Not yet recruiting

N/A

60

NA

serum sample and nerve conduction study and cerebrospinal fluid study

Assiut University

Behçet

10/24

11/24

Not yet recruiting

N/A

3

 

Intrathecal adeno-associated virus injection AAV9-SMN (GC101)

Beijing Tiantan Hospital, Capital Medical University; Beijing Tiantan Hospital, Capital Medical University, self-financing

Spinal Muscular Atrophy

 

 

Recruiting

N/A

175

Europe

SMA adult patients

Hospices Civils de Lyon

Spinal Muscular Atrophy

10/24

10/24

Recruiting

N/A

40

Europe

PKU express plus

Vitaflo International, Ltd

Phenylketonurias, PKU, Homocystinuria, Maple Syrup Urine Disease, Hereditary Tyrosinemia, Glutaric Acidemia I

10/24

04/25

Recruiting

N/A

60

Europe

General anesthesia for per-oral endoscopic myotomy

Centre Hospitalier Universitaire Vaudois

Esophageal Achalasia, Gastroparesis

11/24

11/25

Not yet recruiting

N/A

50

US

HEMLIBRA, Emicizumab-kxwh

Montefiore Medical Center, Genentech, Inc.

Hemophilia A

Enrolling by invitation

N/A

30000

US

Confirmatory Testing

RTI International, University of North Carolina, Chapel Hill, The John Merck Fund, Duke University, Wake Forest University, North Carolina Department of Health and Human Services, National Center for Advancing Translational Sciences (NCATS), Cure SMA, The National Fragile X Foundation, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), Asuragen, Inc., Sarepta Therapeutics, Inc., Muscular Dystrophy Association, The Leona M. and Harry B. Helmsley Charitable Trust, Juvenile Diabetes Research Foundation, Janssen Pharmaceuticals, GeneDx, Illumina, Inc.

