Rare Diseases |
ChiCTR2000035774: Multimodal MRI study of brain structure and functional network abnormalities in neuro-Behet's syndrome with cognitive impairment |
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| Recruiting | N/A | 100 | | Nil ;Nil | Huadong Hospital Affiliated to Fudan University; Huadong Hospital Affiliated to Fudan University, Government and hospital funding | Neuro-Behet's Syndrome | | | | |
| Recruiting | N/A | 100 | Europe | Next Generation Sequencing, NGS, Whole genome Sequencing | Munich Leukemia Laboratory, Illumina, Inc. | Leukemia, Hematologic Malignancy, Rare Diseases, Refractory Leukemia, Refractory Lymphoma, Unknown Primary Tumors | 08/23 | 10/26 | | |
ChiCTR2300072653: Disease Burden of Eosinophilic Granulomatosis with Polyangiitis in China |
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| Completed | N/A | 198 | | No | Guangzhou Medical University affiliated with the first hospital; Guangzhou Medical University affiliated with the first hospital, GlaxoSmithKline (China) Investment Co., Ltd | Eosinophilic granulomatous polyangitis | | | | |
NCT05971563: Amino Acid Kinetics of GMP-AA in Healthy Human Volunteers |
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| Active, not recruiting | N/A | 20 | Europe | Casein, L-amino acids, CGMP-AA | Birmingham Women's and Children's NHS Foundation Trust | Phenylketonurias | 08/23 | 08/23 | | |
NCT04681781: SLC13A5 Deficiency Natural History Study - Remote Only |
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| Enrolling by invitation | N/A | 20 | US | | TESS Research Foundation, Stanford University | Citrate Transporter Deficiency, Epilepsy, Rare Diseases, Movement Disorders, Genetic Disorder, SLC13A5 Deficiency, EIEE25, Kohlschutter-Tonz Syndrome (Non-ROGDI), 17p13.1 Deletions Confined to SLC13A5 Gene, Citrate Transporter Disorder | 09/24 | 09/25 | | |
| Completed | N/A | 165 | Europe | Questionnaire and interview | Haemnet, BioMarin Pharmaceutical | Hemophilia | 09/23 | 09/23 | | |
NCT05532826: Clinical Study of Donor EBV-CTL Infusion in Patients With CAEBV and EBV-HLH After Allo-HSCT |
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| Recruiting | N/A | 15 | RoW | donor EBV-specific T lymphocytes | Beijing Friendship Hospital | Chronic Active Epstein-Barr Virus Infection, Virus-Associated Hemophagocytic Syndrome | 09/23 | 09/24 | | |
NCT00046202: Study of Inborn Errors of Cholesterol Synthesis and Related Disorders |
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| Recruiting | N/A | 1000 | US | | Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) | Lysosomal Storage Disease, Cholesterol Metabolism | | | | |
| Recruiting | N/A | 30 | US | PheCheck™, HPLC Amino Acid Analyzer, Dried Blood Spot Cards | Lumos Diagnostics, Aptatek Biosciences | Phenylketonurias | 01/24 | 03/24 | | |
| Enrolling by invitation | N/A | 1050 | US | | National Human Genome Research Institute (NHGRI) | Lysosomal Storage Disorders, Gaucher Disease, Parkinson Disease | | | | |
PKU_Guide, NCT05128149: Metabolic Control and Patient Well-being in Phenylketonuria: do Guidelines Make a Difference? |
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| Recruiting | N/A | 200 | Europe | no intervention | University Children's Hospital, Zurich, UChildrenVienna, University Children's Hospital Basel, Insel Gruppe AG, University Hospital Bern | Phenylketonurias | 06/24 | 12/24 | | |
NCT05879549: Comparison of Efficiency of Closed Kinetic Chain Exercises Versus Proprioceptive Exercises Patient With Hemophilia |
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| Recruiting | N/A | 63 | RoW | Closed Chain Exercise Group, Proprioceptive Exercise Group | Bahçeşehir University | Hemophilia A, Hemophilia B | 03/24 | 05/25 | | |
| Terminated | N/A | 200 | US | Questionnaires | Mayo Clinic | Esophageal Achalasia, Achalasia, Achalasia, Esophageal | 01/21 | 01/21 | | |
