Abnormalities, Multiple clinical trials
The registry lists 27 studies for Abnormalities, Multiple across 7 countries. 6 are recruiting or about to start. Per ClinicalTrials.gov, last updated 2026-09-22.
Status
- Completed
- 15
- Recruiting
- 5
- Status unknown
- 4
- Terminated
- 2
- Available
- 1
Phase
- Phase 4
- 3
- Early Phase 1
- 1
Where
- United States
- 15
- France
- 4
- China
- 2
- Australia
- 2
- Egypt
- 1
- Turkey
- 1
Who runs them
National Human Genome Research Institute (NHGRI) (3) · University Hospital, Montpellier (2) · University of California, San Francisco (2) · Hugo W. Moser Research Institute at Kennedy Krieger, Inc. (1) · Manchester University NHS Foundation Trust (1) · AOBiome LLC (1) · National Center for Research Resources (NCRR) (1) · Baylor College of Medicine (1)
Studies
Recruiting first, then most recently updated. Showing 27 of 27 — search for more.
- Study of Proteus Syndrome and Related Congenital DisordersRecruitingNCT000014031 country
- Molecular Genetics of Heterotaxy and Related Congenital Heart DefectsRecruitingNCT024320791 country
- Contribution of Optical Genome Mapping (OGM) in the Diagnosis of Multiple Congenital Malformations With or Without Intellectual Disability Without Genetic AbnormalityRecruitingNCT07370792Not applicable1 country
- Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at SanfordRecruitingNCT017931682 countries
- Genetic Inclusion by Virtual EvaluationRecruitingNCT05318222Not applicable1 country
- Use Massive Parallel Sequencing and Exome Capture Technology to Sequence the Exome of Fanconi Anemia Children and Their PatentsAvailableNCT019953051 country
- Study of Modified Atkins Diet in Kabuki SyndromeCompletedNCT04722315Early Phase 11 country
- Screening for Sacral Agenesis in Offspring of Mothers With Diabetes in PregnancyTerminatedNCT050332751 country
- Microarray Application in Newborns With Multiple Congenital AnomaliesCompletedNCT06694896Not applicable1 country
- Guanfacine Extended Release for the Reduction of Aggression and Self-injurious Behavior Associated With Prader-Willi SyndromeCompletedNCT05657860Phase 41 country
- Clinical Utility of Pediatric Whole Exome SequencingCompletedNCT03525431Not applicable1 country
- Clinical Utility of Prenatal Whole Exome SequencingCompletedNCT03482141Not applicable1 country
- Laser to Aid in Treatment of Keratosis Pilaris on ArmsStatus unknownNCT05666011Not applicable
- Development and Validation of an Investigator Global Assessment Score for Keratosis PilarisStatus unknownNCT055355171 country
- Efficacy and Safety of Salkera Emollient Foam in the Treatment of Moderate to Severe Keratosis Pilaris, a Prospective StudyTerminatedNCT00944216Phase 41 country
- Treatment of Keratosis Pilaris With 810 nm Diode LaserCompletedNCT01281644Not applicable1 country
- Long-pulsed 1064 nm Nd-YAG Laser Versus TCA 20% in Treatment of Keratosis PilarisCompletedNCT04797663Phase 41 country
- Evaluating Face-Recognition Technology in Syndrome DiagnosisCompletedNCT04709965Not applicable1 country
- Exploiting Epigenome Editing in Kabuki Syndrome: a New Route Towards Gene Therapy for Rare Genetic DisordersCompletedNCT038556311 country
- Assessment of Memory in Children With Kabuki SyndromCompletedNCT03547609Not applicable1 country
- Enhancing Genomic Laboratory Reports to Enhance Communication and Empower PatientsCompletedNCT02504502Not applicable
- Whole Genome Sequencing in the Detection of Rare Undiagnosed Genetic Diseases in Children in ChinaStatus unknownNCT034247721 country
- French Kabuki Syndrome Network. Epidemiology, Management of Patients and Research by Array-CGHCompletedNCT013145341 country
- Cosmetic Study of AO+Mist in Improving the Appearance of Skin Afflicted With Keratosis PilarisCompletedNCT03243617Not applicable1 country
- The Experience of Uncertainty in Parents of Children With an Undiagnosed Medical ConditionCompletedNCT009553701 country
- Genetic Analysis of Fraser Syndrome and Fryns SyndromeCompletedNCT000328771 country
- Immunologic Evaluation in Patients With DiGeorge Syndrome or Velocardiofacial SyndromeStatus unknownNCT000051021 country