genetic disease
Information
- Disease name
- genetic disease
- Disease ID
- DOID:630
- Description
- "A disease that has_material_basis_in genetic variations in the human genome." [url:http\://ghr.nlm.nih.gov/]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT05064241 | Active, not recruiting | N/A | Overcoming Barriers to Accessing Genetic Medicine | April 15, 2023 | September 30, 2025 |
| NCT05117827 | Active, not recruiting | N/A | Pediatric Powered Wheelchair Standing Devices: An Exploratory Study | November 12, 2021 | October 31, 2024 |
| NCT06276348 | Active, not recruiting | N/A | Newborn Genomic Sequencing Pilot Study | March 13, 2023 | September 2024 |
| NCT05049967 | Active, not recruiting | iKnow: A Prospective Study to Evaluate the Use of Multi-omics in Multi-System, Early Onset Disorders | November 9, 2021 | December 31, 2024 | |
| NCT05297812 | Active, not recruiting | Alpha-1 Antitrypsin Disease Cohort: Longitudinal Biomarker Study of Disease | March 23, 2022 | January 2027 | |
| NCT06314490 | Active, not recruiting | Phase 1/Phase 2 | Personalized Antisense Oligonucleotide Therapy for Rare Pediatric Genetic Disease: SCN2A | February 16, 2024 | February 16, 2026 |
| NCT03548779 | Active, not recruiting | N/A | North Carolina Genomic Evaluation by Next-generation Exome Sequencing, 2 | September 28, 2018 | September 8, 2024 |
| NCT03292302 | Completed | Phase 1 | Phase 1 Study of ELX-02 in Healthy Adults | September 26, 2017 | December 15, 2017 |
| NCT05643274 | Completed | Use of Long Read Genome Sequencing in Patients Suffering From Neurodevelopmental Troubles | December 19, 2022 | March 8, 2024 | |
| NCT04420858 | Completed | N/A | Effect of Video Education on Patients' Knowledge and Attitudes of Privacy in Prenatal Genetics | July 21, 2020 | October 16, 2020 |
| NCT05123768 | Completed | Genetic Etiology in Patients With Cerebral Palsy | April 1, 2021 | November 1, 2022 | |
| NCT02225522 | Completed | N/A | Genomic Sequencing in Acutely Ill Neonates | October 2014 | September 2016 |
| NCT03309605 | Completed | Phase 1 | Phase 1 Study of ELX-02 in Healthy Adult Subjects | October 11, 2017 | July 17, 2019 |
| NCT03354013 | Completed | N/A | Genetic Screening and Assisted Oocyte Activation in Couples With Diminished/Aberrant Embryonic Development. | January 15, 2018 | September 9, 2022 |
| NCT03380819 | Completed | N/A | The VetSeq Study: a Pilot Study of Genome Sequencing in Veteran Care | December 29, 2017 | December 31, 2022 |
| NCT03401307 | Completed | Central and Peripheral Nervous System Changes as Markers of Disease Progression in Multiple Sclerosis | August 1, 2017 | December 1, 2020 | |
| NCT03420274 | Completed | N/A | Ensuring Patients' Informed Access to Noninvasive Prenatal Testing | February 19, 2018 | June 15, 2023 |
| NCT05443113 | Completed | Young Pectus Excavatum Patients and Genetic Defects | September 1, 2019 | October 1, 2020 | |
| NCT01793090 | Completed | Phase 2 | EPI-743 in Cobalamin C Defect: Effects on Visual and Neurological Impairment | January 2013 | February 2017 |
| NCT04556487 | Completed | Turkish Affordances in the Home Environment for Motor Development-Infant Scale (AHEMD-IS) | October 1, 2020 | February 15, 2023 | |
| NCT04556500 | Completed | Turkish Version of the Affordance in the Home Environment for Motor Development-Toddler (AHEMD-T) | October 1, 2020 | January 15, 2022 | |
| NCT04575350 | Completed | Reinterpretation of CNV With Unknown Significance: a 5-year Retrospective Analysis | January 1, 2019 | June 1, 2020 | |
