomized, Double-Blind, Placebo-Controlled, Phase 2 Study of MRM-3379 in Male Participants With Fragile X SyndromeResults expected Q4 2027
- 2026-03-18ClinicalThe Psychiatric and Cognitive Phenotypes in Velocardiofacial Syndrome (VCFS), Williams Syndrome (WS)and Fragile X Syndrome Characterization, Treatment and Examining the Connection to Developmental and Molecular FactorsResults expected Q3 2027
- 2025-12-30ClinicalEfficacy and Safety of Metformin in the Treatment of Fragile X SyndromePrimary completion
- 2025-10-03ClinicalAn Open-Label Extension Study of BPN14770 in Subjects With Fragile X SyndromeResults expected Q3 2027
- 2025-09-02ClinicalA Randomized, Double-blind, Placebo-controlled, Two-Part Study of BPN14770 in Male Adolescents (Aged 9 to < 18 Years) With Fragile X SyndromeCompleted
- 2025-08-29ClinicalA Randomized, Double-Blind, Placebo-Controlled, Multiple-Center, Efficacy and Safety Study of ZYN002 Administered as a Transdermal Gel to Children, Adolescents and Young Adults With Fragile X Syndrome - RECONNECTCompleted
Clinical trials
The current development programme across all trial phases.
Research activity
Key research shaping understanding of this disease, combining the latest publications with the most influential evidence.
Major themes8
- Fragile X Messenger Ribonucleoprotein 14
- Fragile X Syndrome4
- Neurons2
- Astrocytes1
- Cell Movement1
- Mice, Knockout1
- Microtubule-Associated Proteins1
- Neuronal Plasticity1
Leading journals5
- Cell1
- eLife1
- Molecular cell1
- Nature communications1
- Philosophical transactions of the Royal Society of London. Series B, Biological sciences1
Leading researchers8
- Allam A1
- Bataveljic D1
- Bemelmans AP1
- Boya R1
- Briault S1
- Caille I1
- Chandradoss KR1
- Chen S1
Affiliations (unnormalised)6
- Center for Interdisciplinary Research in Biology1
- Charles University1
- CNRS UMR7355 and Orléans University1
- Emory University School of Medicine1
- Epigenetics Institute1
- Howard Hughes Medical Institute1
Related conditions
Diseases frequently studied alongside this one. Number shows shared papers.
Disease profile
A grounded synthesis of the condition — overview, causes, mechanism, risk factors and current standard of care.
Fragile X syndrome is a genetic condition caused by mutation at the distal long arm of the X chromosome, at the FRAXA or FRAXE loci. It is characterized by cognitive impairment and a pattern of neurodevelopmental features including hyperactivity, seizures, language delay, and enlargement of the ears, head, and testes. Intellectual disability occurs in nearly all males and in about half of females with the full FRAXA mutation.
The condition is caused by mutation at the distal end of the long arm of the X chromosome, specifically at the FRAXA or FRAXE gene loci. The supplied grounding does not support additional causal factors beyond this genetic abnormality.
The literature grounding indicates that the disease is studied in terms of genetics, metabolism, and physiopathology, but it does not provide a detailed mechanism. The only supported biological basis is disruption associated with mutation at FRAXA or FRAXE, with downstream neurodevelopmental and cognitive effects. No further mechanistic detail is supported by the supplied material.
The main supported risk factor is carrying the relevant X-chromosome mutation at FRAXA or FRAXE. The grounding also indicates that full FRAXA mutation is associated with intellectual disability in nearly all males and about 50% of females, but it does not support additional risk factors.
The supplied grounding does not include treatment or management guidance. No standard-of-care modality or drug class can be stated from the provided material.
AI-generated summary grounded in MeSH. Informational only — not medical advice. Generated 2026-07-07.
Reference
Authoritative identity, definition & identifiers.
A condition characterized genotypically by mutation of the distal end of the long arm of the X chromosome (at gene loci FRAXA or FRAXE) and phenotypically by cognitive impairment, hyperactivity, SEIZURES, language delay, and enlargement of the ears, head, and testes. INTELLECTUAL DISABILITY occurs in nearly all males and roughly 50% of females with the full mutation of FRAXA. (From Menkes, Textbook of Child Neurology, 5th ed, p226)
- 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.