| Rare Diseases |
| Not yet recruiting | N/A | 20 | RoW | Toripalimab Injection | Beijing Friendship Hospital | PD-1 Antibody, Mixed Chimerism | 01/23 | 05/23 | | |
| Completed | N/A | 361 | Europe | Desmopressin | Groupe Maladies hémorragiques de Bretagne | Carrier of Hemophilia A, Desmopressin, Factor VIII Deficiency | 01/23 | 04/23 | | |
| Recruiting | N/A | 60 | Europe | biological samples collection | University Hospital, Clermont-Ferrand | Behçet Disease, Physiopathology, Microbiota, Oral Microbiota | 01/23 | 01/24 | | |
| Recruiting | N/A | 50 | Europe | blood test, 11 DOC measurement | Istituto Auxologico Italiano | Adrenal Insufficiency | 10/24 | 12/24 | | |
NCT06419998: Transanal Versus Laparoscopic-assisted Transanal Through in the Management of Hirschsprung's Disease |
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| Completed | N/A | 70 | RoW | Group A: Pure transanal endorectal pull-through (TAERPT), Group B: Laparoscopic-assistance endorectal pull-through (LAERPT) | Egyptian Biomedical Research Network | Pediatric Disorder, Hirschprung's Disease | 12/23 | 12/23 | | |
| Completed | N/A | 176 | Europe | satisfaction survey | Hospices Civils de Lyon | Hemophilia A | 01/23 | 01/23 | | |
EchoSpin, NCT05644899: Ultrasound-assisted or Landmark-based Intrathecal Administration of Nusinersen in Adult Patients With Spinal Muscular Atrophy (The Study) |
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| Completed | N/A | 51 | Europe | Interlaminar ultrasound-assisted intrathecal administration of nusinersen, Landmark-based intrathecal administration of nusinersen | Fondazione Policlinico Universitario Agostino Gemelli IRCCS | Anesthesia, Spinal, Spinal Puncture Complications, Spinal Muscular Atrophy, Ultrasonography | 01/23 | 01/23 | | |
NusiMFM, NCT04602195: Responsiveness and Validation Study of MFM-32 in SMA Patients Treated With Nusinersen |
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| Completed | N/A | 33 | Europe | | Hospices Civils de Lyon | Spinal Muscular Atrophy | 11/23 | 11/23 | | |
NUSI-AD-5qSM, NCT04576494: Study of the Functional Effects of Nusinersen in 5q-spinal Muscular Amyotrophy Adults (SMA Type 2 or 3 Forms) |
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| Recruiting | N/A | 24 | Europe | Monthly assessments of functional motor abilities by a trained therapist, Nusinersen | CHU de Reims | Spinal Muscular Atrophy | 01/23 | 06/25 | | |
| Active, not recruiting | N/A | 19 | Europe | Glytactin, Glytactin Build 20 Flavours, Glytactin Ready To Drink (RTD) 15 Lite, Glytactin Build 10, L-AA | Ajinomoto Co., Inc., Birmingham Children's Hospital, Great Ormond Street Hospital for Children NHS Foundation Trust | Phenylketonurias | 01/25 | 04/25 | | |
| Completed | N/A | 12 | Europe | CGMP protein substitute, PKU Sphere, L-amino acid protein substitute | Vitaflo International, Ltd, Arla Foods | Phenylketonurias | 01/23 | 01/23 | | |
| Active, not recruiting | N/A | 30 | Europe | Inspiratory and expiratory muscle training at a therapeutic intensity, Inspiratory and expiratory muscle training at a non-therapeutic intensity | UMC Utrecht, Princess Beatrix Muscle Foundation | Spinal Muscular Atrophy | 01/23 | 01/23 | | |
ChiCTR2000030072: Multicenter, prospective, open-label clinical study of ICD (Ixazomib / cyclophosphamide / dexamethasone) regimen for newly diagnosed POEMS syndrome |
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| Recruiting | N/A | 20 | | ICD Regimen | Shanghai Changzheng Hospital; Shanghai Changzheng Hospital, Self-financing | POEMS syndrome | | | | |
| Recruiting | N/A | 250 | Europe | | PD Dr. Andreas Strauß, Bayer | Osteoporosis, Haemophilia, Bone Mass | 02/23 | 03/23 | | |
| Terminated | N/A | 7 | US | | Homology Medicines, Inc | Phenylketonurias, PKU | 02/23 | 08/23 | | |
| Completed | N/A | 1 | RoW | | Rehabilitation Centre Zivot | Susac Syndrome | 04/23 | 04/23 | | |