Spinal Muscular Atrophy, Fragile X Syndrome, Fragile X - Premutation, Duchenne Muscular Dystrophy, Hyperinsulinemic Hypoglycemia, Familial 1, Diabetes Mellitus, Adrenoleukodystrophy, Neonatal, Medium-chain Acyl-CoA Dehydrogenase Deficiency, Very Long Chain Acyl Coa Dehydrogenase Deficiency, Beta-ketothiolase Deficiency, Severe Combined Immunodeficiency Due to Adenosine Deaminase Deficiency, Primary Hyperoxaluria Type 1, Congenital Bile Acid Synthesis Defect Type 2, Pyridoxine-Dependent Epilepsy, Hereditary Fructose Intolerance, Hypophosphatasia, Hyperargininemia, Mucopolysaccharidosis Type 6, Argininosuccinic Aciduria, Citrullinemia, Type I, Wilson Disease, Maple Syrup Urine Disease, Type 1A, Maple Syrup Urine Disease, Type 1B, Biotinidase Deficiency, Neonatal Severe Primary Hyperparathyroidism, Intrinsic Factor Deficiency, Usher Syndrome Type 1D/F Digenic (Diagnosis), Cystic Fibrosis, Stickler Syndrome Type 2, Stickler Syndrome Type 1, Alport Syndrome, Autosomal Recessive, Alport Syndrome, X-Linked, Carbamoyl Phosphate Synthetase I Deficiency Disease, Carnitine Palmitoyl Transferase 1A Deficiency, Carnitine Palmitoyltransferase II Deficiency, Cystinosis, Chronic Granulomatous Disease, Cerebrotendinous Xanthomatoses, Maple Syrup Urine Disease, Type 2, Severe Combined Immunodeficiency Due to DCLRE1C Deficiency, Thyroid Dyshormonogenesis 6, Thyroid Dyshormonogenesis 5, Supravalvar Aortic Stenosis, Factor X Deficiency, Hemophilia A, Hemophilia B, Tyrosinemia, Type I, Fructose 1,6 Bisphosphatase Deficiency, Glycogen Storage Disease Type I, G6PD Deficiency, Glycogen Storage Disease II, Galactokinase Deficiency, Mucopolysaccharidosis Type IV A, Galactosemias, Guanidinoacetate Methyltransferase Deficiency, Agat Deficiency, Glutaryl-CoA Dehydrogenase Deficiency, Gtp Cyclohydrolase I Deficiency, Hyperinsulinism-Hyperammonemia Syndrome, Primary Hyperoxaluria Type 2, 3-Hydroxyacyl-CoA Dehydrogenase Deficiency, Long-chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency, Mitochondrial Trifunctional Protein Deficiency, Sickle Cell Disease, Beta-Thalassemia, Holocarboxylase Synthetase Deficiency, 3-Hydroxy-3-Methylglutaric Aciduria, Primary Hyperoxaluria Type 3, Hermansky-Pudlak Syndrome 1, Hermansky-Pudlak Syndrome 4, Apparent Mineralocorticoid Excess, HSDB, CBAS1, Mucopolysaccharidosis Type 2, Mucopolysaccharidosis Type 1, Severe Combined Immunodeficiency, X Linked, Severe Combined Immunodeficiency Due to IL-7Ralpha Deficiency, Diabetes Mellitus, Permanent Neonatal, Isovaleric Acidemia, Severe Combined Immunodeficiency T-Cell Negative B-Cell Positive Due to Janus Kinase-3 Deficiency (Disorder), Jervell and Lange-Nielsen Syndrome 2, Hyperinsulinemic Hypoglycemia, Familial, 2, Diabetes Mellitus, Permanent Neonatal, With Neurologic Features, Jervell and Lange-Nielsen Syndrome 1, Lysosomal Acid Lipase Deficiency, CblF, 3-Methylcrotonyl CoA Carboxylase 1 Deficiency, 3-Methylcrotonyl CoA Carboxylase 2 Deficiency, Waardenburg Syndrome Type 2A, Methylmalonic Aciduria cblA Type, Methylmalonic Aciduria cblB Type, Methylmalonic Aciduria and Homocystinuria Type cblC, MAHCD, Methylmalonic Aciduria Due to Methylmalonyl-CoA Mutase Deficiency, Congenital Disorder of Glycosylation Type 1B, Mthfr Deficiency, Methylcobalamin Deficiency Type Cbl G (Disorder), Methylcobalamin Deficiency Type cblE, Usher Syndrome, Type 1B, N-acetylglutamate Synthase Deficiency, Ornithine Transcarbamylase Deficiency, Phenylketonurias, Waardenburg Syndrome Type 1, Congenital Hypothyroidism, Propionic Acidemia, Usher Syndrome, Type 1F, Pancreatic Agenesis 1, Hereditary Hypophosphatemic Rickets, Glycogen Storage Disease IXB, Glycogen Storage Disease IXC, MOWS, Epilepsy, Early-Onset, Vitamin B6-Dependent, Pyridoxal Phosphate-Responsive Seizures, Pituitary Hormone Deficiency, Combined, 1, Ptsd, Dihydropteridine Reductase Deficiency, Severe Combined Immunodeficiency Due to RAG1 Deficiency, Severe Combined Immunodeficiency Due to RAG2 Deficiency, Retinoblastoma, Multiple Endocrine Neoplasia Type 2B, Pseudohypoaldosteronism, Type I, Liddle Syndrome, Biotin-Responsive Basal Ganglia Disease, SCD, DIAR1, GSD1C, Acrodermatitis Enteropathica, Thyroid Dyshormonogenesis 1, Riboflavin Transporter Deficiency, Waardenburg Syndrome, Type 2E, SRD, Congenital Lipoid Adrenal Hyperplasia Due to STAR Deficiency, Barth Syndrome, Adrenocorticotropic Hormone Deficiency, Transcobalamin II Deficiency, Thyroid Dyshormonogenesis 3, Segawa Syndrome, Autosomal Recessive, Autosomal Recessive Nonsyndromic Hearing Loss, Thyroid Dyshormonogenesis 2A, Congenital Isolated Thyroid Stimulating Hormone Deficiency, Hypothyroidism Due to TSH Receptor Mutations, Usher Syndrome Type 1C, Usher Syndrome Type 1G (Diagnosis), Von Willebrand Disease, Type 3, Combined Immunodeficiency Due to ZAP70 Deficiency, Adenine Phosphoribosyltransferase Deficiency, Metachromatic Leukodystrophy, Canavan Disease, Menkes Disease, Carbonic Anhydrase VA Deficiency, Developmental and Epileptic Encephalopathy 2, 17 Alpha-Hydroxylase Deficiency, Smith-Lemli-Opitz Syndrome, Krabbe Disease, Glutathione Synthetase Deficiency, Mucopolysaccharidosis Type 7, Rett Syndrome, Molybdenum Cofactor Deficiency, Type A, Niemann-Pick Disease, Type C1, Niemann-Pick Disease Type C2, Ornithine Aminotransferase Deficiency, 3-Phosphoglycerate Dehydrogenase Deficiency, Leber Congenital Amaurosis 2, Dravet Syndrome, Mucopolysaccharidosis Type 3 A, Ornithine Translocase Deficiency, Carnitine-acylcarnitine Translocase Deficiency, Glucose Transporter Type 1 Deficiency Syndrome, Creatine Transporter Deficiency, Niemann-Pick Disease Type A, Pitt Hopkins Syndrome, Tuberous Sclerosis 1, Tuberous Sclerosis 2, Ataxia With Isolated Vitamin E Deficiency, Angelman Syndrome, Prader-Willi Syndrome, Homocystinuria, Permanent Neonatal Diabetes Mellitus, Transient Neonatal Diabetes Mellitus, Factor VII Deficiency, Glycogen Storage Disease Type IXA1, Glycogen Storage Disease, Type IXA2, Glycogen Storage Disease IC, Glycogen Storage Disease Type IB, Central Hypoventilation Syndrome With or Without Hirschsprung Disease

