| Recruiting | Genetic Analysis of Uncommon Disease Presentations in Non-US Populations NCT06595940 | National Human Genome Research Institute (NHGRI) | — |
| Not Yet Recruiting | A Longitudinal Study on Family Adaptation and Relationship Dynamics in Pediatric Rare Diseases NCT07497581 | Markus A. Landolt | — |
| Not Yet Recruiting | Implementation of Long-read Sequencing for the Diagnosis of Rare Diseases. NCT07400913 | University Hospital, Bordeaux | — |
| Not Yet Recruiting | Identification of Cellular Biomarkers of Rare Eye Diseases in Adults NCT07063719 | Institut National de la Santé Et de la Recherche Médicale, France | N/A |
| Suspended | Epidemiological Study of Treatment Approaches on AQP4-IgG Positive NMOSD in Russia NCT07247292 | AstraZeneca | — |
| Recruiting | Epidemiological Study of Treatment Approaches in AChR-Antibody Positive Generalized Myasthenia Gravis in Russi NCT07247279 | AstraZeneca | — |
| Recruiting | Genetic Study to Determine the Cause of Birth Defects in Newborns in Texas NCT07102966 | Baylor College of Medicine | N/A |
| Enrolling By Invitation | Fibroblasts and Thoracic Aortic Aneurysms: in Vitro Characterization in With Marfan Syndrome and Genetic Aorti NCT06786754 | IRCCS Policlinico S. Donato | — |
| Withdrawn | Understanding the Natural History Early in the Course or Presentation of Friedreich Ataxia NCT06560346 | Friedreich's Ataxia Research Alliance | — |
| Recruiting | Ascending Doses of Crofelemer Powder for Oral Solution in Pediatric Microvillus Inclusion Disease (MVID) NCT06721871 | Napo Pharmaceuticals, Inc. | Phase 2 |
| Recruiting | BEhavioral and Adherence Model for Improving Quality, Health Outcomes and Cost-Effectiveness of healthcaRe NCT06856902 | Technical University of Madrid | N/A |
| Recruiting | Clinical Trial of the Dual Vector Base Editor for the Treatment of the CHD3-R1025W Mutation NCT06860672 | Yongguo Yu | EARLY_Phase 1 |
| Recruiting | Retrospective Epidemiological Study of Patients in the National Cohort of the French TMA Center NCT07205861 | Assistance Publique - Hôpitaux de Paris | — |
| Recruiting | Genomic Profiling of Genetic and Rare Diseases NCT06926127 | Fondazione Policlinico Universitario Agostino Gemelli IRCCS | N/A |
| Recruiting | PREcision Diagnostics in Rare genetIC Diseases and Tumors - Long Read Sequencing NCT06796751 | IRCCS Azienda Ospedaliero-Universitaria di Bologna | — |
| Recruiting | DeciFace: Decipher the Influence of Ethnic Backgrounds on the Facial Dysmorphic Features of Rare Mendelian Dis NCT05913843 | National Taiwan University Hospital | — |
| Completed | Using Social Robots in Children With Rare Diseases and Their Parents: A Feasibility Study NCT06466109 | National Yang Ming Chiao Tung University | N/A |
| Recruiting | Institutional Registry of Rare Diseases NCT06573723 | Hospital Italiano de Buenos Aires | — |
| Recruiting | FLOWER: Following Longitudinal Outcomes With Epidemiology for Rare Diseases NCT06539169 | xCures | — |
| Completed | Evaluation of the French Version of the PEERS Social Skills Training Program for Adolescents With Rare Neurode NCT06612333 | Imagine Institute | — |
| Not Yet Recruiting | Validation of Human Drugs Target of Repurposed Drugs and Novel Therapies NCT06412718 | IRCCS Ospedale San Raffaele | — |
| Recruiting | Baker Gordon Syndrome Natural History Study NCT06399952 | University of Missouri-Columbia | — |
| Recruiting | Umbrella Study for Single Patient Treatments in Oncology NCT06285500 | University Health Network, Toronto | — |
| Completed | Fluoxetine in KCNC1-related Disorder NCT06341127 | Holland Bloorview Kids Rehabilitation Hospital | N/A |
| Recruiting | Evaluation of Socio-professional Inclusion for Young Adults Aged 15-25 Living With a Rare Genetic Disability NCT07527624 | Imagine Institute | — |
| Recruiting | Blood Spot and Urine Metabolomic Screening Applied to Rare Diseases NCT06360913 | Cliniques universitaires Saint-Luc- Université Catholique de Louvain | N/A |
| Unknown | Vocal Pattern Assessment as a New Key to Identifying Rare Syndromes NCT05955794 | Fondazione Policlinico Universitario Agostino Gemelli IRCCS | N/A |
| Unknown | Cannabidiol in Children and Young Adults With Rare Disease-associated Severe Epilepsy NCT05803434 | Meyer Children's Hospital IRCCS | Phase 2 |