NCT05871658: Efficacy of Electroacupuncture in NMOSD Patients With Pain: Study Protocol |
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| Completed | N/A | 20 | RoW | electroacupuncture | Yuanqi Zhao,MD | Neuromyelitis Optica Spectrum Disorders, Pain | 02/23 | 02/23 | | |
| Completed | N/A | 39 | Europe | Observation | Azienda Ospedaliera Ospedale Infantile Regina Margherita Sant'Anna | Hemophagocytic Lymphohistiocytoses | 02/23 | 04/23 | | |
ChiCTR1800014979: A clinical trials of Rapamycin cream in the treatment of pagets disease |
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| Recruiting | N/A | 24 | | Topical rapamycin cream | Shanghai Skin Disease Hospital; Shanghai Skin Disease Hospital, NSFC81360236 | pagets disease | | | | |
Exigency, NCT04723680: An Exploration of the Impact of Gene Therapy on the Lives of People With Haemophilia and Their Families |
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| Completed | N/A | 69 | Europe | Qualitative interview | Haemnet, UniQure Biopharma B.V. | Hemophilia | 02/23 | 02/23 | | |
| Completed | N/A | 36 | RoW | Family education | Cukurova University | Phenylketonurias | 02/23 | 06/23 | | |
NCT05868538: Calprotectin and Ischemia Modified Albumin Serum to Measure Disease Activity in Behçet's Disease |
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| Completed | N/A | 60 | RoW | Serum calprotectin and IMA concentrations | Mansoura University | Behçet's Diseasecases | 03/23 | 03/23 | | |
| Completed | N/A | 102 | Canada | vitamin D | Christian Pagnoux | ANCA-associated Vasculitis, Granulomatosis With Polyangiitis, Microscopic Polyangiitis, Eosinophilic Granulomatosis With Polyangiitis | 03/23 | 03/23 | | |
APPEX, NCT05842486: Hematological Response in Patients With Paroxysmal Nocturnal Hemoglobinuria Treated With Anti-C5 Antibody: an External Control Arm Study for Iptacopan Use in Anti-C5 naïve Patients |
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| Completed | N/A | 92 | Europe | Anti-C5 antibody treatment | Assistance Publique - Hôpitaux de Paris, Leeds Cancer Centre at St. James's University Hospital | Paroxysmal Nocturnal Hemoglobinuria | 03/23 | 03/23 | | |
| Completed | N/A | 71 | Europe | | Nutricia Research | Phenylketonuria | 03/23 | 05/23 | | |
NCT04689360: An Intermediate Size Expanded Access Protocol of Elamipretide |
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| Available | N/A | | NA | elamipretide, MTP-131 | Stealth BioTherapeutics Inc. | Mitochondrial Diseases, Barth Syndrome | | | | |
THIRd, NCT04584892: Turoctocog Alfa in Haemophilic Italian Patients: Protection and Engagement in Recreational Activities |
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| Completed | N/A | 18 | Europe | Turoctocog alfa | Novo Nordisk A/S | Haemophilia A | 03/23 | 03/23 | | |
NCT03329365: Paroxysmal Nocturnal Hemoglobinuria in ESUS & ETUS |
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| Active, not recruiting | N/A | 200 | Canada | | Lawson Health Research Institute, Alexion Pharmaceuticals, Inc. | Paroxysmal Nocturnal Hemoglobinuria, Embolic Stroke of Undetermined Source, Transient Ischemic Attack, Cerebral Vein Thrombosis | 03/23 | 03/24 | | |
| Completed | N/A | 135 | Japan | ADYNOVATE, BAX 855, BAX855, Recombinant Factor VIII (FVIII) PEGylated | Takeda, Takeda | Hemophilia A | 09/23 | 09/23 | | |
| Recruiting | N/A | 48 | Europe | | Prof. Dr. Dr. Thomas Hilberg | Hemophilia A | 03/23 | 04/23 | | |
DiRiP-RD, NCT03491280: Diagnostic Research in Patients With Rare Diseases - Solving the Unsolved Rare Diseases |
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| Recruiting | N/A | 5500 | Europe | NGS Diagnostic, Omics Technology | University Hospital Tuebingen | Rare Diseases, Genetic Predisposition | 04/23 | 04/25 | | |
