| Rare Diseases |
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 | 05/24 | 05/24 | | |
| 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 | | |
NCT06368076: High-intensity Interval Training in Patients With Spinal Muscular Atrophy |
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| Recruiting | N/A | 20 | Europe | Exercise | Rigshospitalet, Denmark | Spinal Muscular Atrophy | 08/24 | 01/25 | | |
OU-HEM-LE-01, NCT06266819: The Effect of Mint Flavored Chewing Gum on Hyperemesis Gravidarum Nausea Vomiting Severity, Coping With Stress and Anxiety Level in Pregnants With Hyperemesis Gravidarum |
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| Recruiting | N/A | 78 | RoW | chewing gum | T.C. ORDU ÜNİVERSİTESİ | Hyperemesis Gravidarum | 06/24 | 07/24 | | |
NCT06266247: How Sirtuin Levels Change During Behçet Disease |
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| Active, not recruiting | N/A | 60 | RoW | Take blood samples | Karamanoğlu Mehmetbey University | Behçet Disease, Inflammation, Vasculitis | 06/24 | 10/24 | | |
| Completed | N/A | 951 | Europe, Canada, RoW | ADVATE, octocog alfa, rAHF-PFM, ADYNOVI, rurioctocog alfa pegol, rAHF-PEG | Baxalta now part of Shire, Baxalta Innovations GmbH, now part of Shire | Hemophilia A | 01/24 | 01/24 | | |
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| Enrolling by invitation | N/A | 1 | Canada | Fluoxetine | Holland Bloorview Kids Rehabilitation Hospital, The Hospital for Sick Children | KCNC1 Related Disorder, Genetic Disease, Rare Diseases | 12/24 | 12/25 | | |
NCT06305234: A Long Term, Post-marketing Study of Immune Response in Patients Receiving Palynziq Treatment for PKU (PALisade) |
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| Recruiting | N/A | 200 | US | Pegvaliase | BioMarin Pharmaceutical | Phenylketonuria (PKU) | 11/33 | 11/33 | | |
NCT06222697: A Study to Learn More About the Safety of Damoctocog-alfa-pegol When Used in Routine Medical Care in Korean Participants With Hemophilia A |
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| Recruiting | N/A | 600 | RoW | Damoctocog-alfa-pegol (Jivi, BAY94-9027) | Bayer | Hemophilia A, Prophylaxis of Bleeding, Treatment of Bleeding | 03/26 | 06/26 | | |
NCT03824522: Post Marketing Surveillance Study for ADYNOVATE in South Korea |
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| Completed | N/A | 341 | RoW | ADYNOVATE, PEGylated rFVIII | Takeda, Takeda Pharma Korea Co. Ltd. | Hemophilia A | 01/24 | 01/24 | | |
NCT03593252: Bowel Preparation in Elective Pediatric Colorectal Surgery |
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| Not yet recruiting | N/A | 81 | NA | Senna, Senokot, Sodium Picosulfate, Magnesium Oxide and Citric Acid, Pico-Salax, Metronidazole Oral, flagyl, Neomycin, Cefazolin, ancef, Metronidazole, Flagyl, Nil per os, NPO, Clear fluids the day before surgery | McMaster University, McMaster Pediatric Surgery Rresearch Collaborative (MPSRC) | Colostomy, Hirschsprung Disease - Pull Through, Necrotizing Enterocolitis, Inflammatory Bowel Diseases, Meconium Ileus, Bowel Obstruction, Elective Surgery | 01/24 | 01/24 | | |
NCT05187260: Antisense Oligonucleotide for Spinal Muscular Atrophy |
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| Recruiting | N/A | 1000 | RoW | Nusinersen | First Affiliated Hospital of Fujian Medical University, Fujian Medical University Union Hospital, Peking Union Medical College Hospital | Spinal Muscular Atrophy | 01/24 | 01/24 | | |
NCT03047746: Unrelated And Partially Matched Related Donor PSCT w/ T Cell Receptor (TCR) αβ Depletion for Patients With BMF |
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| Recruiting | N/A | 50 | US | CliniMACs | Children's Hospital of Philadelphia | Acquired Aplastic Anemia, Paroxysmal Nocturnal Hemoglobinuria, Inherited Bone Marrow Failure Syndromes | 03/25 | 03/26 | | |
| Completed | N/A | 100 | US | | Mayo Clinic, Alexion Pharmaceuticals, Inc. | Neuromyelitis Optica, NMO Spectrum Disorder | 04/24 | 04/24 | | |
NCT04629274: In Vitro Study of the Biological and Immunological Activity of Imotopes® Candidates on Blood Cells of Patients With Stabilized NMO |
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| Completed | N/A | 15 | Europe | Blood sampling | Imcyse SA | Neuromyelitis Optica | 06/24 | 06/24 | | |
| Recruiting | N/A | 100 | Europe | | University Hospital, Lille, Groupement Interrégional de Recherche Clinique et d'Innovation | Hemophilia A | 02/24 | 02/24 | | |
| Recruiting | N/A | 50 | Europe | Ex-vivo approach concerning 25 patients, In-vitro approach concerning 25 patients | University Hospital, Bordeaux | Intellectual Disability, Rubinstein-Taybi Syndrome, Cystic Fibrosis, Congenital Heart Defect, Periventricular Nodular Heterotopia, Neurodegeneration With Brain Iron Accumulation (NBIA), Albinism | 02/25 | 02/25 | | |
| Recruiting | N/A | 250 | Europe | Pulsotonometry | IRCCS Policlinico S. Donato, Istituto Auxologico Italiano | Rare Diseases, Aortic Stiffness, Connective Tissue Defect | 02/24 | 09/24 | | |
MARIMPACH, NCT06230536: : Contribution of High-resolution Manometry With Impedancemetry for the Evaluation of Esophageal Clearance in Achalasia |
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| Not yet recruiting | N/A | 100 | NA | | University Hospital, Bordeaux | Esophageal Achalasia | 03/28 | 12/28 | | |
NCT06194539: Assessing the Fertility Status of Men With Spinal Muscular Atrophy (SMA) |
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| Recruiting | N/A | 75 | US | | Bar-Chama, Natan, M.D. | Fertility Issues | 02/26 | 07/26 | | |
| Recruiting | N/A | 400 | Canada | Patient-specific treatments | University Health Network, Toronto | Advanced Cancer, Rare Diseases | 02/27 | 02/29 | | |
NCT04640753: Peroral Endoscopic Myotomy for the Treatment of Achalasia |
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| Recruiting | N/A | 200 | US | Endoscopic procedure for achalasia | Methodist Health System | Achalasia | 02/24 | 02/24 | | |
NCT06298448: eGPA and Local Inflammation Within the Ear, Nose and Throat Area |
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| Recruiting | N/A | 150 | Europe | laboratory experiments before and after mepolizumab treatment | University Medical Center Groningen, GlaxoSmithKline | EGPA - Eosinophilic Granulomatosis With Polyangiitis | 12/27 | 12/28 | | |
NCT06261632: Blood Flow Restriction in Improving Muscle Strength of Patients With Hemophilic Knee Arthropathy |
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| Active, not recruiting | N/A | 40 | Europe | Blood flow restriction | Investigación en Hemofilia y Fisioterapia | Hemophilia | 07/24 | 11/24 | | |
NCT06271395: Ultrasound-guided Botulinum Toxin Injection on Cricopharyngeal Muscle Dysfunction |
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| Recruiting | N/A | 30 | RoW | Injectable Type A Botulinum Toxin, Botulinum Toxin Injection | Zeng Changhao | Cricopharyngeal Achalasia | 10/24 | 10/24 | | |
