Rare Diseases 
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1406 Trials

   

Trial + Data / EventsStatusPhNRegionInterventionsSponsorConditionsPrimary complStudy compl
Rare Diseases
AIM-Active, NCT04845555: Association Between Individual Clotting Factor Level Monitoring and the Risk of Bleeding Whilst Physical Active Conditions

Recruiting
N/A
30
Europe
Observation of the association between clotting factor level and risk of bleeding whilst physical activity
Prof. Dr. Dr. Thomas Hilberg, Takeda, University of Bonn
Hemophilia A
12/22
12/22
NCT04210206: Short-term Effects of Good Metabolic Control on Cognitive Function, Wellbeing, and Metabolic Parameters in Adult Patients With Phenylketonuria

Terminated
N/A
13
Europe
PHE-diet
Klaus Parhofer
Phenylketonurias
08/23
08/23
NCT04055051: ATHN 11: Liver Transplantation Outcomes Study

Completed
N/A
86
US
American Thrombosis and Hemostasis Network, BioMarin Pharmaceutical
Hemophilia A and B, Liver Transplantation
12/22
12/22
rWGS_v3, NCT05337462: Pilot Study of Rapid Whole Genome Sequencing of Severely Ill Patients in Pediatric Intensive Care in Belgium

Recruiting
N/A
30
Europe
Centre Hospitalier Universitaire de Liege
Rare Diseases
12/22
12/22
NCT06331091: Physiotherapy and Reaction Time in Hemophilia

Completed
N/A
21
RoW
Home exercise, Manual therapy, Neuromuscular electrical stimulation, Supervised exercise
Yuzuncu Yıl University
Hemophilia Arthropathy
01/24
01/24
PANDA, NCT04086511: PKU Amino Acid Evaluation

Completed
N/A
37
Europe
Nutricia Research
Phenylketonuria (PKU)
12/22
04/23
NCT03006965: Pharmacokinetic Characterization of the Hemophilia A Population in Spain Using myPKFiT®

Completed
N/A
50
Europe
octocog alfa, Advate®, recombinant intravenous factor VIII, rurioctocog alfa pegol
Spanish Society of Thrombosis and Haemostasis, Takeda, Instituto de Investigación Hospital Universitario La Paz
Hemophilia A, Hemophilia, Factor VIII Deficiency
12/22
12/22
NAP, NCT04671810: Prospective Observational Study of Long-term Pathogenic Treatment of Elizaria®

Completed
N/A
44
RoW
Elizaria®, Eculizumab
AO GENERIUM
Paroxysmal Nocturnal Hemoglobinuria
12/22
05/23
ChiCTR-INR-16008037: Treatment of hUC-MSC for neuromyelitis optica spectrum disorder- A prospective multicenter randomized controlled study

Not yet recruiting
N/A
480
 
regular drug treatment plus hUC-MSC ;regular drug treatment plus placebo
Ren Ji Hospital, School of Medicine, Shanghai Jiao Tong University; Ren Ji Hospital, School of Medicine, Shanghai Jiao Tong University, Found from multi-center clinical trial of School of Medicine, Shanghai Jiao Tong University
neuromyelitis optica spectrum disorder
 
 
NCT03380819: The VetSeq Study: a Pilot Study of Genome Sequencing in Veteran Care

Completed
N/A
2
US
Genome sequencing
VA Boston Healthcare System
Rare Diseases, Genetic Disease
12/22
12/22
NCT04646850: Long-term Treatment With the Ketogenic Diet in Epilepsy

Active, not recruiting
N/A
30
Europe
Color duplex ultrasound of the carotid arteries
Oslo University Hospital
Epilepsy, GLUT1DS1, PDH Deficiency
12/22
12/25
NCT03856203: Nutrition Status of Adults With PKU Before and During Treatment With Pegvaliase

Completed
N/A
12
US
Boston Children's Hospital, BioMarin Pharmaceutical
Phenylketonurias
12/22
10/23
ChiCTR2200061770: Effect of Cold Liquids compensated swallowing combined with balloon dilation in the treatment of cricopharyngeal achalasia:a Pilot Randomized Controll

Completed
N/A
36
 
catheter balloon dilation combined with cold liquids compensated swallowing ;catheter balloon dilation
Hangzhou Sanatorium of the PLA; Hangzhou Sanatorium of the PLA, Zhejiang Medicine Health Science and Technology Project
cricopharyngeal achalasia
 
 
ChiCTR2200061530: An electronic medical records system-based study for the investigation on the prevalence of congenital craniofacial and oral malformations in China