11/24

12/25

Recruiting

N/A

50

Europe

Chronometric method, Chromogenic method, Thrombin generation test (TGT)

Brugmann University Hospital

Hemophilia

12/24

12/24

Enrolling by invitation

N/A

287

Europe, RoW

University of Edinburgh, European Research Council

Paget Disease

12/24

12/24

Recruiting

N/A

150

US

Interview, Questions

St. Jude Children's Research Hospital

Gene Therapy, Hemophilia B

12/24

01/25

Not yet recruiting

N/A

100

NA

Research questions

EusaPharma (UK) Limited, University of Sheffield (ScHARR), KMC Health Care, Castleman Disease Collaborative Network (CDCN)

Idiopathic Multicentric Castleman's Disease

12/24

12/24

Recruiting

N/A

220000

Europe

University Hospital, Strasbourg, France

Feasibility of Neonatal Screening for Spinal Amyotrophy

12/24

12/24

Recruiting

N/A

250

Europe

Diagnostic test for HHV8 exposure

Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico

HHV8, HHV8 Infection, HHV8-Related Malignant Neoplasm, Kaposi Sarcoma, Lung Transplant; Complications, Liver Transplant; Complications, Kidney Transplant; Complications, Castleman Disease

12/24

12/25

Not yet recruiting

N/A

60

 

None ;None ;None

Shanghai Jing'an District Central Hospital; Shanghai Jing'an District Central Hospital, self-funded

neuromyelitis optica spectrum disorder

 

 

Recruiting

N/A

30

Europe

Blood test

The Leeds Teaching Hospitals NHS Trust

Addison Disease

12/24

12/24

Not yet recruiting

N/A

100

 

no

West China Second University Hospital; West China Second University Hospital, no

hemophagocytic lymphohistiocytosis

 

 