EXGEFATU, NCT04731857: Diagnostic Value of Exome/ Genome Sequencing, Conventional Methods in Rare Diseases and Familial Tumor Syndromes |
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| Recruiting | N/A | 12000 | Europe | Retrospective data analysis | University Hospital Tuebingen | Rare Diseases, Genetic Predisposition | 02/24 | 02/25 | | |
| Terminated | N/A | 5 | Europe | Therapeutic exercise, Usual physical therapy care | University of Seville | Hemophilia | 04/23 | 04/23 | | |
NCT05293353: Neokare Safety and Tolerability Assessment in Neonates With GI Problems |
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| Recruiting | N/A | 50 | Europe | NeoKare Breast Milk Fortifier | University Hospital Southampton NHS Foundation Trust, University of Southampton, NeoKare Nutrition Ltd | NEC, Gastroschisis, Intestinal Perforation, Atresia, Intestinal, Hirschsprung Disease, Exomphalos, Volvulus, Anorectal Malformations, Meconium Ileus, Cows Milk Allergy, Preterm | 04/23 | 06/23 | | |
| Completed | N/A | 40 | Europe | | Central Hospital, Nancy, France | Antisynthetase Syndrome | 04/23 | 04/23 | | |
MARS, NCT04551989: Mepolizumab Long-term Study to Assess Real World Safety and Effectiveness of Eosinophilic Granulomatosis With Polyangiitis (EGPA) in Japan |
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| Active, not recruiting | N/A | 120 | Japan | | GlaxoSmithKline | Churg-Strauss Syndrome | 04/23 | 04/23 | | |
HAPKIDO, NCT04953000: A Study of Standard and Individualized Prophylactic Treatment With Advate in Men and Boys With Severe Hemophilia A |
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| Completed | N/A | 94 | RoW | | Takeda | Hemophilia A | 04/23 | 04/23 | | |
NCT05217992: Are There Differences Between Carriers of Haemophilia A and B? |
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| Completed | N/A | 900 | Europe | Genetic assessment (hemophilia testing) | Cliniques universitaires Saint-Luc- Université Catholique de Louvain | Hemophilia | 04/23 | 04/23 | | |
NCT03962335: Gut Microbiota and Behcet's Syndrome: a Dietary Intervention Trial (MAMBA Study) |
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| Completed | N/A | 90 | Europe | Vegetarian diet, VD, Mediterranean diet with butyrate, MD+Bt, Mediterranean diet, MD | Azienda Ospedaliero-Universitaria Careggi | Behcet Syndrome | 05/23 | 05/23 | | |
NCT03689660: Feasibility of Virtual Reality in Children With Neuromuscular Disease, Effectiveness of Virtual Reality and Biofeedback |
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| Recruiting | N/A | 24 | RoW | Virtual Reality Training, Biofeedback Training, Conventional rehabilitation | Merve Kurt | Neuromuscular Disease, Duchenne Muscular Dystrophy, Spinal Muscular Atrophy, Virtual Reality, Biofeedback | 05/23 | 10/23 | | |
ChiCTR2000032421: Study on prognosis and prediction model of adult hemophagocytic lymphohistiocytosis |
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| Recruiting | N/A | 300 | | N/A | The First Affiliated Hospital of Nanjing Medical University, Jiangsu Province Hospital; The First Affiliated Hospital of Nanjing Medical University, Jiangsu Province Hospital, self-raised funds | Hemophagocytic lymphohistiocytosis | | | | |
NCT03876301: Lead-in Study to Collect Prospective Efficacy and Safety Data of Current FVIII Prophylaxis Replacement Therapy in Adult Hemophilia A Participants |
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| Completed | N/A | 25 | Canada, US, RoW | Standard of Care FVIII Replacement therapy | Spark Therapeutics | Blood Coagulation Disorder, Blood Coagulation Disorders, Inherited, Coagulation Protein Disorders, Hemophilia A, Genetic Diseases, Inborn, Genetic Diseases, X-Linked, Hematologic Diseases, Hemorrhagic Disorders, Factor VIII Deficiency | 05/23 | 05/23 | | |