Completed
N/A
10000
 
No
The Third Affiliated Hospital of the Air Force Military Medical University; The Third Affiliated Hospital of the Air Force Military Medical University, Key Project of National Oral Diseases Clinical Medicine Research Center (LCA202013)
Oral genetic diseases and rare diseases
 
 
NCT05517070: Vitamin D Deficiency and Body Composition in the Patients With Hemophilia

Recruiting
N/A
80
RoW
Tsung-Ying Li
Vitamin D Deficiency, Sarcopenia, Osteoporosis, Body Composition, Hemophilic Arthropathy, Hemophilia
12/22
02/23
RHEO-CUA, NCT05633121: Retrospective Study Evaluating the Contribution of Rheopheresis in the Treatment of Uremic Calciphylaxis

Completed
N/A
55
Europe
Rheopheresis
Association ECHO, European Clinical Trial Experts Network, Elsan
Rheopheresis, Calcifying Uremic Arteriolopathy, Uremic Calciphylaxis
12/22
09/23
ChiCTR2100050700: A visualization-based method for rapid differential diagnosis of rare diseases in neonates

Recruiting
N/A
 
The Children's Hospital, Zhejiang University School of Medicine; The Children's Hospital, Zhejiang University School of Medicine, NSFC and matched research funding
Rare disease
 
 
NCT05070286: Lifestyle Weight Management Program: Interviews and Stakeholder Meetings.

Recruiting
N/A
45
Europe
Observational Study.
Oxford Brookes University, Great Ormond Street Hospital for Children NHS Foundation Trust, Guy's and St Thomas' NHS Foundation Trust, Oxford University Hospitals NHS Trust
Multiple Sclerosis, Neuromyelitis Optica
12/22
12/22
ChiCTR2200066921: The application of molecular imaging for the assessment of neuroinflammation in patients with NMOSD and MOG-AD

Recruiting
N/A
 
Renji Hospital, School of Medicine, Shanghai Jiao Tong University; Renji Hospital, School of Medicine, Shanghai Jiao Tong University, Renji-United Imaging 2021 Clinical Research Innovation Incubation Project
Neuromyelitis Optica Spectrum Disorders and Myelin oligodendrocyte glycoprotein antibody disease
 
 
ChiCTR2200061315: Diagnostic and prognostic analysis of haemophagocytic lymphohistiocytic hyperplasia (HLH) in children: a cohort study

Not yet recruiting
N/A
500
 
none ;none
Children's Hospital affiliated to Chongqing Medical University; Children's Hospital affiliated to Chongqing Medical University, 2022 Research Projects of Chongqing Municipal Health and Family Planning Commission (2022WSJK005)
hemophagocytic lymphohistiocytosis
 
 
MoleMed, NCT04353050: Atypical MOLes and Melanoma Early Detection Study

Recruiting
N/A
350
RoW
Non-invasive adhesive system (patch)
Russian Academy of Medical Sciences, Blokhin's Russian Cancer Research Center
Melanoma, Melanoma (Skin), Moles, Nevus, Nevus, Blue, Nevus, Pigmented, Nevus, Spitz, Nevi, Spindle Cell, Nevi, Dysplastic, Dysplastic Nevus Syndrome, Mucosal Melanoma, Mucosal Melanosis
01/23
11/23
NCT05164978: DEP Combine With PD-1 Antibody as an Treatment for EBV-HLH

Recruiting
N/A
20
RoW
DEP combine with PD-1 antibody, DEP+PD-1
Beijing Friendship Hospital
Hemophagocytic Lymphohistiocytosis
01/23
01/23
ChiCTR2100047736: A prospective study on the prediction model of esophageal submucosal adhesion grade in the patients with achalasia

Not yet recruiting
N/A
250
 
No
Chinese PLA General Hospital; Chinese PLA General Hospital, Chinese PLA General Hospital
Achalasia Cardia
 
 
HLH, NCT04944511: PD-1 Antibody Improve Mixed Chimerism

Not yet recruiting
N/A
20
RoW
Toripalimab Injection
Beijing Friendship Hospital
PD-1 Antibody, Mixed Chimerism
01/23
05/23
GIDEHAC, NCT06020456: Genetic Factors of the Desmopressin Response in Carriers of Hemophilia A

Completed
N/A
361
Europe
Desmopressin
Groupe Maladies hémorragiques de Bretagne
Carrier of Hemophilia A, Desmopressin, Factor VIII Deficiency
01/23
04/23
BEHCETBIOT, NCT04959435: Understanding the Role of Oral Microbiota in Behçet's Disease