Active, not recruiting

N/A

20

US

POEM

Baylor Research Institute

Achalasia

01/25

12/25

Suspended

N/A

135

US

Genetic testing

Case Comprehensive Cancer Center

Castleman's Disease (CD), Langerhans Cell Histiocytosis (LCH), Non-Langerhans-Cell Histiocytosis

01/25

01/25

Recruiting

N/A

2000

US

University of Alabama at Birmingham

Lymphoma, Hemophagocytic Lymphohistiocytoses

Terminated

N/A

10

Europe

HR-pQCT, Blood sample, Dual energy X-ray absorptiometry, medical data collection

Hospices Civils de Lyon

Severe Hemophilia A, Osteoporosis

02/24

02/24

Recruiting

N/A

100

Canada

Esperoct, Turoctocog alfa pegol (N8-GP)

Novo Nordisk A/S

Haemophilia A

02/25

02/25

Recruiting

N/A

1600

Europe, Canada, US, RoW

University of British Columbia, BC Childrens Hospital Research Institute, University of Oxford

Wegeners Granulomatosis (Granulomatosis With Polyangiitis), Microscopic Polyangiitis, Eosinophilic Granulomatosis With Polyangiitis, Polyarteritis Nodosa, Takayasu Arteritis, Primary CNS Vasculitis, Unclassified Vasculitis

03/25

03/25

Recruiting

N/A

15

Europe

ACT

University Hospital, Grenoble

Hemophilia A

03/25

03/25

Recruiting

N/A

15

Europe

PKU UP

Vitaflo International, Ltd, Birmingham Women's and Children's NHS Foundation Trust

PKU

07/25

09/25

Not yet recruiting

N/A

8

US

Liver Biopsy

St. Jude Children's Research Hospital

Hemophilia A, Hemophilia B

05/25

05/25

Recruiting

N/A

150

US

University of Texas Southwestern Medical Center

Neuromyelitis Optica, Neuromyelitis Optica Spectrum Disorder, Transverse Myelitis, Optic Neuritis

06/25

06/25

Recruiting

N/A

5000

Europe

Assistance Publique - Hôpitaux de Paris, SNFMI, SFR, CRAT

Rheumatoid Arthritis, Spondyloarthritis, Psoriatic Arthritis, Systemic Lupus Erythematosus, Antiphospholipid Syndrome, Sjogren Syndrome, Scleroderma, Myositis, Vasculitis, Mastocytosis, Various Autoimmune and/or Systemic and/or Rare Diseases

06/25

12/25

Recruiting

N/A

110

US

TMS Paired-Pulse assessment of cortical excitability, Autonomic activity

University of Pittsburgh

Cyclic Vomiting Syndrome

06/25

06/25

Recruiting

N/A

116

US

Standard of Care, Exclusive Human Milk

Seattle Children's Hospital

Gastrointestinal Complication, Intestinal Obstruction, Gastroschisis, Hirschsprung Disease, Omphalocele, Midgut Volvulus

06/25

06/25

Recruiting

N/A

100

 

Infusion of mesenchymal stem cells

Children's Hospital of Fudan University; Children's Hospital of Fudan University, Hematopoietic stem cell transplantation MDT

Umbilical cord blood stem cell transplantation in the treatment of rare diseases in children

 

 

Recruiting

N/A

400

 

laparoscopic-assisted endorectal pull-through operation ;robotic-assisted endorectal pull-through operation

Union Hospital, Tongji Medical College, Huazhong University of Science and Technology; Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, National Health and Family Planning Commission of the People’s Republic of China with Grant No. 201402007

Hirschsprung's disease / HD

 

 