| Recruiting | Gait and Balance Impairment in Rare and Very Rare Neurological Diseases NCT06343558 | Istituto Auxologico Italiano | — |
| Recruiting | Rheopheresis as Adjuvant Treatment of Calciphylaxis NCT04654000 | University Hospital, Lille | N/A |
| Active Not Recruiting | Analysis of Muscular Properties in Patients With MFS and EDS NCT05720923 | IRCCS Policlinico S. Donato | — |
| Recruiting | Aortic Stiffness in Patients With Genetic Aortopathies NCT05715203 | IRCCS Policlinico S. Donato | — |
| Recruiting | Rare Tumours in Children and Adolescents (STEP) NCT05773651 | University Hospital Tuebingen | — |
| Recruiting | Marfan Syndrome (MFS) and Facial Dysmorphism: Non-invasive 3D Assessment NCT05702476 | IRCCS Policlinico S. Donato | — |
| Unknown | Psychological Support in Adult Patients With Marfan Syndrome NCT05712577 | IRCCS Policlinico S. Donato | — |
| Completed | Fatigue, Depressive Disorders and Insomnia in Adult Patients with Marfan Syndrome and Ehlers-Danlos Syndrome: NCT05712564 | IRCCS Policlinico S. Donato | — |
| Active Not Recruiting | Marfan Syndrome and Quality of Life of Pediatric Patients NCT05748314 | IRCCS Policlinico S. Donato | — |
| Recruiting | Functional Study to Indentify Genetic Etiology of Rare Diseases - ORIGIN NCT05499091 | University Hospital, Angers | N/A |
| Recruiting | A Multi-Site Leukopak Repository Providing Annotated Biospecimens for Approved Investigator-Directed Biomedica NCT05794217 | Sanguine Biosciences | — |
| Unknown | A Lifecourse Map of Diseases in China NCT05612230 | Shandong University | — |
| Recruiting | Severe Bullous Drug Eruption and Filgrastim NCT04651439 | Hospices Civils de Lyon | Phase 2 / Phase 3 |
| Unknown | Personalized Therapy of Patients Suffering From Rare Genodermatoses NCT05680974 | Johannes Kepler University of Linz | — |
| Recruiting | Solving Riddles Through Sequencing NCT05046444 | Munich Leukemia Laboratory | — |
| Enrolling By Invitation | SLC13A5 Deficiency Natural History Study - United States Only NCT06144957 | TESS Research Foundation | — |
| Active Not Recruiting | Investigation of the Neurovegetative Pattern in Patients With Thoracic Aortic Aneurysms (TAA) NCT05703893 | IRCCS Policlinico S. Donato | — |
| Completed | Oral Health Related Quality of Life of Patients With Rare Diseases: a Qualitative Approach NCT05070988 | Assistance Publique - Hôpitaux de Paris | — |
| Unknown | European Registry on Rare Neurological Diseases NCT04319796 | University Hospital Tuebingen | — |
| Unknown | Identification of Factors Associated With the Occurrence of Severe Forms of COVID-19 Infection in Patients Wit NCT05026892 | Assistance Publique - Hôpitaux de Paris | — |
| Recruiting | UW Undiagnosed Genetic Diseases Program NCT04586075 | University of Wisconsin, Madison | — |
| Completed | FACE for Children With Rare Diseases NCT04855734 | Children's National Research Institute | N/A |
| Recruiting | Genome-based Management of Patients in Precision Medicine (Ge-Med) Towards a Genomic Health Program NCT04760522 | University Hospital Tuebingen | N/A |
| Unknown | Colombia National Porphyria Registry NCT05496933 | Fundación Grupo de Investigación en Cuidados Intensivos y Obstetricia | — |
| Recruiting | Longitudinal Study of Ultra-rare Inherited Metabolic and Degenerative Neurological Diseases. NCT04880356 | Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta | — |
| Enrolling By Invitation | SLC13A5 Deficiency Natural History Study - Remote Only NCT04681781 | TESS Research Foundation | — |
| Recruiting | Diagnostic Value of Exome/ Genome Sequencing, Conventional Methods in Rare Diseases and Familial Tumor Syndrom NCT04731857 | University Hospital Tuebingen | — |
| Unknown | Pilot Study of Rapid Whole Genome Sequencing of Severely Ill Patients in Pediatric Intensive Care in Belgium NCT05337462 | Centre Hospitalier Universitaire de Liege | — |
| Unknown | Identification of the Genetic Causes of Rare Diseases With Negative Exome Findings NCT04315727 | University Hospital Tuebingen | N/A |
| Unknown | ERN ReCONNET Study on COVID-19 Vaccination in Rare and Complex Connective Tissue Disease (VACCINATE) NCT04702295 | University of Pisa | — |
| Completed | A Study to Evaluate Emapalumab in Japanese Healthy Volunteers. NCT04765553 | Swedish Orphan Biovitrum | Phase 1 |
