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Disease
overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes
Late-stage therapeutic development
24
Clinical trials
3
Associated genes
2
Related proteins
What's happening now
An analyst briefing on current research, clinical, regulatory and industry activity surrounding this disease.
Executive briefingUpdating summary…Momentum: Moderate
Key developments
- 5 clinical trials expected to report results, the earliest in Q1 2027.
Upcoming Milestones
- Q1 2027Ischemic and Bleeding Outcomes After Angiolite Stent Implantation and an Abbreviated Dual Antiplatelet Therapy. A 2x2 Factorial, All-comer, Multicenter, Randomized Controlled Trial: ANGIODAPT
- Q2 2027A Prospective, Randomised, Controlled, Open-label, Multicentre Study to Evaluate Efficacy, Safety and Patient-Reported Outcomes of Peptide Receptor Radionuclide Therapy (PRRT) With 177Lu-Edotreotide Compared to Best Standard of Care in Patients With Well-differentiated Aggressive Grade 2 and Grade 3, Somatostatin Receptor-Positive (SSTR+), Neuroendocrine Tumours of GastroEnteric or Pancreatic Origin
- Q3 2027A Randomised Double-blind Placebo-controlled Trial of Topical Sirolimus in Chemoprevention of Facial Squamous Cell Carcinomas in Solid Organ Transplant Recipients
- Q4 2027A Double-Blind Randomised Controlled Trial (dbRCT) Phase III Trial Investigating the Effect of Sirolimus on Disease Progression in Patients With Inclusion Body Myositis (IBM) as Measured by the IBM Functional Rating Scale (IBM-FRS)
- Q4 2029A MULTICENTER, OPEN-LABEL, SINGLE-ARM STUDY TO EVALUATE LONG-TERM SAFETY AND TOLERABILITY OF BRIVARACETAM IN STUDY PARTICIPANTS WITH CHILDHOOD ABSENCE EPILEPSY OR JUVENILE ABSENCE EPILEPSY
Major developments
Major trial resultsHigh impact
Results posted2026-06-30
Upcoming trial readoutHigh impact
Results expected Q4 20292026-07-09
Clinical MilestonesView all 15Hide
Results posted
Results expected
- 2026-07-09A MULTICENTER, OPEN-LABEL, SINGLE-ARM STUDY TO EVALUATE LONG-TERM SAFETY AND TOLERABILITY OF BRIVARACETAM IN STUDY PARTICIPANTS WITH CHILDHOOD ABSENCE EPILEPSY OR JUVENILE ABSENCE EPILEPSYResults expected Q4 2029
- 2026-05-15Ischemic and Bleeding Outcomes After Angiolite Stent Implantation and an Abbreviated Dual Antiplatelet Therapy. A 2x2 Factorial, All-comer, Multicenter, Randomized Controlled Trial: ANGIODAPTResults expected Q1 2027
- 2026-01-14A Double-Blind Randomised Controlled Trial (dbRCT) Phase III Trial Investigating the Effect of Sirolimus on Disease Progression in Patients With Inclusion Body Myositis (IBM) as Measured by the IBM Functional Rating Scale (IBM-FRS)Results expected Q4 2027
- 2025-09-10A Prospective, Randomised, Controlled, Open-label, Multicentre Study to Evaluate Efficacy, Safety and Patient-Reported Outcomes of Peptide Receptor Radionuclide Therapy (PRRT) With 177Lu-Edotreotide Compared to Best Standard of Care in Patients With Well-differentiated Aggressive Grade 2 and Grade 3, Somatostatin Receptor-Positive (SSTR+), Neuroendocrine Tumours of GastroEnteric or Pancreatic OriginResults expected Q2 2027
- 2025-09-09A Randomised Double-blind Placebo-controlled Trial of Topical Sirolimus in Chemoprevention of Facial Squamous Cell Carcinomas in Solid Organ Transplant RecipientsResults expected Q3 2027
Recently completed
- 2026-06-10A Multicenter Open-Label Extension Study to Evaluate the Long-Term Safety of Cenobamate Adjunctive Therapy in Subjects With Primary Generalized Tonic-Clonic SeizuresCompleted
- 2026-04-23Metformin in Alzheimer's Dementia PreventionPrimary completion
- 2026-04-06A Phase 4, Interventional, Multicenter, Open-Label, Single-Arm Study to Assess Behavioral and Other Co-occurring Outcomes Following Treatment With EPID(I/Y)OLEX as Add-on Therapy in Participants (Aged 1 to 65 Years Old) With Seizures Associated With Tuberous Sclerosis ComplexCompleted