Completed

N/A

17667

US

Sanguine Biosciences

All Diagnosed Health Conditions, ADD/ADHD, Alopecia Areata, Ankylosing Spondylitis, Asthma, Atopic Dermatitis Eczema, Beta Thalassemia, Bipolar Disorder, Breast Cancer, Celiac Disease, Cervical Cancer, Chronic Inflammatory Demyelinating Polyneuropathy, Chronic Kidney Diseases, Chronic Obstructive Pulmonary Disease, Colon Cancer, Colorectal Cancer, Crohn's Disease, Cystic Fibrosis, Depression, Diabetes Mellitus, Duchenne Muscular Dystrophy, Endometriosis, Epilepsy, Facioscapulohumeral Muscular Dystrophy, G6PD Deficiency, General Anxiety Disorder, Hepatitis B, Hereditary Hemorrhagic Telangiectasia, HIV/AIDS, Human Papilloma Virus, Huntington's Disease, Idiopathic Thrombocytopenic Purpura, Insomnia, Kidney Cancer, Leukemia, Lung Cancer, Lupus Nephritis, Lymphoma, Melanoma, Multiple Myeloma, Multiple Sclerosis, Myositis, Myotonic Dystrophy, Ovarian Cancer, Pancreatic Cancer, Parkinson's Disease, Polycystic Kidney Diseases, Prostate Cancer, Psoriasis, Psoriatic Arthritis, Rosacea, Scleroderma, Sickle Cell Anemia, Sickle Cell Trait, Sjogren's Syndrome, Skin Cancer, Spinal Muscular Atrophy, Systemic Lupus Erythematosus, Thrombotic Thrombocytopenic Purpura, Trisomy 21, Ulcerative Colitis

04/24

04/24

Recruiting

N/A

6000

Europe

Centre Hospitalier Universitaire de Liege, Centre Hospitalier Régional de la Citadelle, University of Liege, Sanofi, Orchard Therapeutics, Takeda, Zentech-Lacar Company, Leon Fredericq Foundation