| Active, not recruiting | N/A | 11 | US | | Johns Hopkins University | Paget's Disease of Bone | 10/24 | 12/24 | | |
IMMUNHEMAC, NCT04805021: Acquired Hemophilia A and Autoimmunity. Study of Lymphocyte Populations and Myeloid-Derived Suppressor Cells |
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| Recruiting | N/A | 40 | Europe | no intervention | Nantes University Hospital | Hemophilia A | 06/24 | 06/25 | | |
| Recruiting | N/A | 125 | Europe | Questionnaire | IRCCS Policlinico S. Donato | Rare Diseases, Marfan Syndrome, Psychology, Social | 10/24 | 10/24 | | |
FAMED, NCT05712564: Fatigue, Depressive Disorders and Insomnia in Adult Patients With Marfan Syndrome and Ehlers-Danlos Syndrome: Survey |
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| Completed | N/A | 400 | Europe | Questionnaire | IRCCS Policlinico S. Donato, Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico | Rare Diseases, Fatigue, Insomnia, Depression | 04/23 | 05/23 | | |
ChiCTR2100051430: HSP70 regulates cytokine secretion by acting on monocytes and further affects the clinical outcome of hemophagocytic lymphohistiocytosis |
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| Not yet recruiting | N/A | 90 | | none ;None ;None | Wuhan Children's Hospital; Wuhan Children's Hospital, Wuhan Municipal Commission of health | hemophagocytic lymphohistiocytosis | | | | |
NCT06310421: Spinal Muscular Atrophy Neonatal Screening Program |
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| Recruiting | N/A | 11500 | Europe | Screening SMA test | IRCCS Burlo Garofolo | Spinal Muscular Atrophy | 05/26 | 05/26 | | |
| Available | N/A | | NA | Pozelimab, REGN3918 | Regeneron Pharmaceuticals | Paroxysmal Nocturnal Hemoglobinuria (PNH), CD55-deficient Protein-losing Enteropathy (PLE), CD59 Deficiency | | | | |
NCT05326113: The Effect of Physiotherapy on Post POEM Reflux |
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| Recruiting | N/A | 30 | RoW | Physiotherapy, Control group | Institute for Clinical and Experimental Medicine | Reflux, Gastroesophageal, Achalasia, Esophagitis | 08/24 | 01/25 | | |
NCT05899075: Evaluation of Xylitol Wipes as an Oral Hygiene Protocol for Haemophilic Children |
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| Active, not recruiting | N/A | 30 | RoW | xylitol wipes, placebo wipes | Al-Azhar University | Haemophilia | 10/23 | 10/23 | | |
| Recruiting | N/A | 16 | RoW | Individual physiotherapy (SMA-SOC), Hippotherapy, Hippotherapy by the children with cerebral palsy (HT by CP), Therapeutic grooming | Charles University, Czech Republic | Spinal Muscular Atrophy | 10/23 | 10/24 | | |
NCT00040352: Clinical, Laboratory, and Epidemiologic Characterization of Individuals and Families at High Risk of Melanoma |
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| Recruiting | N/A | 3000 | US | | National Cancer Institute (NCI) | Melanoma, Dysplastic Nevus Syndrome | | | | |
REAL, NCT05395858: A Study to Learn More About Treatment With Damoctocog Alfa Pegol, How it is Used in Every Day Practice ("Real-World"), and How Satisfied People Who Receive Damoctocog Alfa Pegol Are in United States (US) Hemophilia Treatment Centers |
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| Terminated | N/A | 14 | US | No intervention | Bayer | Hemophilia A | 11/23 | 11/23 | | |
Achalaglie, NCT04112693: Assessment of the Neuro-glio-epithelial Unit (NGEU) in Biopsies Taken During Peroral Endoscopic Myotomy (POEM) for Achalasia: a Feasibility and Safety Study. |
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| Completed | N/A | 28 | Europe | Esophageal biopsies during Peroral Endoscopic Myotomy (POEM) | Nantes University Hospital, Rennes University Hospital, University Hospital, Angers, LA ROCHE SUR YON HOSPITAL, Hospices Civils de Lyon | Esophageal Achalasia | 11/23 | 11/23 | | |
