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Disease

Congenital heart defects and skeletal malformations syndrome

Late-stage therapeutic development

Also known as marfanoid habitus-facial dysmorphism-skeletal abnormality-heart defect syndrome, CHDSKM.

23
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
  • 4 clinical trials expected to report results, the earliest in Q4 2027.
Upcoming Milestones
Clinical Milestones9View all 9
Results posted 3
Results expected 4
Other updates 2
+1 more in the activity timeline below
Activity timeline9

Clinical trials

8 sponsors · 0 new · 1 completed in the last 12 months (net -1)

The current development programme across all trial phases.

Clinical programme
23
All trials
6
Active
14
Late-stage
6
Completed
Late-stage studies

Randomized Phase II/III Study of Nivolumab Plus Ipilimumab Plus Sargramostim Versus Nivolumab Plus Ipilimumab in Patients With Unresectable Stage III or Stage IV Melanoma

Phase 2/3 · Active, not recruiting · National Cancer Institute (NCI)

A Phase III Randomized Trial of Steroids + Tyrosine Kinase Inhibitor (TKI) Induction With Chemotherapy or Blinatumomab for Newly Diagnosed BCR-ABL-Positive Acute Lymphoblastic Leukemia (ALL) in Adults

Phase 3 · Active, not recruiting · National Cancer Institute (NCI)

A Randomized Phase III Trial of Checkpoint Blockade in Lung Cancer Patients in the Adjuvant Setting Based on Pathologic Response Following Neoadjuvant Therapy (CLEAR)

Phase 3 · Active, not recruiting · National Cancer Institute (NCI)

A Phase II/III Trial of Chemotherapy + Cetuximab vs Chemotherapy + Bevacizumab vs Atezolizumab + Bevacizumab Following Progression on Immune Checkpoint Inhibition in Recurrent/Metastatic Head and Neck Cancers

Phase 2/3 · Active, not recruiting · National Cancer Institute (NCI)

A Phase III Study Comparing Single-Agent Olaparib or the Combination of Cediranib and Olaparib to Standard Platinum-Based Chemotherapy in Women With Recurrent Platinum-Sensitive Ovarian, Fallopian Tube, or Primary Peritoneal Cancer

Phase 3 · Active, not recruiting · National Cancer Institute (NCI)

A Randomized Phase 2/3 Study of Olaparib Plus Temozolomide Versus Investigator's Choice for the Treatment of Patients With Advanced Uterine Leiomyosarcoma After Progression on Prior Chemotherapy

Phase 2/3 · Active, not recruiting · National Cancer Institute (NCI)
Recently completed

Treatment of Hyperlactatemia in Acute Circulatory Failure Based on Analysis of CO2: a Prospective Randomized Superiority Study (The LACTEL Study)

Phase 4 · Completed · Centre Hospitalier Universitaire Dijon

A Phase 4, Open-Label, Non-Randomized, Multicenter Study to Evaluate Safety and Efficacy of Intravenous Administration of OPTISON™ for Contrast- Enhanced Echocardiography in Pediatric Patients

Phase 4 · Completed · GE Healthcare

The Role of Dexmedetomidine As Myocardial Protection In Pediatric Cyanotic Congenital Heart Disease Undergoing Open Cardiac Surgery Using Cardiopulmonary Bypass Machine: A Preliminary Study

Phase 2/3 · Completed · National Cardiovascular Center Harapan Kita Hospital Indonesia

Sildenafil for Fontan Associated Liver Disease (SiFALD) Study

Phase 3 · Completed · Mayo Clinic

A Phase III Study of Risk Directed Therapy for Infants With Acute Lymphoblastic Leukemia (ALL): Randomization of Highest Risk Infants to Intensive Chemotherapy +/- FLT3 Inhibition (CEP-701, Lestaurtinib; NSC#617807)

Phase 3 · Completed · Children's Oncology Group

Treatment for Very Low and Standard Risk Favorable Histology Wilms Tumor

Phase 3 · Completed · Children's Oncology Group

Associated genes

1 match

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

ABL10.80

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.

Tyrosine-protein kinase ABL1via ABL10.80

Reference

Authoritative identity, definition & identifiers.

Synonyms

marfanoid habitus-facial dysmorphism-skeletal abnormality-heart defect syndrome, CHDSKM

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.