Congenital Adrenal Hyperplasia, Familial Hyperinsulinemic Hypoglycemia 1, Phosphoglucomutase 1 Deficiency, Maturity Onset Diabetes of the Young, Cystic Fibrosis, Hypophosphatasia, Infantile, Congenital Hypothyroidism, Deficit in Anterior Pituitary Function and Variable Immunodeficiency, Pituitary Hormone Deficiency, Combined, Diamond Blackfan Anemia, Wiskott-Aldrich Syndrome, Fanconi Anemia, Hemophilia A, Hemophilia B, Glucose 6 Phosphate Dehydrogenase Deficiency, Alpha-Thalassemia, Sickle Cell Disease, Shwachman-Diamond Syndrome, Alpha 1-Antitrypsin Deficiency, Inflammatory Bowel Disease 25, Autosomal Recessive, Wilson Disease, Progressive Familial Intrahepatic Cholestasis, Crigler-Najjar Syndrome, Familial Chylomicronemia, Lysosomal Acid Lipase Deficiency, Familial Hemophagocytic Lymphocytosis, Griscelli Syndrome, Chediak-Higashi Syndrome, Severe Congenital Neutropenia, Severe Combined Immune Deficiency, Chronic Granulomatous Disease, Menkes Disease, Adrenoleukodystrophy, Smith-Lemli-Opitz Syndrome, Ataxia With Vitamin E Deficiency, Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type), Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration and Progressive Polyneuropathy Type), Thiamine-Responsive Megaloblastic Anemia, Thiamine Metabolism Dysfunction Syndrome 2, Deficiency of GOT2, Cerebral Folate Transport Deficiency, Segawa Syndrome, Autosomal Recessive, Congenital Myasthenic Syndrome, Metachromatic Leukodystrophy, Sepiapterin Reductase Deficiency, Dopamine Beta Hydroxylase Deficiency, Glut1 Deficiency Syndrome, Late-Infantile Neuronal Ceroid Lipofuscinosis, Aromatic L-amino Acid Decarboxylase Deficiency, Charcot-Marie-Tooth Disease, Type 6C, Hereditary Hyperekplexia, Brain Dopamine-Serotonin Vesicular Transport Disease, Very Long Chain Hydroxy Acyl Dehydrogenase Deficiency, Tyrosinemia, Type I, Disaccharide Intolerance I, Beta Ketothiolase Deficiency, Phosphoglycerate Dehydrogenase Deficiency, Succinyl-Coa:3-Ketoacid Coa-Transferase Deficiency, Pyridoxine-5'-Phosphate Oxidase Deficiency, Pyridoxine-Dependent Epilepsy, Propionic Acidemia, Pompe Disease, Phenylalanine Hydroxylase Deficiency, Ornithine Transcarbamylase Deficiency, N Acetyl Glutamate Synthetase Deficiency, Riboflavin Deficiency, Maple Syrup Urine Disease, Medium Chain Acyl CoA Dehydrogenase Deficiency, Malonic Acidemia, Long-chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency, Isovaleric Acidemia, Phosphoserine Aminotransferase Deficiency, Phosphoserine Phosphatase Deficiency, Hyperornithinemia-Hyperammonemia-Homocitrullinuria, S-Adenosylhomocysteine Hydrolase Deficiency, Mucopolysaccharidosis VII, Mucopolysaccharidosis VI, Mucopolysaccharidosis IV A, Mucopolysaccharidosis II, Mucopolysaccharidosis I, Transcobalamin Deficiency, Isolated Methylmalonic Acidemia, Cobalamin Deficiency, Homocystinuria, Holocarboxylase Synthetase Deficiency, Fanconi Bickel Syndrome, Glycogen Storage Disease, Glycine Encephalopathy, Glutaric Acidemia I, Glucose Galactose Malabsorption, Gaucher Disease, Type 1, Galactosemias, Fructosemia, Fructose-1,6-Diphosphatase Deficiency, Carbamoyl Phosphate Synthase 1 Deficiency, Citrullinemia Type II, Citrullinemia 1, Creatine Deficiency Syndrome, Systemic Primary Carnitine Deficiency, Carnitine Palmitoyltransferase Deficiency 2, Carnitine Palmitoyltransferase Deficiency 1, Carnitine Acylcarnitine Translocase Deficiency, Riboflavin Transporter Deficiency, Branched-Chain Keto Acid Dehydrogenase Kinase Deficiency, Andersen Tawil Syndrome, Timothy Syndrome, Jervell-Lange Nielsen Syndrome, Catecholaminergic Polymorphic Ventricular Tachycardia, Familial Hypertrophic Cardiomyopathy Type 4, Pseudohypoaldosteronism, Type II, Pseudohypoaldosteronism Type 1, Primary Hyperoxaluria, X Linked Hypophosphatemia, Hereditary Nephrogenic Diabetes Insipidus, Cystinosis, Congenital Nephrotic Syndrome, Finnish Type, Alport Syndrome, Hereditary Retinoblastoma, Biotinidase Deficiency, Aciduria, Argininosuccinic, Argininemia, Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of, 3-Hydroxy 3-Methyl Glutaric Aciduria, 3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency

08/25

08/25

Recruiting

N/A

40

Europe

DM-DIV MITRA®, DM-DIV HemaPEN®

University Hospital, Grenoble

Phenylketonuria, Metabolic Diseases

12/25

12/25

Active, not recruiting

N/A

201

Canada

McGill University Health Centre/Research Institute of the McGill University Health Centre, Sinai Health System, Lawson Health Research Institute, Hopital du Sacre-Coeur de Montreal, St. Joseph's Healthcare Hamilton, University of Calgary, University of British Columbia, University of Alberta, Ottawa Hospital Research Institute, CAnadian Network for Advanced Interdisciplinary Methods for comparative effectiveness research, Canadian Initiative for Outcomes in Rheumatology Care

ANCA-associated Vasculitis, Granulomatosis With Polyangiitis, Microscopic Polyangiitis

