Accurate Assessment and Intervention Research on Newborn Whole Genome Sequencing and Genetic Disease Risk
- Status
- RECRUITING
- Phase
- N/A
Clinical Trials Related to Genetic Disease
Related studies linked through entity extraction aliases.
An Open-label, Single Center, Single Participant Study of an Experimental Antisense Oligonucleotide Treatment for TUBB4A-related Leukodystrophy
- Status
- ACTIVE_NOT_RECRUITING
- Phase
- PHASE1/PHASE2
Multicenter Study of Patients With SHANK3 Mutations: Identification of Genes Modificators in Phelan-McDermid Syndrome (EUQ13)
- Status
- NOT_YET_RECRUITING
- Phase
- NA
Prenatal Cell-free DNA Screening in Pregnancies With Diverse Genetic Risk Profiles Utilizing Targeted and Whole-exome Sequencing
- Status
- NOT_YET_RECRUITING
- Phase
- N/A
Natural History of Type 1 Interferonopathies: Insights From a European Cohort
- Status
- RECRUITING
- Phase
- N/A
Using a Speech-Generating Device to Support Communication in Childhood Dementia
- Status
- RECRUITING
- Phase
- NA
Caspase-1 Activity, IL-1beta, and IL-18 in Patients With FMF
- Status
- NOT_YET_RECRUITING
- Phase
- N/A
Large Language Models To Improve the Quality of Care of Cardiology Patients
- Status
- RECRUITING
- Phase
- NA
Genomic Profiling of Genetic and Rare Diseases
- Status
- RECRUITING
- Phase
- NA
Utility of Gene Test Analysis for Diagnosis, Prognosis and Treatment of Patients With Genetic Arrhythmic Heart Disease: the ARRHYTHMIC GENE-HEART
- Status
- RECRUITING
- Phase
- N/A
Association Between Genetic Polymorphisms and Type 2 Asthma in Children
- Status
- RECRUITING
- Phase
- N/A
N-Care Project: Enhancing Asian-Pacific Collaboration
- Status
- RECRUITING
- Phase
- N/A
Precision Diagnosis and Therapy for Rare Diseases by Interpreting Non-coding Genomes
- Status
- RECRUITING
- Phase
- N/A
Clinical Decision Support to Identify Pediatric Patients With Undiagnosed Genetic Disease
- Status
- ACTIVE_NOT_RECRUITING
- Phase
- NA
Pediatric Neurogenetic Diagnosis Support Platform
- Status
- RECRUITING
- Phase
- NA
STXBP1 and SYNGAP1 Related Disorders Natural History Study
- Status
- RECRUITING
- Phase
- N/A
The Natural History of Mitochondrial Diseases
- Status
- RECRUITING
- Phase
- N/A
Sanger Human Cell Atlasing Project
- Status
- ENROLLING_BY_INVITATION
- Phase
- N/A
Unraveling the Impact of Thalidomide at Diverse Doses in Transfusion Dependent Beta Thalassemia
- Status
- RECRUITING
- Phase
- PHASE2
Biocollection of Rare Pediatric-onset of Autoimmune and Autoinflammatory Diseases
- Status
- RECRUITING
- Phase
- NA