NCT05754619: Emotions in the Communication and Relationship Styles of Parents With Hemophilic Children. |
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| Recruiting | N/A | 10 | Europe | | Fondazione Policlinico Universitario Agostino Gemelli IRCCS | Hemophilia A | 05/23 | 05/23 | | |
| Recruiting | N/A | 200 | Europe | Questionnaires, clinical scales and instrumental tests | Istituto Auxologico Italiano, IRCCS Istituto Neurologico Carlo Besta | Multiple Sclerosis, Parkinson Disease, Peripheral Neuropathy, Rare Diseases, Healthy, Healthy Aging | 05/27 | 05/27 | | |
| Active, not recruiting | N/A | 48 | US | FAmily CEntered (FACE) pACP Intervention, FACE-Rare Intervention | Children's National Research Institute, Respecting Choices, National Institutes of Health (NIH), National Institute of Nursing Research (NINR) | Rare Diseases | 12/23 | 12/24 | | |
NCT03914716: Imaging of Arthropathy in Boys With Hemophilia in China |
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| Completed | N/A | 49 | RoW | Study group | Andrea Doria, Beijing Children's Hospital, Baxalta US Inc. | Hemophilia | 02/22 | 11/23 | | |
CHROnOS, NCT04374721: Clinical Study on Circadian Genes Dysregulation in Patients With Glucocorticoid Disorders |
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| Recruiting | N/A | 44 | Europe | circadian gene expression evaluation | University of Roma La Sapienza | Cushing Syndrome, Adrenal Insufficiency, Cushing Disease, Addison Disease | 06/23 | 12/23 | | |
Es-Alert, NCT04335942: Characterization of the Postural Habits of Wheelchair Users Analysis of the Acceptability of International Recommendations in the Prevention of Pressure Sores Risk by Using a Connected Textile Sensor |
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| Completed | N/A | 36 | Europe | Alert "AFNOR 3.6"., Alertes " AFNOR 3.6 " et alertes " Guidelines ". | Assistance Publique - Hôpitaux de Paris | Duchenne Muscular Dystrophy, Spinal Muscular Atrophy | 06/23 | 06/23 | | |
NCT06451575: Thrombophilia and Thrombosis in Behçet's Disease |
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| Recruiting | N/A | 200 | RoW | Blood collection | Ataturk University | Behçet Disease | 09/24 | 09/24 | | |
| Available | N/A | | NA | Iptacopan, LNP023 | Novartis Pharmaceuticals | C3 Glomerulopathy (C3G), Paroxysmal Nocturnal Hemoglobinuria (PNH) | | | | |
NCT03626350: Prospective Evaluation of the Efficacy and Safety of Submucosal Endoscopy |
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| Active, not recruiting | N/A | 250 | US | | University of Colorado, Denver | Gastrointestinal Neoplasia, Hirschsprung's Disease, Esophageal Obstruction, Gastroparesis, Spastic Esophageal Disorders, Zenker's Diverticulum | 06/25 | 06/25 | | |
NCT06191354: A Clinical Study Evaluating the Safety and Efficacy of SKG0201 Injection in Patients With Spinal Muscular Atrophy Type 1 |
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| Recruiting | N/A | 12 | RoW | SKG0201 Injection, SKG0201 | Kun Sun | Spinal Muscular Atrophy 1 | 06/25 | 12/25 | | |
SONICS, NCT03942952: PEDIATRIC Pediatric Study of Neuropsychology and Imaging in CNS Demyelinating Syndromes. |
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| Completed | N/A | 49 | US | | University of Texas Southwestern Medical Center | Multiple Sclerosis, Relapsing-Remitting, Neuromyelitis Optica, Acute Disseminated Encephalomyelitis, Transverse Myelitis | 06/23 | 06/23 | | |
ChiCTR2100051105: Correlation between IMPDH and SLCO1B polymorphisms and the efficacy and safety of mycophenolate mofetil in patients with neuromyelitis optica spectrum disorders |
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| Recruiting | N/A | 200 | | MMF treatment | Huashan Hospital, Fudan University; Huashan Hospital, Fudan University, National Science Foundation for Youth Scientists of China (Grant No. 81703613) | Neuromyelitis optica spectrum disorders (NMOSD) | | | | |