ZTWINS, NCT05312814: Clinical Utility of the Addition of a SNP-based NIPT Zygosity Determination in Twin Pregnancy Management. |
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| Completed | N/A | 137 | US | | Natera, Inc. | Twin to Twin Transfusion Syndrome, Pregnancy Complications, Multiple Gestation; Maternal Care | 05/23 | 05/23 | | |
UERH-AR-ZT-09, NCT06405412: Effects of Malnutrition on Respiratory and Renal Functions in Patients Undergoing Peroral Endoscopic Myotomy (POEM) |
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| Recruiting | N/A | 60 | RoW | MUST malnutrition score | Umraniye Education and Research Hospital | Esophageal Achalasia | 06/24 | 08/24 | | |
NCT00006518: Specimen Collections From Participants With HIV Infection, KSHV Infection, Viral-Related Pre-malignant Lesions and Cancer |
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| Recruiting | N/A | 999 | US | | National Cancer Institute (NCI) | HIV, Kaposi's Sarcoma, Lymphomas, Multicentric Castleman's Disease, Primary Effusion Lymphoma | | | | |
NCT01087320: Whole Genome Medical Sequencing for Genome Discovery |
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| Recruiting | N/A | 2000 | US | | National Human Genome Research Institute (NHGRI) | Intellectual Disabilities, Congenital Anomaly, Rare Disorders | | | | |
NCT01276470: Environmental Risk Factors for the Anti-synthetase Syndrome |
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| Recruiting | N/A | 450 | US | | National Institute of Environmental Health Sciences (NIEHS) | Myositis, Dermatomyositis, Polymyositis, Juvenile Dermatomyositis, Juvenile Polymyositis | | | | |
NCT04921956: Compassionate Use of Concizumab if You Have Haemophilia |
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| Available | N/A | | Europe, US | Concizumab | Novo Nordisk A/S | Congenital Haemophilia | | | | |
| Recruiting | N/A | 1000 | RoW | | AstraZeneca | Paroxysmal Nocturnal Hemoglobinuria | 11/25 | 11/25 | | |
| Not yet recruiting | N/A | 130 | NA | Colchicine | Istanbul University - Cerrahpasa (IUC) | Behçet's Syndrome | 05/24 | 07/24 | | |
| Active, not recruiting | N/A | 395 | US | | American Thrombosis and Hemostasis Network, Genentech, Inc. | Hemophilia A With Inhibitor, Haemophilia A Without Inhibitor, Hemophilia B With Inhibitor, Haemophilia B Without Inhibitor | 11/24 | 12/24 | | |
NCT05274633: Real Life Use of Ravulizumab in Italian Patients With Paroxysmal Nocturnal Hemoglobinuria |
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| Recruiting | N/A | 120 | Europe | Ravulizumab, Ultomiris | Alexion Pharmaceuticals, Inc. | Paroxysmal Nocturnal Hemoglobinuria | 06/24 | 02/25 | | |
| Recruiting | N/A | 20 | Europe | power mobility | University of Castilla-La Mancha | Spinal Muscular Atrophy | 11/23 | 02/24 | | |
NCT05437211: A Proof-of-concept Study to Reduce Treatment Burden in Haemophilia Participants Receiving Factor VIII and Factor IX Infusions |
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| Completed | N/A | 24 | Europe | Virtual-reality (VR) Based Solution | Takeda | Hemophilia | 02/24 | 02/24 | | |
ChiCTR2300070749: Observing the clinical efficacy of Lingnan herbal medicine combined with traditional Chinese medicine spleen-tonifying and kidney-nourishing method on NMO/NMOSD from the perspective of the 'microbiota-gut-brain' axis in a real-world study |
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| Recruiting | N/A | 99 | | Lingnan herbal medicine combined with spleen-tonifying and kidney-nourishing traditional Chinese medicine plus Western medicine treatment ;Western medicine treatment | Shenzhen Traditional Chinese Medicine Hospital The Fourth Clinical Medical College of Guangzhou University of Chinese Medicine; Shenzhen Traditional Chinese Medicine Hospital, Allocation of Funds from Superior Authorities and Hospital Matching | Neuromyelitis optica/Neuromyelitis optica spectrum disorders | | | | |