- 2026-03-02A Proof-of-concept Clinical Study to Evaluate the Impact of a Combination Nutraceutical Kit on Muscle Function, Cognitive Performance, and Immune Resilience in Older Adults.Completed
- 2026-01-20Investigation of Efficacy and Tolerability of Levetiracetam for Epilepsy in ElderlyCompleted
Other updates
- 2027-12-01Guard3: An Open-label, Parallel-arm, Randomized, Controlled, Phase 2/Phase 3 Study Evaluating the Efficacy and Safety of Autologous HSC Gene Therapy, AVR-RD-02, Compared to ERT for Gaucher Disease Type 3 in Participants Aged 2 to 25Withdrawn
- 2026-03-12A Phase 2/3 Multicenter, Randomized, Double-blind, Placebo-controlled Study to Evaluate the Efficacy, Safety, and Tolerability of BHV-7000 as Adjunctive Therapy in Subjects With Idiopathic Generalized Epilepsy With Generalized Tonic-clonic Seizures, With Open-label ExtensionTerminated
- 2025-11-25Memantine for the Treatment of Social Deficits in Youth With Disorders of Impaired Social Interactions: A Randomized-controlled TrialTerminated
+7 more in the activity timeline below
Activity timeline15
- 2027-12-01ClinicalGuard3: An Open-label, Parallel-arm, Randomized, Controlled, Phase 2/Phase 3 Study Evaluating the Efficacy and Safety of Autologous HSC Gene Therapy, AVR-RD-02, Compared to ERT for Gaucher Disease Type 3 in Participants Aged 2 to 25Withdrawn
- 2026-07-09ClinicalA MULTICENTER, OPEN-LABEL, SINGLE-ARM STUDY TO EVALUATE LONG-TERM SAFETY AND TOLERABILITY OF BRIVARACETAM IN STUDY PARTICIPANTS WITH CHILDHOOD ABSENCE EPILEPSY OR JUVENILE ABSENCE EPILEPSYResults expected Q4 2029
- 2026-06-30ClinicalTreatment of Children With All Stages of Hepatoblastoma With Temsirolimus (NSC#683864) Added to High Risk Stratum TreatmentResults posted
- 2026-06-10ClinicalA Multicenter Open-Label Extension Study to Evaluate the Long-Term Safety of Cenobamate Adjunctive Therapy in Subjects With Primary Generalized Tonic-Clonic SeizuresCompleted
- 2026-05-15ClinicalIschemic and Bleeding Outcomes After Angiolite Stent Implantation and an Abbreviated Dual Antiplatelet Therapy. A 2x2 Factorial, All-comer, Multicenter, Randomized Controlled Trial: ANGIODAPTResults expected Q1 2027
- 2026-04-23ClinicalMetformin in Alzheimer's Dementia PreventionPrimary completion
- 2026-04-06ClinicalA Phase 4, Interventional, Multicenter, Open-Label, Single-Arm Study to Assess Behavioral and Other Co-occurring Outcomes Following Treatment With EPID(I/Y)OLEX as Add-on Therapy in Participants (Aged 1 to 65 Years Old) With Seizures Associated With Tuberous Sclerosis ComplexCompleted
- 2026-03-12ClinicalA Phase 2/3 Multicenter, Randomized, Double-blind, Placebo-controlled Study to Evaluate the Efficacy, Safety, and Tolerability of BHV-7000 as Adjunctive Therapy in Subjects With Idiopathic Generalized Epilepsy With Generalized Tonic-clonic Seizures, With Open-label ExtensionTerminated
- 2026-03-02ClinicalA Proof-of-concept Clinical Study to Evaluate the Impact of a Combination Nutraceutical Kit on Muscle Function, Cognitive Performance, and Immune Resilience in Older Adults.Completed
- 2026-01-20ClinicalInvestigation of Efficacy and Tolerability of Levetiracetam for Epilepsy in ElderlyCompleted
Clinical trials
The current development programme across all trial phases.
Clinical programme
24
6
18
6
Late-stage studies
Recently completed
Associated genes
Genes associated with this disease in the canonical knowledge graph (Open Targets evidence). Number shows the association score.
Disease biology
Proteins whose encoding gene is associated with this disease, reached through the canonical gene→disease graph. Number shows the gene's association score.
References & data sources
- Disease identity & definition — NLM Medical Subject Headings (MeSH), public domain
- Clinical trials — ClinicalTrials.gov (U.S. National Library of Medicine)
- Related entities are derived from literature co-mention (studied together) — associative, not causal.