NCT04703179 Rare and Undiagnosed Disease Research Biorepository Status ENROLLING_BY_INVITATION Phase N/A
NCT04702295 ERN ReCONNET Study on COVID-19 Vaccination in Rare and Complex Connective Tissue Disease (VACCINATE) Status UNKNOWN Phase N/A
NCT04681781 SLC13A5 Deficiency Natural History Study - Remote Only Status ENROLLING_BY_INVITATION Phase N/A
NCT04451902 COVID-19 and Rare Skin Diseases European Observational Study During an Epidemic Status UNKNOWN Phase N/A
NCT04419363 Burosumab in Children and Adolescents With X-linked Hypophosphatemia Status UNKNOWN Phase PHASE4
NCT04382820 Psychosocial Situation of Children With Rare (Congenital) Pediatric Surgical Diseases and Their Families Status COMPLETED Phase N/A
NCT04315727 Identification of the Genetic Causes of Rare Diseases With Negative Exome Findings Status RECRUITING Phase NA
NCT04200664 Audiovestibular Function in Infratentorial Superficial Siderosis Status COMPLETED Phase N/A
NCT04152876 Functional Genomics of Rare Genetic Diseases: Realization of Innovative Tools With High Diagnostic Power Status UNKNOWN Phase N/A
NCT04024774 Diagnostic Research in Patients With Rare Diseases -Solving the Unsolved Rare Diseases Status RECRUITING Phase N/A
NCT03962452 Mitochondrial Diseases - Long-read Genome and Transcriptome Sequencing in Cases Unresolved After Short-read Genomics Status COMPLETED Phase NA
NCT03954652 Whole Genome Trio Sequencing as a Standard Routine Test in Patients With Rare Diseases - "GENOME FIRST APPROACH" Status COMPLETED Phase NA