| Recruiting | N/A | 50 | Canada, US | | Peter Merkel, National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Center for Advancing Translational Sciences (NCATS), Office of Rare Diseases Research (ORDR) | Cryoglobulinemic Vasculitis (CV), Drug-induced Vasculitis, Eosinophilic Granulomatosis With Polyangiitis (EGPA), IgA Vasculitis, Isolated Cutaneous Vasculitis, Granulomatosis With Polyangiitis (GPA), Microscopic Polyangiitis (MPA), Polyarteritis Nodosa (PAN), Urticarial Vasculitis, Vasculitis | 12/24 | 12/24 | | |
NCT03793114: Screening and Stimulation Testing for Residual Secretion of Adrenal Steroid Hormones in Autoimmune Addison's Disease |
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| Active, not recruiting | N/A | 200 | Europe | Cosyntropin stimulation test, Synacthen stimulation test, Baseline blood tests, 30-hour ambulatory sampling of intestinal fluid, Blood test | University of Bergen, Karolinska Institutet, Charite University, Berlin, Germany | Primary Adrenal Insufficiency | 12/25 | 12/25 | | |
NCT03875365: Institutional Outcome Data From Per-oral Plication of the Esophagus |
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| Terminated | N/A | 20 | US | POPE | Mayo Clinic | Achalasia | 01/24 | 01/24 | | |
NCT03962452: Mitochondrial Diseases - Long-read Genome and Transcriptome Sequencing in Cases Unresolved After Short-read Genomics |
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| Recruiting | N/A | 20 | Europe | Next Generation Sequencing (NGS) | University Hospital Tuebingen | Rare Diseases, Genetic Predisposition | 02/24 | 02/25 | | |
NCT05617209: In Vitro Correction of Thrombin Generation by Concizumab (Anti-TFPI) for Severe Hemophilia Patients |
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| Recruiting | N/A | 20 | Europe | thrombin generation measurement | Centre Hospitalier Universitaire de Saint Etienne | Hemophilia | 12/23 | 12/23 | | |
| Recruiting | N/A | 70 | Europe | | Universiteit Antwerpen, University Hospital, Antwerp | Tuberous Sclerosis, STXBP1 Encephalopathy With Epilepsy | 12/24 | 02/25 | | |
COMMAND, NCT05035823: Early Feasibility Study: Implantable BCI to Control a Digital Device for People With Paralysis |
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| Active, not recruiting | N/A | 6 | US | Motor Neuroprosthesis (MNP) | Synchron Medical, Inc. | Neurologic Disorder, Paralysis, Paralysis; Stroke, Amyotrophic Lateral Sclerosis, Muscular Dystrophies, Spinal Cord Injuries, Stroke, Lacunar, Stroke Brainstem, Cervical Spinal Cord Injury, Spinal Muscular Atrophy, Tetraplegic; Paralysis, Quadriplegia/Tetraplegia | 08/24 | 08/24 | | |
OMNISCIENT, NCT05414487: Effects of Ofatumumab Treatment on Immune Cells and Meningeal Lymphatic Drainage in Patients With Demyelinating Diseases |
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| Recruiting | N/A | 34 | RoW | Ofatumumab | Tianjin Medical University General Hospital | Multiple Sclerosis, Neuromyelitis Optica Spectrum Disorder, Demyelinating Diseases of the Central Nervous System | 12/23 | 06/24 | | |
NCT05948020: Efficacy and Safety of Orally Administered Engineered Probiotics (CBT102-A) for the Treatment of Children With Phenylketonuria |
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| Recruiting | N/A | 15 | RoW | CBT102-A capsule, Placebo capsule | Children's Hospital of Fudan University, Hedu Biotechnology (Shanghai) Co., LTD | Phenylketonuria | 12/23 | 03/24 | | |
| Recruiting | N/A | 100 | Europe | | University Hospital, Bordeaux | Achalasia | 01/24 | 01/24 | | |
NCT06131489: Segmental Resection Combined With DEP Regimen for EBV-HLH Patients With Intestinal Involvement |
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| Not yet recruiting | N/A | 20 | RoW | Segmental bowel resection combined with the DEP regimen | Beijing Friendship Hospital | Hemophagocytic Lymphohistiocytosis, Epstein-Barr Virus, Bowel Resection | 12/26 | 01/27 | | |