| NCT04584528 | Completed | N/A | Implementing an Individualized Pain Plan (IPP) for ED Treatment of VOE's in Sickle Cell Disease | October 27, 2020 | October 1, 2022 |
| NCT00359580 | Completed | Genetic Studies in the Amish and Mennonites | February 10, 2004 | ||
| NCT01294345 | Completed | Personalized Genomic Research | January 24, 2011 | September 10, 2020 | |
| NCT03713333 | Completed | N/A | Implementing Digital Health in a Learning Health System | October 20, 2018 | March 20, 2020 |
| NCT03847909 | Completed | Phase 2 | A Study to Evaluate DCR-PHXC in Children and Adults With Primary Hyperoxaluria Type 1 and Primary Hyperoxaluria Type 2 | October 28, 2019 | June 29, 2021 |
| NCT05936749 | Completed | Pre-implantation Genetic Testing for Monogenic Disease: Single Center Experience | January 2, 2016 | December 12, 2022 | |
| NCT03043209 | Completed | Genomic Sequencing in Patients With HCM Undergoing Septal Myectomy | August 30, 2018 | December 28, 2022 | |
| NCT05655741 | Completed | Modified Delphi for Genomic Bereavement Care | October 28, 2022 | March 31, 2023 | |
| NCT06341127 | Enrolling by invitation | N/A | Fluoxetine in KCNC1-related Disorder | January 17, 2024 | December 31, 2025 |
| NCT06072079 | Enrolling by invitation | Structural Chromosome Rearrangements and Brain Disorders | December 20, 2019 | December 2029 | |
| NCT04848090 | Enrolling by invitation | N/A | Genome Sequencing in the Intensive Care Unit Population | July 13, 2020 | November 2024 |
| NCT04042402 | Enrolling by invitation | Phase 3 | Long Term Extension Study in Patients With Primary Hyperoxaluria | July 9, 2019 | April 1, 2030 |
| NCT06089954 | Enrolling by invitation | N/A | Penn Medicine Biobank Return of Results Program | October 20, 2023 | April 1, 2025 |
| NCT06023472 | Not yet recruiting | N/A | Microfluidic Chip vs Density Gradient Centrifugation on the Euploidy Rate of Pre-implantation Genetic Testing | August 1, 2024 | December 31, 2027 |
| NCT06435468 | Not yet recruiting | N/A | Biocollection of Rare Pediatric-onset of Autoimmune and Autoinflammatory Diseases | July 2024 | July 2034 |
| NCT05898009 | Not yet recruiting | N/A | Contribution of Oncogenetics in Breast Cancer in Reunion Epidemiology of Breast Cancer in Reunion: Study of the Reunion Mutation on BRCA2 | August 22, 2023 | March 22, 2026 |
| NCT06089863 | Not yet recruiting | N/A | Rehabilitation Program on Genetic and Degenerative Ataxia | February 1, 2024 | October 1, 2027 |
| NCT06048523 | Not yet recruiting | N/A | Prospective Cohort Study of Neurogenetic Diseases | October 2023 | July 2026 |
| NCT06369974 | Not yet recruiting | Phase 1/Phase 2 | Single Participant Study of an Experimental ASO Treatment for TUBB4A-related Leukodystrophy | June 2024 | June 2026 |
| NCT03612310 | Not yet recruiting | Developing Protocols for Modelling of Genetic Diseases Using Induced Pluripotent Stem Cells | November 1, 2018 | July 1, 2028 | |
| NCT05251467 | Recruiting | A Comprehensive Approach To Relief Of Digestive Symptoms In Cystic Fibrosis: CARDS-CF | February 28, 2022 | September 30, 2023 | |
| NCT02156102 | Recruiting | Insights Into Microbiome and Environmental Contributions to Sickle Cell Disease and Leg Ulcers Study (INSIGHTS Study) | June 16, 2014 | December 31, 2025 | |
| NCT02266615 | Recruiting | Biobank Clinical Genetics Maastricht (KG01) | September 2014 | January 2035 | |
| NCT02450851 | Recruiting | Clinical and Genetic Evaluation of Individuals With Undiagnosed Disorders Through the Undiagnosed Diseases Network | September 16, 2015 | December 31, 2028 | |
