Completed

N/A

20

Europe

Manual therapy, Placebo manual therapy

Investigación en Hemofilia y Fisioterapia

Hemophilia

04/24

04/24

Recruiting

N/A

100000

Europe

Additional blood sampling

University Hospital, Rouen, University Hospital, Caen

Neonatal Screening, Lysosomal Storage Diseases

03/24

03/24

Recruiting

N/A

16

Europe

PKU GOLIKE, PKU GOLIKE is a food for special medicinal purposes (FSMP) for the dietary management of PKU.

APR Applied Pharma Research s.a.

Phenylketonurias

03/24

06/24

Recruiting

N/A

103

Europe, US

NMOSDCopilot smartphone application

Ad scientiam

Neuromyelitis Optica

11/24

07/25

Not yet recruiting

N/A

80

NA

Nail Fold Capillaroscopy, Optical Coherence Tomography Angiography, and Femoral Vein Wall Thickness by U.S

Assiut University

Behçet's Disease

03/25

04/25

Recruiting

N/A

40

RoW

Per-oral endoscopic myotomy, general anesthesia

Gangnam Severance Hospital

Achalasia

02/25

02/25

Completed

N/A

6

Europe

Thrombin generation assay (EnzySystem HemA version A - whole blood), Thrombin generation assay (Ceveron s100 (Technoclone) - fresh plasma), Additional coagulation tests

Enzyre B.V., Instytut Hematologii i Transfuzjologii, Warschau, Poland

Hemophilia A With Inhibitor, Hemophilia A

03/24

03/24

Not yet recruiting

N/A

300

NA

Ultomiris, There is no interventional drug. Ultomiris treatment is an inclusion criterion.

Alexion Pharmaceuticals, Inc.

Ultomiris-exposed Pregnant/ Postpartum, Pregnancy, Paroxysmal Nocturnal Hemoglobinuria (PNH), Atypical Hemolytic Uremic Syndrome (aHUS), Generalized Myasthenia Gravis (gMG), Neuromyelitis Optica Spectrum Disorder (NMOSD)

10/33

10/33

Active, not recruiting

N/A

13

US

Trail Making Test, Parts A & B, Brief Test of Attention, BTA, Symbol Span, WMS-IV, Controlled Oral Word Association Test, COWA, The Hopkins Verbal Learning Test-Revised, HVLT-R, Brief Visuospatial Memory Test-Revised, BVMT-R, Hospital Anxiety and Depression Scale, HADS, McGill Quality of Life Scale, McGill QOL, MR Brain Imaging, Resting state functional MRI, rsFMRI, Functional Assessment of Cancer Therapy Cognitive Scale (FACT-Cog)

Memorial Sloan Kettering Cancer Center

Histiocytosis

04/25

04/25

Not yet recruiting

N/A

80

NA

Stool antigen test

Sohag University

In Early Pregnancy

04/24

06/24

Not yet recruiting

N/A

60

Europe

evaluation of muscle function, First-line cognitive assessment, second-line cognitive assessment, Cardiac evaluation, MRI, Assessment of activity and muscle fatigue, Assessment of bulbar function, Evaluation of body composition and metabolism, Questionnaires, Biocollection, Skinfold measurement

Hospices Civils de Lyon

Spinal Muscular Atrophy

10/27

10/27

Not yet recruiting

N/A

300

NA

Meyer Children's Hospital IRCCS, Careggi Hospital, University of Florence

Eosinophilic Granulomatosis With Polyangiitis

09/25

12/25

Recruiting

N/A

24

Europe

Blood flow restriction

Investigación en Hemofilia y Fisioterapia

Hemophilia

07/24

09/24

Recruiting

N/A

91

Europe

Fondazione Policlinico Universitario Agostino Gemelli IRCCS

Spinal Muscular Atrophy

04/24

04/24

Recruiting

N/A

50

RoW

Fandong Meng

Esophageal Achalasia

04/24

04/24

Recruiting

N/A

200

US

Fetal Magnetocardiogram and Neonatal Electrocardiogram

Medical College of Wisconsin, National Heart, Lung, and Blood Institute (NHLBI), University of Wisconsin, Madison, Children's Hospital and Health System Foundation, Wisconsin, Shared Medical Technology, Inc., Tristan Technologies, Inc

