| Personalized Therapy of Patients Suffering From Rare Genodermatoses (NCT05680974) | Johannes Kepler University of Linz | 2022-03-18 |
| Solving Riddles Through Sequencing (NCT05046444) | Munich Leukemia Laboratory | 2022-01-19 |
| SLC13A5 Deficiency Natural History Study - United States Only (NCT06144957) | TESS Research Foundation | 2021-12-01 |
| Investigation of the Neurovegetative Pattern in Patients With Thoracic Aortic Aneurysms (TAA) (NCT05703893) | IRCCS Policlinico S. Donato | 2021-11-09 |
| Oral Health Related Quality of Life of Patients With Rare Diseases: a Qualitative Approach (NCT05070988) | Assistance Publique - Hôpitaux de Paris | 2021-10-20 |
| European Registry on Rare Neurological Diseases (NCT04319796) | University Hospital Tuebingen | 2021-10-01 |
| Identification of Factors Associated With the Occurrence of Severe Forms of COVID-19 Infection in Patients With Inflammatory Rheumatism or Autoimmune Diseases (NCT05026892) | Assistance Publique - Hôpitaux de Paris | 2021-08-01 |
| UW Undiagnosed Genetic Diseases Program (NCT04586075) | University of Wisconsin, Madison | 2021-07-16 |
| FACE for Children With Rare Diseases (NCT04855734) | Children's National Research Institute | 2021-07-06 |
| Genome-based Management of Patients in Precision Medicine (Ge-Med) Towards a Genomic Health Program (NCT04760522) | University Hospital Tuebingen | 2021-06-01 |
| Colombia National Porphyria Registry (NCT05496933) | Fundación Grupo de Investigación en Cuidados Intensivos y Obstetricia | 2021-04-01 |
| SLC13A5 Deficiency Natural History Study - Remote Only (NCT04681781) | TESS Research Foundation | 2021-03-01 |
| Diagnostic Value of Exome/ Genome Sequencing, Conventional Methods in Rare Diseases and Familial Tumor Syndromes (NCT04731857) | University Hospital Tuebingen | 2021-02-18 |
| Pilot Study of Rapid Whole Genome Sequencing of Severely Ill Patients in Pediatric Intensive Care in Belgium (NCT05337462) | Centre Hospitalier Universitaire de Liege | 2021-02-08 |
| ERN ReCONNET Study on COVID-19 Vaccination in Rare and Complex Connective Tissue Disease (VACCINATE) (NCT04702295) | University of Pisa | 2021-02-01 |
| Identification of the Genetic Causes of Rare Diseases With Negative Exome Findings (NCT04315727) | University Hospital Tuebingen | 2021-02-01 |
| A Study to Evaluate Emapalumab in Japanese Healthy Volunteers. (NCT04765553) | Swedish Orphan Biovitrum | 2021-01-14 |
| Verification of the Epidemiology and Mortality of Rare Diseases in Taiwan With Real-world Evidence (NCT05367115) | National Cheng-Kung University Hospital | 2020-12-09 |
| Rare and Undiagnosed Disease Research Biorepository (NCT04703179) | Mayo Clinic | 2020-11-20 |
| Intact Cord Resuscitation in CDH (NCT04429750) | University Hospital, Lille | 2020-10-08 |
| COVID-19 and Rare Skin Diseases European Observational Study During an Epidemic (NCT04451902) | Imagine Institute | 2020-06-30 |
| Psychosocial Situation of Children With Rare (Congenital) Pediatric Surgical Diseases and Their Families (NCT04382820) | Universitätsklinikum Hamburg-Eppendorf | 2020-04-01 |
| Audiovestibular Function in Infratentorial Superficial Siderosis (NCT04200664) | University College, London | 2020-02-07 |
| Structural Chromosome Rearrangements and Brain Disorders (NCT06072079) | Karolinska Institutet | 2019-12-20 |
| Genetic Causes of Discrepant Clinic in Monogenic Twins (NCT04046796) | University Hospital Tuebingen | 2019-12-01 |
| Diagnostic Research in Patients With Rare Diseases -Solving the Unsolved Rare Diseases (NCT04024774) | Centre Hospitalier Universitaire Dijon | 2019-11-14 |
| Functional Genomics of Rare Genetic Diseases: Realization of Innovative Tools With High Diagnostic Power (NCT04152876) | Neuromed IRCCS | 2019-10-31 |
| Whole Genome Trio Sequencing as a Standard Routine Test in Patients With Rare Diseases - "GENOME FIRST APPROACH" (NCT03954652) | University Hospital Tuebingen | 2019-10-01 |
| Longitudinal Studies of Patient With FPDMM (NCT03854318) | National Human Genome Research Institute (NHGRI) | 2019-03-28 |
| Epilepsy Learning Healthcare System (ELHS) (NCT06265103) | Epilepsy Foundation of America | 2019-03-20 |
| Mitochondrial Diseases - Long-read Genome and Transcriptome Sequencing in Cases Unresolved After Short-read Genomics (NCT03962452) | University Hospital Tuebingen | 2019-03-01 |
| Children Affected by Rare Disease and Their Families Network (NCT04339465) | Silke Wiegand-Grefe, Prof. Dr. | 2019-01-01 |
| Dual Guidance Structure for Evaluation of Patients With Unclear Diagnosis in Centers for Rare Diseases (NCT03563677) | Wuerzburg University Hospital | 2018-10-15 |
| A Trial For Participants With Ewing's Sarcoma Treated With Vigil in Combination With Irinotecan and Temozolomide (NCT03495921) | Gradalis, Inc. | 2018-08-21 |
| Diagnostic Research in Patients With Rare Diseases - Solving the Unsolved Rare Diseases (NCT03491280) | University Hospital Tuebingen | 2018-05-01 |
| Burosumab in Children and Adolescents With X-linked Hypophosphatemia (NCT04419363) | Bicetre Hospital | 2018-03-18 |
| Whole Genome Sequencing in the Detection of Rare Undiagnosed Genetic Diseases in Children in China (NCT03424772) | Xinhua Hospital, Shanghai Jiao Tong University School of Medicine | 2018-01-18 |
| Swiss Rare Disease Registry (SRDR) (NCT05179863) | University of Bern | 2018-01-01 |
| Kidney Information Network for Disease Research and Education (NCT03321604) | Massachusetts General Hospital | 2018-01-01 |
| MigALastat Therapy Adherence Among FABRY Patients: A Prospective Multicentral Observational Study (NCT03683966) | Wuerzburg University Hospital | 2017-10-27 |
| NICUSeq: A Trial to Evaluate the Clinical Utility of Human Whole Genome Sequencing (WGS) Compared to Standard of Care in Acute Care Neonates and Infants (NCT03290469) | Illumina, Inc. | 2017-09-14 |
| Pbi-shRNA™ EWS/FLI1 Type 1 LPX in Subjects With Advanced Ewing's Sarcoma (NCT02736565) | Gradalis, Inc. | 2016-10-01 |
| Finding Genes for Rare Diseases (NCT02724995) | University of Kentucky | 2016-02-01 |
| Evaluation of HEArt invoLvement in Patients With FABRY Disease (NCT03362164) | Wuerzburg University Hospital | 2001-01-01 |