| NCT02551081 | Recruiting | Genomic Sequencing and Personalized Treatment for Birth Defects in Neonatal Intensive Care Units | October 1, 2015 | December 30, 2025 | |
| NCT03084224 | Recruiting | Implementation of Molecular Diagnostic Pathways | December 1, 2019 | December 2025 | |
| NCT03291392 | Recruiting | CUHK Stroke Biobank | June 15, 2015 | December 31, 2025 | |
| NCT03301038 | Recruiting | Phase 2 | Rifampin in CYP24A1-related Hypercalcemia and Hypercalciuria | July 25, 2018 | December 2030 |
| NCT03458962 | Recruiting | Diagnostic Odyssey: Whole Genome Sequencing (WGS) | February 20, 2018 | March 2070 | |
| NCT03624374 | Recruiting | Natural History Study of Leukoencephalopathy With Brainstem and Spinal Cord Involvement and Lactate Elevation (LBSL) | April 1, 2018 | May 2029 | |
| NCT03967743 | Recruiting | Application of a Systematic Developmental Assessment to a Novel Population: Infants With Rare Genetic Disorders | August 26, 2019 | December 1, 2024 | |
| NCT03998540 | Recruiting | Improvement of DIAgnostic and Phenotype-genotype Correlation Studies in Patients With MYOpathy Suspected of TITinopathy | December 5, 2019 | May 5, 2025 | |
| NCT04285814 | Recruiting | Technology Development for Noninvasive Prenatal Genetic Diagnosis Using Whole Fetal Cells From Maternal Peripheral Blood | September 1, 2020 | March 2023 | |
| NCT04477863 | Recruiting | Follow-up With Preimplantation Genetic Testing Patients | July 11, 2020 | December 31, 2050 | |
| NCT04586075 | Recruiting | UW Undiagnosed Genetic Diseases Program | July 16, 2021 | October 2025 | |
| NCT04682470 | Recruiting | The Prospective Observational COMPRAYA Cohort Study | June 18, 2021 | June 2035 | |
| NCT05238519 | Recruiting | Phase 3 | Improved Diagnosis of Familial Hypercholesterolemia Across the Northland (ID-FH) | February 15, 2022 | February 2025 |
| NCT05277116 | Recruiting | N/A | The Electronic Medical Records and GEnomics (eMERGE) Network Genomic Risk Assessment | February 16, 2022 | March 1, 2026 |
| NCT05364294 | Recruiting | Molecular Diagnosis of Systemic Autoinflammatory Diseases | May 18, 2022 | May 2, 2033 | |
| NCT05386134 | Recruiting | Adaptive Optics Retinal Imaging in Inherited and Acquired Retinal Disorders | June 13, 2022 | June 13, 2033 | |
| NCT05432349 | Recruiting | Rett Syndrome Registry | August 2, 2022 | July 2028 | |
| NCT05472714 | Recruiting | N/A | Educational Video for Genetic Testing | September 10, 2021 | June 2024 |
| NCT05499091 | Recruiting | N/A | Functional Study to Indentify Genetic Etiology of Rare Diseases - ORIGIN | October 10, 2022 | October 10, 2045 |
| NCT05528744 | Recruiting | Delineating the Molecular Spectrum and the Clinical, Imaging and Neuronal Phenotype of Chopra-Amiel-Gordon Syndrome | August 27, 2022 | December 1, 2026 | |
| NCT05587439 | Recruiting | Investigating Hereditary Risk In Thoracic Cancers (INHERIT) | January 1, 2023 | November 1, 2027 | |
| NCT05609708 | Recruiting | Technological Development and Clinical Parallel Testing of PGT-G | December 12, 2022 | November 1, 2025 | |
| NCT05631509 | Recruiting | Genetic Study of Obstructive Azoospermia | July 1, 2021 | December 31, 2025 | |
| NCT05671744 | Recruiting | N/A | Fetal Cell Analysis From Maternal Blood | November 22, 2021 | September 2023 |
| NCT05747976 | Recruiting | Genetic Disorders of Obesity Program Database | August 30, 2020 | December 31, 2030 | |
| NCT05848271 | Recruiting | Natural History Study of Patients With HPDL Mutations | May 1, 2023 | December 31, 2024 | |
