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Disease

Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures

Late-stage therapeutic development
24
Clinical trials
1
Associated genes
1
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
  • 6 clinical trials expected to report results, the earliest in Q1 2027.
Upcoming Milestones
Clinical Milestones14View all 14
Results posted 1
Results expected 5
Recently completed 4
Other updates 3
+6 more in the activity timeline below
Activity timeline14

Clinical trials

18 sponsors · 2 new · 5 completed in the last 12 months (net +0)

The current development programme across all trial phases.

Clinical programme
24
All trials
6
Active
18
Late-stage
6
Completed
Late-stage studies

Phase III Trial Of Neoadjuvant Durvalumab (NSC 778709) Plus Chemotherapy Versus Chemotherapy Alone For Adults With MammaPrint High 2 Risk (MP2) Hormone Receptor (HR) Positive / Human Epidermal Growth Factor Receptor (HER2) Negative Stage II-III Breast Cancer

Phase 3 · Recruiting · National Cancer Institute (NCI)

An Open-label, Multicenter Trial to Assess the Safety and Tolerability of Lumateperone in the Treatment of Pediatric Patients With Schizophrenia, Bipolar Disorder or Autism Spectrum Disorder

Phase 3 · Recruiting · Intra-Cellular Therapies, Inc.

CELESTE: Comparative Effectiveness Study of behavioraL and Drug-rElated inSomnia Therapies for pEri- and Post-menopausal People

Phase 4 · Recruiting · Brigham and Women's Hospital

Mechanistic Clinical Trial Evaluating the Role of the Metabotropic Glutamate Receptor Subtype 5 (mGluR5) in the Antidepressant Mechanism of Cognitive Behavioral Therapy for Insomnia (CBT-I)

Phase 4 · Recruiting · Stony Brook University

A Pharmaco-Imaging Trial of Mixed Amphetamine Salts for the Treatment of ADHD in Intellectually-intact Youth With Autism Spectrum Disorder

Phase 4 · Recruiting · Gagan Joshi

Painful Inflammatory Carpometacarpal-1 Osteoarthritis Treated With Intraarticular Steroids, Saline or an Occupational Therapy Intervention: the PICASSO Trial.

Phase 4 · Recruiting · Diakonhjemmet Hospital
Recruiting

Phase III Trial Of Neoadjuvant Durvalumab (NSC 778709) Plus Chemotherapy Versus Chemotherapy Alone For Adults With MammaPrint High 2 Risk (MP2) Hormone Receptor (HR) Positive / Human Epidermal Growth Factor Receptor (HER2) Negative Stage II-III Breast Cancer

Phase 3 · Recruiting · National Cancer Institute (NCI)

An Open-label, Multicenter Trial to Assess the Safety and Tolerability of Lumateperone in the Treatment of Pediatric Patients With Schizophrenia, Bipolar Disorder or Autism Spectrum Disorder

Phase 3 · Recruiting · Intra-Cellular Therapies, Inc.

CELESTE: Comparative Effectiveness Study of behavioraL and Drug-rElated inSomnia Therapies for pEri- and Post-menopausal People

Phase 4 · Recruiting · Brigham and Women's Hospital

Mechanistic Clinical Trial Evaluating the Role of the Metabotropic Glutamate Receptor Subtype 5 (mGluR5) in the Antidepressant Mechanism of Cognitive Behavioral Therapy for Insomnia (CBT-I)

Phase 4 · Recruiting · Stony Brook University

A Pharmaco-Imaging Trial of Mixed Amphetamine Salts for the Treatment of ADHD in Intellectually-intact Youth With Autism Spectrum Disorder

Phase 4 · Recruiting · Gagan Joshi

Painful Inflammatory Carpometacarpal-1 Osteoarthritis Treated With Intraarticular Steroids, Saline or an Occupational Therapy Intervention: the PICASSO Trial.

Phase 4 · Recruiting · Diakonhjemmet Hospital
Recently completed

The Effects of Solriamfetol and CBT-I (Alone and in Combination) on Sleep Continuity, Sleepiness, Fatigue, and Performance in Patients With Insomnia Disorder

Phase 4 · Completed · University of Pennsylvania

Biomarker-Driven Pharmacological Treatment for Autism Spectrum Disorder

Phase 4 · Completed · David Cochran

Pragmatic Trial Comparing Weight Gain in Children With Autism Taking Risperidone Versus Aripiprazole

Phase 4 · Completed · Vanderbilt University Medical Center

CPT-SMART for Treatment of PTSD and Cigarette Smoking

Phase 4 · Completed · VA Office of Research and Development

A 52-Week, Multicenter, Open-Label, Flexible-dose Study to Evaluate the Long-term Safety and Tolerability of Cariprazine in the Treatment of Pediatric Subjects With Schizophrenia, Bipolar I Disorder, or Autism Spectrum Disorder

Phase 3 · Completed · AbbVie

Psychotherapy for Ketamine's Enhanced Durability in Chronic Neuropathic Pain: A Randomized Controlled Pilot Trial

Phase 4 · Completed · Unity Health Toronto

Associated genes

1 match

Genes associated with this disease in the canonical knowledge graph (Open Targets evidence). Number shows the association score.

CACNA1C0.70

Disease biology

1 match

Proteins whose encoding gene is associated with this disease, reached through the canonical gene→disease graph. Number shows the gene's association score.

Voltage-dependent L-type calcium channel subunit alpha-1Cvia CACNA1C0.70
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.