| Completed | Verification of the Epidemiology and Mortality of Rare Diseases in Taiwan With Real-world Evidence NCT05367115 | National Cheng-Kung University Hospital | — |
| Enrolling By Invitation | Rare and Undiagnosed Disease Research Biorepository NCT04703179 | Mayo Clinic | — |
| Unknown | Intact Cord Resuscitation in CDH NCT04429750 | University Hospital, Lille | N/A |
| Unknown | COVID-19 and Rare Skin Diseases European Observational Study During an Epidemic NCT04451902 | Imagine Institute | — |
| Completed | Psychosocial Situation of Children With Rare (Congenital) Pediatric Surgical Diseases and Their Families NCT04382820 | Universitätsklinikum Hamburg-Eppendorf | — |
| Completed | Audiovestibular Function in Infratentorial Superficial Siderosis NCT04200664 | University College, London | — |
| Enrolling By Invitation | Structural Chromosome Rearrangements and Brain Disorders NCT06072079 | Karolinska Institutet | — |
| Recruiting | Genetic Causes of Discrepant Clinic in Monogenic Twins NCT04046796 | University Hospital Tuebingen | — |
| Recruiting | Diagnostic Research in Patients With Rare Diseases -Solving the Unsolved Rare Diseases NCT04024774 | Centre Hospitalier Universitaire Dijon | — |
| Unknown | Functional Genomics of Rare Genetic Diseases: Realization of Innovative Tools With High Diagnostic Power NCT04152876 | Neuromed IRCCS | — |
| Completed | Whole Genome Trio Sequencing as a Standard Routine Test in Patients With Rare Diseases - "GENOME FIRST APPROAC NCT03954652 | University Hospital Tuebingen | N/A |
| Recruiting | Longitudinal Studies of Patient With FPDMM NCT03854318 | National Human Genome Research Institute (NHGRI) | — |
| Recruiting | Epilepsy Learning Healthcare System (ELHS) NCT06265103 | Epilepsy Foundation of America | — |
| Completed | Mitochondrial Diseases - Long-read Genome and Transcriptome Sequencing in Cases Unresolved After Short-read Ge NCT03962452 | University Hospital Tuebingen | N/A |
| Unknown | Children Affected by Rare Disease and Their Families Network NCT04339465 | Silke Wiegand-Grefe, Prof. Dr. | N/A |
| Completed | Dual Guidance Structure for Evaluation of Patients With Unclear Diagnosis in Centers for Rare Diseases NCT03563677 | Wuerzburg University Hospital | N/A |
| Completed | Your Voice; Impact of Duchenne Muscular Dystrophy (DMD) on the Lives of Families NCT03680365 | Jett Foundation, Inc. | — |
| Terminated | A Trial For Participants With Ewing's Sarcoma Treated With Vigil in Combination With Irinotecan and Temozolomi NCT03495921 | Gradalis, Inc. | Phase 3 |
| Completed | Study of A166 in Patients With Relapsed/Refractory Cancers Expressing HER2 Antigen or Having Amplified HER2 Ge NCT03602079 | Klus Pharma Inc. | Phase 1 / Phase 2 |
| Unknown | Diagnostic Research in Patients With Rare Diseases - Solving the Unsolved Rare Diseases NCT03491280 | University Hospital Tuebingen | — |
| Unknown | Burosumab in Children and Adolescents With X-linked Hypophosphatemia NCT04419363 | Bicetre Hospital | Phase 4 |
| Unknown | 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 | — |
| Recruiting | Swiss Rare Disease Registry (SRDR) NCT05179863 | University of Bern | — |
| Terminated | Kidney Information Network for Disease Research and Education NCT03321604 | Massachusetts General Hospital | — |
| Completed | The VetSeq Study: a Pilot Study of Genome Sequencing in Veteran Care NCT03380819 | VA Boston Healthcare System | N/A |
| Unknown | MigALastat Therapy Adherence Among FABRY Patients: A Prospective Multicentral Observational Study NCT03683966 | Wuerzburg University Hospital | — |
| Completed | NICUSeq: A Trial to Evaluate the Clinical Utility of Human Whole Genome Sequencing (WGS) Compared to Standard NCT03290469 | Illumina, Inc. | N/A |
| Completed | Pbi-shRNA™ EWS/FLI1 Type 1 LPX in Subjects With Advanced Ewing's Sarcoma NCT02736565 | Gradalis, Inc. | Phase 1 |
| Withdrawn | Finding Genes for Rare Diseases NCT02724995 | University of Kentucky | — |
| Recruiting | Evaluation of HEArt invoLvement in Patients With FABRY Disease NCT03362164 | Wuerzburg University Hospital | — |
| Completed | Evaluate and Understand Preferences and Representations in Families of Patients With Regard to High-throughput NCT02814747 | Centre Hospitalier Universitaire Dijon | N/A |