| NCT06081075 | Recruiting | Newborn Genomics Programme | January 15, 2024 | June 2025 | |
| NCT06237790 | Recruiting | A Comparative Analysis of Speech Perception Between Cochlear Implant Patients and DFNB9 Patients Receiving Gene Therapy | April 6, 2024 | December 22, 2026 | |
| NCT06284291 | Recruiting | N/A | Transcranial Magnetic Stimulation (TMS) in Genetic Epilepsies | November 22, 2023 | March 1, 2026 |
| NCT06306521 | Recruiting | N/A | An Adaptive Clinical Trial of BeginNGS Newborn Screening for Hundreds of Genetic Diseases by Genome Sequencing | February 29, 2024 | February 2029 |
| NCT05305729 | Recruiting | Metabolic FingerPrinting | March 1, 2021 | March 2026 | |
| NCT05339932 | Recruiting | N/A | Grand Valley State University (GVSU) Skills on Wheels | May 5, 2022 | December 31, 2024 |
| NCT04399694 | Suspended | Identification and Characterization of Novel Non-Coding Variants That Contribute to Genetic Disorders | March 3, 2020 | April 2026 | |
| NCT00212407 | Terminated | Early Phase 1 | New York Blood Center National Cord Blood Program | February 1993 | November 10, 2011 |
| NCT04069260 | Terminated | Phase 2 | A Phase 2 Study of ELX-02 in Patients With Nephropathic Cystinosis | August 2, 2019 | December 17, 2019 |
| NCT01386515 | Terminated | The Role of Family Functioning in Promoting Adaptation in Siblings of Individuals With Duchenne Muscular Dystrophy (DMD) | June 7, 2011 | January 7, 2016 | |
| NCT05008094 | Unknown status | The Epidemiology of Parkinson's Disease in Croatia and the Influence of Genetic Factors and Microbiota on the Progression and Treatment Outcomes of the Disease (GiOPARK) | May 1, 2020 | February 1, 2024 | |
| NCT03963271 | Unknown status | Noninvasive Electrocardiographic Imaging for Individuals at Risk for Apparently Idiopathic Ventricular Fibrillation. | April 10, 2019 | April 10, 2023 | |
| NCT03642405 | Unknown status | Drug-induced Repolarization ECG Changes | August 15, 2018 | January 1, 2022 | |
| NCT03884426 | Unknown status | Genetic and Phenotypic Characteristics of Mitral Valve Prolapse | December 2010 | December 2021 | |
| NCT03861741 | Unknown status | N/A | A Study to Evaluate the Feasibility of Screening Relatives of Patients Affected by Non-Syndromic Thoracic Aortic Diseases | March 1, 2019 | May 20, 2022 |
| NCT03024047 | Unknown status | Cohort Description of Younger With AV-block | January 2017 | ||
| NCT04729361 | Unknown status | CGH-array in Prenatal Diagnosis of Isolated Severe and Early Intra-uterine Growth Restriction | January 31, 2021 | November 30, 2021 | |
| NCT03918707 | Unknown status | Utility of Rapid Whole Genome Sequencing in the NICU: A Pilot Study | June 1, 2019 | January 2022 | |
| NCT01278277 | Unknown status | Phase 1/Phase 2 | Saffron Supplementation in Stargardt's Disease | February 2011 | December 2017 |
| NCT04248504 | Unknown status | Digital Genetic Assistant (DGA) for Expanded Carrier Screening | February 1, 2020 | January 31, 2022 | |
| NCT04014114 | Unknown status | The Use of Digital Genetic Assistant (DGA) for Expanded Carrier Screening | April 2020 | April 2022 | |
| NCT03658382 | Withdrawn | N/A | Virtual Visits for Results Disclosure | September 2017 | August 2018 |
- Disase is a (Disease Ontology)
- DOID:4
- Cross Reference ID (Disease Ontology)
- MESH:D030342
- Cross Reference ID (Disease Ontology)
- NCI:C3101
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:32895009
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0019247