NCT06264466: Safety and Efficacy of a Novel Flexible Bipolar in POEM |
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| Recruiting | N/A | 73 | RoW | POEM with Speedboat Ultraslim | Instituto Ecuatoriano de Enfermedades Digestivas | Esophageal Achalasia | 12/24 | 01/25 | | |
NCT06178653: Two Different Treatment Modalities in Patients With Spinal Muscular Atrophy |
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| Active, not recruiting | N/A | 30 | RoW | Pulmonary Rehabilitation, Trunk Control Training | Istanbul Medipol University Hospital | Muscular Atrophy, Spinal | 07/24 | 12/24 | | |
NCT06175598: Analysis of the Causes of Redo Pull-through for Recurrent Constipation and the Risk Factors Affecting the Prognosis of the Hirschsprung's Disease and Allied Disorders |
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| Completed | N/A | 79 | RoW | | Feng Jiexiong | Surgery, Pediatric ALL | 12/23 | 12/23 | | |
NCT05810181: Gene Therapy Communication: Use of a Needs Assessment to Drive Decision-AIDS for Gene Therapy for Rare Diseases (GENETX) |
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| Recruiting | N/A | 70 | US | Interview | St. Jude Children's Research Hospital | Sickle Cell Disease | 12/25 | 12/26 | | |
NCT06167954: Safety and Usability of a Robotic Gait Device for Children and Adolescents With Neurological or Neuromuscular Disease in Their Natural Environment |
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| Recruiting | N/A | 50 | Europe | EXPLORER | MarsiBionics, Hospital Infantil Universitario Niño Jesús, Madrid, Spain, Hospital Universitario La Paz, Hospital Universitario 12 de Octubre, Hospital General Universitario Gregorio Marañon | Cerebral Palsy, Acquired Brain Injury, Spinal Muscular Atrophy | 03/24 | 03/24 | | |
HOGRID, NCT04768803: Ghrelin in Patients With a Rare Disease Associated With Intellectual Disability, and Hyperphagia, and/or Overweight, and/or Obesity |
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| Recruiting | N/A | 300 | Europe | acylated and unacylated ghrelin dosages | University Hospital, Toulouse | Angelman Syndrome, Smith-Magenis Syndrome, X Fragile Syndrome, Epilepsy, Prader-Willi Syndrome | 12/23 | 12/23 | | |
NCT05041608: Endoscopic Surgery for Gastrointestinal Disorders: A Multicenter Registry Study |
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| Enrolling by invitation | N/A | 5000 | US | Endoscopic Surgery | Advanced Endoscopy Research, Robert Wood Johnson Medical School Rutgers University | Achalasia, Gastric Outlet Obstruction, Gastroparesis, GERD, Reflux, Fistula, Benign Neoplasm | 12/23 | 12/24 | | |
SMArt, NCT06322654: A Head-to-head Study Comparing the Functional Value of Two Models of Robotically Assisted Rehabilitation in SMA (Spinal Muscular Atrophy) Patients |
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| Recruiting | N/A | 200 | Europe | Robotically Assisted Locomotion, Robotically Assisted Verticalization | Wiktor Dega University Orthopedic and Rehabilitation Hospital | SMA | 03/27 | 07/27 | | |
| Active, not recruiting | N/A | 27 | US | | Baylor College of Medicine | Gastroschisis | 12/24 | 12/24 | | |
NCT02234219: Comparison of Circular(Soave) and Heart-shaped Anastomosis in Hirschsprung's Disease: A Prospective Multicenter Randomized Controlled Trial |
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| Recruiting | N/A | 210 | RoW | Heart-shape anastomosis | Tongji Hospital | Constipation | 10/23 | 10/24 | | |
SAAVY, NCT04560933: A Study to Evaluate Seroprevalence and Seroconversion of Antibodies to Adeno-Associated Virus (AAV) in Patients With Hemophilia A |
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| Completed | N/A | 186 | US | Blood sample collection | BioMarin Pharmaceutical | Hemophilia A | 09/23 | 10/23 | | |