Recruiting
N/A
60
Europe
biological samples collection
University Hospital, Clermont-Ferrand
Behçet Disease, Physiopathology, Microbiota, Oral Microbiota
01/23
01/24
ADD-RES, NCT06309498: Residual Adrenal Function in Addison's Disease

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

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
PASODOBLEDEMI2, NCT05450640: Satisfaction Regarding the Dispensing of Emicizumab (HEMLIBRA®) for Patients With Haemophilia A in France

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)

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

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)

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
NCT06332105: Evaluation of Low Phenylalanine Formulas

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
ELEMENT, NCT04076176: The Effects of CGMP in Children and Adults With PKU

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
RESISTANT, NCT05632666: Respiratory Muscle Training in Patients With Spinal Muscular Atrophy (SMA).

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

Recruiting
N/A
20
 
ICD Regimen
Shanghai Changzheng Hospital; Shanghai Changzheng Hospital, Self-financing
POEMS syndrome
 
 
NCT04524481: Osteoporosis and Haemophilia

Recruiting
N/A
250
Europe
PD Dr. Andreas Strauß, Bayer
Osteoporosis, Haemophilia, Bone Mass
02/23
03/23
NCT04768348: Natural History Clinical Study in Adult PKU

Terminated
N/A
7
US
Homology Medicines, Inc
Phenylketonurias, PKU
02/23
08/23
NCT06349603: Physiotherapy Approach for Susac Syndrome

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

Completed
N/A
20
RoW
electroacupuncture
Yuanqi Zhao,MD
Neuromyelitis Optica Spectrum Disorders, Pain
02/23
02/23
NCT05531721: HLH Patients - a Retrospective Study

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

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

Completed
N/A
69
Europe
Qualitative interview
Haemnet, UniQure Biopharma B.V.
Hemophilia
02/23
02/23
NCT05497050: The Effect of Nursing Empowerment Program

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

Completed
N/A
60
RoW
Serum calprotectin and IMA concentrations
Mansoura University
Behçet's Diseasecases
03/23
03/23
PRAVDA, NCT04280601: PRagmatic Analysis of Vitamin D in ANCA-Associated Vasculitis

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

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
SNAP, NCT03858101: Study Nutrients in Adult PKU

Completed
N/A
71
Europe
Nutricia Research
Phenylketonuria
03/23
05/23
NCT04689360: An Intermediate Size Expanded Access Protocol of Elamipretide

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

Completed
N/A
18
Europe
Turoctocog alfa
Novo Nordisk A/S
Haemophilia A
03/23
03/23
NCT03329365: Paroxysmal Nocturnal Hemoglobinuria in ESUS & ETUS

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
NCT03169972: ADYNOVATE Drug Use-Results Survey

Completed
N/A
135
Japan
ADYNOVATE, BAX 855, BAX855, Recombinant Factor VIII (FVIII) PEGylated
Takeda, Takeda
Hemophilia A
09/23
09/23
CLHEAR-rFVIIIF, NCT04583930: Clinical and Health-related Outcome of rFVIIIFc Prophylaxis

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

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

Recruiting
N/A
12000
Europe
Retrospective data analysis
University Hospital Tuebingen
Rare Diseases, Genetic Predisposition
02/24
02/25
Hemofisio, NCT04114448: Therapeutic Exercise in Patients With Hemophilia

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

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
NEUTROSAS, NCT05691725: Evaluation of Peripheral Neutrophils in Antisynthetase Syndrome

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

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

Completed
N/A
94
RoW
Takeda
Hemophilia A
04/23
04/23
NCT05217992: Are There Differences Between Carriers of Haemophilia A and B?

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)

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

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

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

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.

Recruiting
N/A
10
Europe
Fondazione Policlinico Universitario Agostino Gemelli IRCCS
Hemophilia A
05/23
05/23
GALVANISE, NCT06343558: Gait and Balance Impairment in Rare and Very Rare Neurological Diseases

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
FACE-Rare, NCT04855734: FACE for Children With Rare Diseases

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

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

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

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

Recruiting
N/A
200
RoW
Blood collection
Ataturk University
Behçet Disease
09/24
09/24
NCT05222412: Managed Access Programs for LNP023, Iptacopan

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

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

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.

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

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

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

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

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

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

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

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

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

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

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

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

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)

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
NCT05982938: Danicopan Early Access Program

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)

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
 
 
DYS-SMA, NCT04773470: Quantitative Assessment of Dysphagia in Spinal Muscle Atrophy

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

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
SMA-REACH, NCT03520179: Improving Standards of Care and Translational Research in Spinal Muscular Atrophy (SMA)

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

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

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

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

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

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

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
 

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