SENIORHEMO, NCT05218772: Objective and Perceived Health Status of Elderly People With Moderate or Severe Haemophilia in France: an Ancillary Study of the FranceCoag Registry |
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| Recruiting | N/A | 612 | Europe | Questionnaires | Assistance Publique Hopitaux De Marseille | Moderate or Serious Haemophilia | 06/23 | 12/23 | | |
NCT05409079: Schulze Muscular Dystrophy Ability Clinical Study |
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| Recruiting | N/A | 35 | US | Abilitech Assist | AbiliTech Medical Inc., Richard M. Schulze Family Foundation | Muscular Dystrophies, Spinal Muscular Atrophy, Duchenne Muscular Dystrophy, Limb Girdle Muscular Dystrophy, FSHD, Cerebral Palsy, Becker Muscular Dystrophy | 06/23 | 06/23 | | |
ChiCTR2300073620: Application of AI-assisted endoscopic diagnosis system for intestinal ulcerative diseases |
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| Recruiting | N/A | | | | The Affiliated Hospital of Qingdao University; The Affiliated Hospital of Qingdao University, the National Natural Science Foundation of China (No. 82270676) | Crohn's disease, ulcerative colitis, intestinal tuberculosis, colon Behcet's disease, and intestinal lymphoma | | | | |
ChiCTR2300072561: Clinical characteristics and anaesthetic management of severe scoliosis patients with spinal muscular atrophy |
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| Recruiting | N/A | 26 | | None | Xinhua Hospital, Shanghai Jiao Tong University School of Medicine; Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai Municipal Health Commission | scoliosis | | | | |
NCT05137522: Chidamide Combines With VP-16 and Methylprednisolone in the Treatment of HLH |
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| Recruiting | N/A | 20 | RoW | Chidamide combines with VP-16 and methylprednisolone | Beijing Friendship Hospital | Chidamide, Hemophagocytic Lymphohistiocytosis | 07/23 | 07/23 | | |
ChiCTR2300074346: The predictive role of serum albumin in the treatment of acute stage of optic nerve Myelitis spectrum diseases |
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| Completed | N/A | 86 | | NONE ;NONE | Renji Hospital, School of Medicine, Shanghai Jiao Tong University; Renji Hospital, School of Medicine, Shanghai Jiao Tong University, NONE | Neuromyelitis Optica Spectrum Disorders | | | | |
RDIH-01, NCT05476458: To Evaluate Efficacy of Red Dichromatic Imaging (RDI) in Achieving Hemostasis During POEM Using GF 1500 UGI Scope |
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| Recruiting | N/A | 100 | RoW | White Light Imaging, Red Light Imaging | Asian Institute of Gastroenterology, India | POEMS Syndrome, Hemostatic Disorder | 07/23 | 07/23 | | |
SMOB, NCT04690998: Outcome Measures and Biomarkers in a Cohort of Spinal Muscular Atrophy Type III/ IV Patients |
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| Recruiting | N/A | 100 | Europe | Blood Samples, MRI | Assistance Publique Hopitaux De Marseille | Spinal Muscular Atrophy | 07/23 | 07/25 | | |
NCT05039008: Restricting Blood Flow in Improving Muscle Strength in Patients With Hemophilic Arthropathy |
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| Completed | N/A | 23 | Europe | Blood flow restriction | Investigación en Hemofilia y Fisioterapia | Hemophilia | 11/23 | 12/23 | | |
NCT04052581: Prospective Collection of Outcome Data Post POEM-TIF Procedure |
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| Withdrawn | N/A | 20 | NA | POEM-TIF | Johns Hopkins University, Northwell Health | Achalasia, Gastroesophageal Reflux Disease | 07/23 | 07/23 | | |
NCT05829473: The Effect of Guided Imagery and Diaphragmatic Breathing Exercise in Pregnant Women With Hyperemesis Gravidarum |