FACE, NCT05702476: Marfan Syndrome (MFS) and Facial Dysmorphism: Non-invasive 3D Assessment |
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| Recruiting | N/A | 140 | Europe | | IRCCS Policlinico S. Donato, University of Milan | Rare Diseases, Marfan Syndrome | 06/24 | 06/27 | | |
| Recruiting | N/A | 800 | Europe | Patient Registry | Newcastle University, Biogen, Roche Pharma AG, Adult SMA REACH, SMA REACH UK | Spinal Muscular Atrophy, SMA | 12/23 | 12/23 | | |
| Recruiting | N/A | 81 | RoW | Steroids, Dexamethasone, Etoposide | Samsung Medical Center | Hemophagocytic Lymphohistiocytoses | 12/23 | 12/24 | | |
NCT03399981: Tysabri Observational Cohort Study - Multiple Sclerosis (MS) Registries |
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| Completed | N/A | 80327 | US | Tysabri, Natalizumab BG00002 | Biogen | Progressive Multifocal Leukoencephalopathy | 12/23 | 12/23 | | |
| Recruiting | N/A | 30 | Europe | | Wuerzburg University Hospital, Charite University, Berlin, Germany, University Hospital Muenster, Health Care Center Dr. Markus Cybulla, Muellheim | Rare Diseases, Fabry Disease, Adherence, Medication, Quality of Life | 12/23 | 12/23 | | |
| Recruiting | N/A | 200 | | Nil | Beijing Anzhen Hospital, Capital Medical University; Beijing Anzhen Hospital, Capital Medical University, Projects supported by the national natural science foundation of China (81471098, 81670811, 81670314, 81873896) | sitosterolemia | | | | |
NCT04139343: Motor Unit Number Estimation (MUNE) in Adults With Spinal Muscular Atrophy (SMA) |
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| Active, not recruiting | N/A | 140 | US | | Ohio State University, Cure SMA | Spinal Muscular Atrophy | 12/24 | 12/24 | | |
NCT04713085: Sacral Neuromodulation in Children and Adolescents |
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| Recruiting | N/A | 30 | Europe | Invasive Sacral Neuromodulation, Non-invasive Sacral Neuromodulation | Friedrich-Alexander-Universität Erlangen-Nürnberg | Chronic Constipation With Overflow, Encopresis With Constipation and Overflow Incontinence, Hirschsprung's Disease, Anorectal Malformations, Sacral Dysgenesis | 12/24 | 12/24 | | |
| Active, not recruiting | N/A | 55 | Europe | POEM | Karolinska Institutet | Achalasia | 12/26 | 12/27 | | |
B-MORE, NCT03901755: An International Study to Evaluate the Real-world Effectiveness and Usage of Alprolix in Patients With Haemophilia B |
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| Active, not recruiting | N/A | 151 | Europe, RoW | Alprolix, Eftrenonacog alfa, rFIXFc | Swedish Orphan Biovitrum, Cerner Enviza | Hemophilia B | 07/24 | 07/24 | | |
| Recruiting | N/A | 80 | | Behcet病组 ;正常对照组 | Zunyi Medical University; Affiliated Hospital of Zunyi Medical University, Zunyi Medical University Outstanding Young Talents Program | Behcet's disease | | | | |
NCT04628364: The Natural History of Metachromatic Leukodystrophy Study (HOME Study) |
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| Active, not recruiting | N/A | 50 | US | | National Organization for Rare Disorders, Food and Drug Administration (FDA) | Metachromatic Leukodystrophy | 12/23 | 06/24 | | |
NCT04742387: Assessment of Bone Mineral Density in People Living With HIV and KSHV Associated Malignancies: A Retrospective Longitudinal Analysis |
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| Active, not recruiting | N/A | 40 | US | | National Cancer Institute (NCI) | Kaposi Sarcoma, KSHV Associated Multicentric Castleman Disease, Primary Effusion Lymphoma, IL-6 Related KSHV Associated Cytokine Syndrome | 12/24 | 12/24 | | |
ICIP, NCT04453917: Dynamics of T Cell Expression of Immune Checkpoint Molecules in Progressive Multifocal Leukoencephalopathy |