High Risk Pregnancy, Congenital Heart Disease, Fetal Hydrops, Twin Monochorionic Monoamniotic Placenta, Gastroschisis, Fetal Demise, Stillbirth, Fetal Arrhythmia, Long QT Syndrome, Intrauterine Fetal Death, Sudden Infant Death, Pregnancy Loss, Twin Twin Transfusion Syndrome, Birth Defect, Fetal Cardiac Anomaly, Fetal Cardiac Disorder, Fetal Death, Brugada Syndrome

04/24

04/24

Enrolling by invitation

N/A

13

US

Pegvaliase-Pqpz

University of Missouri-Columbia, BioMarin Pharmaceutical

Phenylketonurias

04/24

04/24

Recruiting

N/A

70

Europe

Coventional coagulation, Underwater coagulation

Istituto Clinico Humanitas

Gastrointestinal Diseases, Endoscopic Surgery

03/25

03/25

Recruiting

N/A

55

RoW

Yonsei University

Intestinal Behcet Disease

06/25

12/25

Recruiting

N/A

74

 

coagulation factor precision replacement therapy based on PK detection ;maintain the upper limit of coagulation factor activity for replacement therapy recommended by hemophilia management guidelines

Nanfang Hospital, Southern Medical University; Nanfang Hospital, Southern Medical University, 2019 clinical research initiation programme of Southern Medical University

Haemophilia orthopaedic disorders

 

 

Not yet recruiting

N/A

30

Europe

PreKUnil® LNAA Medical Food for PKU

Rigshospitalet, Denmark

Brain Diseases, Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Genetic Diseases, Inborn, Metabolism, Inborn Errors, Amino Acid Metabolism, Inborn Errors, Metabolic Disease, Phenylketonurias

12/26

12/27

Recruiting

N/A

51

Europe

Observational group

Investigación en Hemofilia y Fisioterapia

Hemophilia

06/24

06/24

Recruiting

N/A

40

Europe

Molecular and genetic screening

Federico II University, San Raffaele University Hospital, Italy, San Giuseppe Moscati Hospital

Peripartum Cardiomyopathy

02/25

05/26

Recruiting

N/A

95

Europe

Beck depression inventory fast screen (Questionnaire), Brief Pain Inventory (BPI) (Questionnaire), German Pain Inventory (Questionnaire), Deutscher Schmerzfragebogen (DSF), Fatigue Severity and Disability Scale (FSS) (Questionnaire), Rotterdam Handicap Scale (RHS) (Questionnaire), R-PAct (Questionnaire), Quick Motor Function Test, Handheld Dynamometry (HHD), Six-minute walk test (6MWT), Pressure pain threshold, Muscle ultrasound, Vital signs, Borg Scale, Laboratory assessment: Creatine kinase, Laboratory assessment: Vitamin D Level, Laboratory assessment: calcium, Laboratory assessment: magnesium, Laboratory assessment: phosphate, Genetic test: ACE polymorphism, Genetic test: ACTN3 polymorphism, Blood draw for optional genetic exome sequencing

LMU Klinikum

Pompe Disease (Late-onset), Inclusion Body Myositis, Spinal Muscular Atrophy Type 3, FSHD

05/24

09/24

Recruiting

N/A

105

US

Investigational procedure

Sanofi

Gaucher Disease

07/24

07/24

Enrolling by invitation

N/A

50

US

pneumatic dilation, surgical myotomy

Vanderbilt University Medical Center

Achalasia

06/25

06/25

Recruiting

N/A

170

US

online surveys

Memorial Sloan Kettering Cancer Center

Supportive Care Needs of Caregivers

Not yet recruiting

N/A

22

NA

Exergaming

McGill University Health Centre/Research Institute of the McGill University Health Centre