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| Not yet recruiting | N/A | 180 | NA | Breathing Exercise Group, Guided Imagery Group | Gaziantep Islam Science and Technology University | Hyperemesis Gravidarum | 07/23 | 08/23 | | |
NCT05174559: Additional Dietary Large Neutral Amino Acids (LNAA) for Improved Symptoms in Adult Classical Phenylktonuria (PKU) |
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| Active, not recruiting | N/A | 10 | US | PreKUnil® LNAA Medical Food for PKU | University of Southern California, National PKU Alliance | Phenylketonurias | 07/24 | 07/24 | | |
| Available | N/A | | NA | Danicopan, ALXN2040 | Alexion Pharmaceuticals, Inc. | Paroxysmal Nocturnal Hemoglobinuria, PNH, Extravascular Hemolysis | | | | |
ChiCTR1800017267: HLH-2018 Protocol of Chinese Children’s Histiocytic Group (CCHG-HLH-2018) |
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| Not yet recruiting | N/A | 500 | | CCHG-HLH-2018 regimen | Beijing Children's Hospital Medical, Capital Medical University, National Center for Children's Health; Beijing Children’s Hospital Medical, Capital Medical University, National Center for Children’s Health, China, XTZD20180202 | hemophagocytic lymphohistiocytosis | | | | |
| Recruiting | N/A | 79 | Europe | Flexible Endoscopic Evaluation of Swallowing | University of Giessen | Spinal Muscular Atrophy | 04/24 | 04/24 | | |
NCT05284175: A Study of Orelabrutinib in Patients With AQP4-IgG Positive Neuromyelitis Optica Spectrum Disorder |
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| Not yet recruiting | N/A | 23 | RoW | Orelabrutinib | Peking Union Medical College Hospital, Beijing InnoCare Pharma Tech Co., Ltd., GCP ClinPlus Co., Ltd. | Neuromyelitis Optica Spectrum Disorder | 08/23 | 08/23 | | |
| Recruiting | N/A | 600 | Europe | | Great Ormond Street Hospital for Children NHS Foundation Trust | Spinal Muscular Atrophy | 08/23 | 08/23 | | |
NCT05981313: Viscoelastic Properties of Lower Extremity Muscles in Patients With Hemophilia |
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| Not yet recruiting | N/A | 40 | RoW | | Hasan Kalyoncu University | Hemophilia, Hemophilia A, Hemophilia B | 08/23 | 12/23 | | |
NCT05461924: The Long Term Outcomes After Pull-through of Long Segment Hirschsprung Disease |
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| Recruiting | N/A | 50 | RoW | questionnaire survey | Weibing Tang | Constipation, Incontinence, Hirschsprung Disease, Long-Segment, Long Term Adverse Effects | 08/23 | 08/23 | | |
NCT05655845: Risk Factors for Bowel Dysfunction at Preschool and Early Childhood Age in Children With Hirschsprung Disease |
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| Recruiting | N/A | 300 | RoW | bowel function score(BFS) questionnaire survey | Weibing Tang | Bowel Dysfunction, Hirschsprung Disease, Risk Factor, Incontinence, Constipation | 08/23 | 08/23 | | |
NCT05889754: Reliability and Validity of the Turkish Version of the PedHAL |
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| Not yet recruiting | N/A | 50 | RoW | | Hasan Kalyoncu University | Hemophilia, Hemophilia A, Severe, Hemophilia B | 08/23 | 12/23 | | |
NCT06028594: Compassionate Use of Pozelimab and Cemdisiran Combination Therapy in Patients With Paroxysmal Nocturnal Hemoglobinuria |
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| Available | N/A | | NA | Pozelimab, REGN3918, Cemdisiran, ALN-CC5 | Regeneron Pharmaceuticals | Paroxysmal Nocturnal Hemoglobinuria | | | | |
NCT04193085: Wearable Technology to Assess Gait Function in SMA and DMD |
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| Completed | N/A | 39 | US | | Columbia University, Muscular Dystrophy Association, Stevens Institute of Technology | Spinal Muscular Atrophy Type 3, Duchenne Muscular Dystrophy | 08/23 | 08/23 | | |
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 | | |