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| Recruiting | N/A | 15 | Europe | Collection of blood and urine, Spinal tap, Brain MRI, Neurological evaluation | University Hospital, Toulouse | Progressive Multifocal Leukoencephalopathy | 12/23 | 12/23 | | |
ChiCTR2100043674: Construction of an integrated whole-process management platform based on 'Internet plus' calcification defense |
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| Recruiting | N/A | 260 | | Calcalciphylaxis Systematic Solution ;Conservative treatment plan and routine hospital care plan | West China Hospital of Sichuan University; West China Hospital of Sichuan University, West China School of Nursing, Sichuan University | Calciphylaxis | | | | |
NCT04941898: A Study of TAK-660 in Surgical Procedures for People With Hemophilia A. |
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| Completed | N/A | 17 | Japan | PEGylated Recombinant Factor VIII, TAK-660, BAX855, ADYNOVATE | Takeda | Hemophilia A | 03/24 | 03/24 | | |
NCT05219487: Investigating NMJ Defects in SMA Following Central and Peripheral SMN Restoration |
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| Recruiting | N/A | 30 | US | Risdiplam, Evrysdi® | Bakri Elsheikh, Genentech, Inc. | Spinal Muscular Atrophy | 12/24 | 12/24 | | |
DigiNOA, NCT05109637: A Study to Assess the Clinical Validity of Konectom™ in Adults Living With Neuromuscular Disorders |
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| Completed | N/A | 93 | Europe | Konectom NMD Application | Biogen | Spinal Muscular Atrophy | 07/23 | 07/23 | | |
| Recruiting | N/A | 10 | RoW | POEM + F | Chinese University of Hong Kong | Achalasia | 12/23 | 06/24 | | |
| Active, not recruiting | N/A | 7 | Europe | PKU explore | Vitaflo International, Ltd | Phenylketonurias | 12/24 | 05/25 | | |
ChiCTR2200067244: Application of anorectal manometry in detection of stool control ability in children with Hirschsprung's disease after operation |
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| Recruiting | N/A | 44 | | None | Department of Pediatric Surgery, West China Hospital, Sichuan University; West China Hospital, Sichuan University, None | Hirschsprung's disease | | | | |
NCT05449548: Lenalidomide in the Treatment of Mucosal Behçet's Syndrome |
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| Recruiting | N/A | 42 | RoW | Lenalidomide 10 mg, Lenalidomide | Peking Union Medical College Hospital | Oral Ulcer | 12/24 | 03/25 | | |
NCT05840055: ACT With NMOSD Patients and Caregivers Pilot Study |
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| Recruiting | N/A | 50 | US | Acceptance and Commitment Therapy | Thomas Jefferson University, Alexion Pharmaceuticals, Inc. | NMO Spectrum Disorder | 06/24 | 09/24 | | |
ChiCTR2300075122: Assessing the Efficacy and safety of Ultrasound-Guided Intrathecal Injections of Nusinersen for Spinal Muscular Atrophy with Complex Spinal Deformities: A Retrospective Analysis |
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| Recruiting | N/A | 25 | | NA | Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology; Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology | spinal muscular atrophy | | | | |
NCT05827536: Open-label, Randomized, 2-way Crossover, Monocentric, Controlled Study to Evaluate the Effect on Daily PHE Fluctuation of PKU GOLIKE Versus SoC in Patients With PKU. |
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| Recruiting | N/A | 20 | Europe | PKU GOLIKE, Standard of Care | APR Applied Pharma Research s.a. | Phenylketonurias | 07/24 | 07/24 | | |
| Not yet recruiting | N/A | 30 | NA | Low calorie protein substitute | Nutricia UK Ltd | Phenylketonurias, Hyperphenylalaninaemia | 12/23 | 12/23 | | |
NCT05994950: A Review of the Management and Outcomes of Children With SMA in the West Midlands During 2017-2022 |
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| Recruiting | N/A | 30 | Europe | | Robert Jones and Agnes Hunt Orthopaedic and District NHS Trust, University Hospital Birmingham NHS Foundation Trust | Spinal Muscular Atrophy | 12/24 | 12/24 | | |