Spinal Muscular Atrophy

12/26

12/27

Not yet recruiting

N/A

102

US

Case scenarios - questionnaire, Case scenarios - Focus groups, Use scenarios - Usability test, Use scenarios - interview

Enzyre B.V., Indiana Hemophilia & Thrombosis Center

Hemophilia A

06/24

06/24

Not yet recruiting

N/A

74

RoW

EFT GROUP, emotıonal free technıcal

Bezmialem Vakif University

Hyperemesis Gravidarum, Pregnancy

08/24

08/24

Active, not recruiting

N/A

127

Europe

Medication reconciliation

Assistance Publique - Hôpitaux de Paris, Agence Regionale de Sante d'Ile de France

Pulmonary Hypertension, Pulmonary Hypertension Chronic Thromboembolic, Pulmonary Arterial Hypertension

06/24

06/24

Not yet recruiting

N/A

30

US

MR-C-014

MedRhythms, Inc., Alexion Pharmaceuticals, Inc.

Neuromyelitis Optica Spectrum Disorder

12/24

12/24

Recruiting

N/A

1200

Canada, US

Kidney Biopsy

University of Michigan, National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), The NephCure Foundation

Minimal Change Disease (MCD), Membranous Nephropathy, Glomerulosclerosis, Focal Segmental

06/26

06/26

Completed

N/A

60

US

Short Myotomy, Standard Length Myotomy

Northwestern University

Achalasia

02/24

02/24

Not yet recruiting

N/A

100

RoW

National Taiwan University Hospital

Spinal Muscular Atrophy

06/24

12/24

Recruiting

N/A

120

 

Interventions for personalized exercise prescriptions include: 1) Aerobic exercise, aiming for moderate-intensity aerobic exercise with a target heart rate ± 5 beats/minute above the anaerobic threshold; 2) Strength training, aiming for moderate intensity, setting the target at 65%-70% of 1RM, 12-15 repetitions per set, with a 90-second rest between sets. Based on the patient's baseline muscle strength, 2-4 sets per session, 2-3 sessions per week; 3) Flexibility training, based on the patient's specific condition, with gentle stretches held for 15-40 seconds, 4 repetitions per set, 1-2 sets; 4) Balance training, based on patient evaluation, progressing from simple to complex exercises, from static to dynamic exercises, training for 5-10 minutes per day; 5) Orthotic device wearing, for patients who require orthotic devices to maintain daily activities. ;NA

Peking Union Medical College Hospital, Chinese Academy of Medical Sciences; Peking Union Medical College Hospital, National High Level Hospital Clinical Research Funding

Hemophilia

 

 

Recruiting

N/A

17

RoW

Emicizumab subcutaneous injection, Emicizumab concentration, FVIII inhibitor titer, FVIII Activity lab test

JW Pharmaceutical

Hemophilia A With Inhibitor, Hemophilia A Without Inhibitor

07/24

02/25

Not yet recruiting

N/A

604

NA

University Hospital, Clermont-Ferrand, Effik, Université d'Auvergne, AUDIPOG

Nausea and Vomiting

10/25

04/26

Recruiting

N/A

200

US

National Institute of Allergy and Infectious Diseases (NIAID)

Lymphohistiocytosis, Hemophagocytic, Secondary Hemophagocytic Lymphohistiocytosis, Macrophage Activation Syndrome, Hyperinflammatory Syndromes

10/30

04/31

Not yet recruiting

N/A

124

 

Preventive treatment program ;Individualized trough concentration target values were determined according to joint lesions, and prevention and treatment plans were formulated according to PK

Beijing Children's Hospital; Beijing Children's Hospital, Capital Medical University, None

hemophilia

 

 

Active, not recruiting

N/A

450

US

Children's Hospital of Philadelphia, Illumina, Inc.