09/25

09/25

Recruiting

N/A

180

Europe

Immediate umbilical cord clamping, intact cord resuscitation

University Hospital, Lille, Ministry of Health, France

Rare Diseases, Congenital Diaphragmatic Hernia

10/25

10/25

Recruiting

N/A

400

RoW

Biospecimen Collection

BioMarin Pharmaceutical

Hemophilia A

10/25

11/25

Not yet recruiting

N/A

24

Europe

BAL antigen-specific Th1 cells and Th17 cells, ILC and MAIT

Central Hospital, Nancy, France

Antisynthetase Syndrome

10/25

10/25

Not yet recruiting

N/A

150

NA

circulating neutrophils

Central Hospital, Nancy, France

Antisynthetase Syndrome

10/25

10/25

Enrolling by invitation

N/A

5000

US

Genetic test evaluation

Mayo Clinic

Undiagnosed Disease, Rare Diseases

11/25

11/25

Recruiting

N/A

247

Europe

disease modifying treatments

Fondazione Policlinico Universitario Agostino Gemelli IRCCS

Spinal Muscular Atrophy

11/25

04/26

Recruiting

N/A

50

US

University of California, Irvine

Inclusion Body Myopathy With Early-onset Paget Disease and Frontotemporal Dementia, Paget Disease of Bone, Frontotemporal Dementia, Myopathy

12/25

12/26

Completed

N/A

143

US

Achalasia subjects, Peroral Endoscopic Myotomy

University of Florida

Achalasia

05/24

05/24

Recruiting

N/A

500

Europe

Salivary and blood samples

University Hospital, Strasbourg, France

Rare Disease Orodontal

12/25

12/25

Recruiting

N/A

300

US

sample collection

Nemours Children's Clinic

Spinal Muscular Atrophy, Charcot-Marie-Tooth Disease, Muscular Dystrophy, Spinal Muscular Atrophy With Respiratory Distress 1, Amyotrophic Lateral Sclerosis, Motor Neuron Disease, Neuromuscular Disease, Peroneal Muscular Atrophy

12/25

12/25

Recruiting

N/A

1000

Canada, US

University of Pennsylvania, National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Center for Advancing Translational Sciences (NCATS), Office of Rare Diseases (ORD)

Aortitis, Cutaneous Vasculitis, Eosinophilic Granulomatosis With Polyangiitis, Giant Cell Arteritis, Granulomatosis With Polyangiitis (Wegener's), Henoch-Schonlein Purpura, IgA Vasculitis, Microscopic Polyangiitis, Polyarteritis Nodosa, Takayasu Arteritis, Churg-Strauss Syndrome

12/25

12/25

Recruiting

N/A

50

Europe

NGS Diagnostic, Omics Technology

University Hospital Tuebingen

Rare Diseases, Genetic Predisposition to Disease

12/25

12/26

Recruiting

N/A

20

US

Neurosleeve

Thomas Jefferson University

Neurologic Diseases, Hemiparesis, Quadriplegia, Muscular Dystrophies, Arthrogryposis, Spinal Cord Injuries, Charcot-Marie-Tooth, Stroke, Weakness of Extremities as Sequela of Stroke, Weakness Due to Upper Motor Neuron Dysfunction, Amyotrophic Lateral Sclerosis, Spinal Muscular Atrophy, Arm Paralysis, Cerebral Palsy

12/25

12/25

Recruiting

N/A

2300

RoW

Institute of Hematology & Blood Diseases Hospital

Multiple Myeloma, Myeloma, Multiple, Myelomas, Multiple, Acute Myeloid Leukemia, Leukemias, Acute Myeloid, Myeloid Leukemias, Acute, Hemophilia, Hemophilia A, Hemophilia As, Hemophilia B, Hemophilia Bs, Myelodysplastic Syndrome, MDS, Lymphoma, Leukemia, Aplastic Anemia, Bleeding Disorder, Bone Marrow Transplantation, Blood Disease Infection

12/25

12/30

Recruiting

N/A

160

 

No ;No

Hu'nan Children's Hospital; Hu'nan Children's Hospital, Hu'nan Children's Hospital

Epstein-Barr virus-associated hemophagocytic syndrome