NCT02179359: Hematopoietic Stem Cell Transplant for High Risk Hemoglobinopathies |
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| Recruiting | N/A | 25 | US | Reduced Toxicity Ablative Regimen, Reduced Intensity Preparative Regimen, Myeloablative Preparative Regimen | Masonic Cancer Center, University of Minnesota | Sickle Cell Disease, Transfusion Dependent Alpha- or Beta- Thalassemia, Diamond Blackfan Anemia, Paroxysmal Nocturnal Hemoglobinuria, Glanzmann Thrombasthenia, Severe Congenital Neutropenia, Shwachman-Diamond Syndrome, Non-Malignant Hematologic Disorders | 01/25 | 08/25 | | |
| Recruiting | N/A | 148 | Canada, US | Observational study to examine safety, tolerability, and effectiveness of SPINRAZA® prescribed as part of standard of care, One time survey | Washington University School of Medicine | Spinal Muscular Atrophy, Spinal Muscular Atrophy Type II, Spinal Muscular Atrophy Type 3 | 12/24 | 01/25 | | |
BIOPSY, NCT05307419: Full Thickness vs. Rectal Suction Biopsy in the Diagnosis of Hirschsprungs Disease |
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| Recruiting | N/A | 300 | Europe | Rectal suction biopsy., Full-thickness rectal biopsy. | University of Southern Denmark, Odense University Hospital | Hirschsprung Disease | 01/24 | 02/24 | | |
| Recruiting | N/A | 40 | US | Heartfulness meditation | Ohio State University | Cyclic Vomiting Syndrome | 01/24 | 01/24 | | |
| Recruiting | N/A | 80 | Europe | Questionnaire | IRCCS Policlinico S. Donato | Rare Diseases, Pediatric Disorder | 03/24 | 12/24 | | |
AVNIR, NCT05712330: Exploratory Study of Respiratory Bacterial Infections or Superinfections and Colonizations in Patients With Spinal Muscular Atrophy Under NIV |
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| Recruiting | N/A | 8 | Europe | non invasive ventilation samples, patient samples, parent questionnaire | Centre Hospitalier Universitaire, Amiens | Non Invasive Ventilation, Spinal Muscular Atrophy, Respiratory Bacterial Infection | 01/24 | 09/24 | | |
NCT05904210: Retrospective Experience Assessing the Real-World Utilization and Effectiveness of SEVENFACT® |
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| Completed | N/A | 17 | US | SEVENFACT® | Laboratoire français de Fractionnement et de Biotechnologies | Hemophilia | 05/24 | 05/24 | | |
NCT06330350: Qualitative Study in Patients With Genodermatoses and Healthcare Professionals on Reproductive Counselling |
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| Recruiting | N/A | 25 | Europe | Qualitative interview | Maastricht University Medical Center | Quality of Life, Ichthyosis, Palmoplantar Keratoses, Epidermolysis Bullosa, Ectodermal Dysplasia, Basal Cell Nevus Syndrome, Birt-Hogg-Dube Syndrome, Tuberous Sclerosis, Cutis Laxa, Albinism | 08/25 | 12/25 | | |
NCT06435195: Clinical Characteristics and Analysis of Pituitary Complex and Rare Diseases |
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| Recruiting | N/A | 3000 | RoW | Surgical Removal, Biopsy | Peking Union Medical College Hospital | Pituitary Diseases | 09/26 | 12/26 | | |
| Enrolling by invitation | N/A | 650 | Europe | | Maastricht University Medical Center | Ichthyosis, Palmoplantar Keratoses, Epidermolysis Bullosa, Ectodermal Dysplasia, Basal Cell Nevus Syndrome, Birt-Hogg-Dube Syndrome, Tuberous Sclerosis, Xeroderma Pigmentosum, Cutis Laxa, Albinism | 09/26 | 09/26 | | |
| Active, not recruiting | N/A | 144 | Europe | Robotic Heller Myotomy, Peroral Endoscopic Myotomy | Germans Trias i Pujol Hospital | Achalasia Cardia | 01/26 | 01/27 | | |
| Recruiting | N/A | 2286 | Europe | High resolution mass spectrometry | Cliniques universitaires Saint-Luc- Université Catholique de Louvain | Inborn Errors of Metabolism, Rare Diseases | 01/28 | 01/28 | | |