Leukodystrophy, White Matter Disease, 4H Syndrome, Adrenoleukodystrophy, AMN, ALD, ALD (Adrenoleukodystrophy), X-linked Adrenoleukodystrophy, X-ALD, Adrenomyeloneuropathy, Aicardi Goutieres Syndrome, AGS, Alexander Disease, Alexanders Leukodystrophy, AxD, ADLD, Canavan Disease, CTX, Cerebrotendinous Xanthomatoses, Krabbe Disease, GALC Deficiency, Globoid Leukodystrophy, TUBB4A-Related Leukodystrophy, H-ABC - Hypomyelination, Atrophy of Basal Ganglia and Cerebellum, HBSL, HBSL - Hypomyelination, Brain Stem, Spinal Cord, Leg Spasticity, LBSL, Leukoencephalopathy With Brain Stem and Spinal Cord Involvement and High Lactate Syndrome (Disorder), Leukoencephalopathy With Brainstem and Spinal Cord Involvement and Lactate Elevation, ALSP, CSF1R Gene Mutation, HCC - Hypomyelination and Congenital Cataract, MLC1, Megalencephalic Leukoencephalopathy With Subcortical Cysts 1, MLD, Metachromatic Leukodystrophy, PMD, Pelizaeus-Merzbacher Disease, PLP1 Null Syndrome, PLP1 Gene Duplication | Blood or Tissue | Mutations, Pelizaeus-Merzbacher-Like Disease, 1, Peroxisomal Biogenesis Disorder, Zellweger Syndrome, Refsum Disease, Salla Disease, Sialic Storage Disease, Sjögren, Sjogren-Larsson Syndrome, Van Der Knapp Disease, Vanishing White Matter Disease, Charcot-Marie-Tooth, CMT, Mct8 (Slc16A2)-Specific Thyroid Hormone Cell Transporter Deficiency, Allan-Herndon-Dudley Syndrome, Cadasil, Cockayne Syndrome, Multiple Sulfatase Deficiency, Gangliosidoses, GM2 Gangliosidosis, BPAN, Labrune Syndrome, LCC, Mucopolysaccharidoses, TBCK-Related Intellectual Disability Syndrome

12/24

12/24

Recruiting

N/A

10

US

Columbia University, National Institute of Neurological Disorders and Stroke (NINDS)

Mitochondrial NeuroGastroIntestinal Encephalopathy (MNGIE)

08/24

08/24

Recruiting

N/A

29

US

IMT therapy using the Pr02 mobile device

Duke University, Genzyme, a Sanofi Company

Late-Onset Pompe Disease, Lysosomal Disease

08/24

08/24

Active, not recruiting

N/A

361

RoW

Hospital Israelita Albert Einstein, Biogen

Spinal Muscular Atrophy

08/24

01/25

Active, not recruiting

N/A

169

Europe, Canada, US, RoW

Registry study

The Hospital for Sick Children

Rare Histiocytic Disorders (RHDs), Juvenile Xanthogranuloma (JXG), Reticulohistiocytoma (Epithelioid Histiocytoma), Xanthoma Disseminatum (XD), Multicentric Reticulohistiocytosis (MRH), Systemic Juvenile Xanthogranuloma, Erdheim-Chester Disease (ECD), Multi-system Rosai-Dorfman Disease (RDD)

09/24

09/24

Recruiting

N/A

65

Europe

Analysis with Ergometer

IRCCS Policlinico S. Donato, University of Milan

Rare Diseases, Marfan Syndrome, Ehlers-Danlos Syndrome

09/24

02/25

Recruiting

N/A

20000

US

This is a non-interventional study

Sanguine Biosciences

Rare Diseases

09/24

09/24

Not yet recruiting

N/A

90

 

none ;none ;none

Fujian Medical University Union Hospital; Fujian Medical University Union Hospital, Supported by key Specialty of FuJian Medical University

Neuromyelitis optica spectrum disorders

 

 

Recruiting

N/A

62

Europe

Virtual reality, Standard of Care

Biogen

Spinal Muscular Atrophy (SMA)

10/24

10/24