Online Trial Tracker - Larvol Sigma

Trial + Data / Events

Status

Region

Interventions

Sponsor

Conditions

Primary compl

Study compl

Rare Diseases

RegistrAME, NCT05475691: Longitudinal Data Collection in Pediatric and Adult Patients With Spinal Muscular Atrophy in Latin America

Active, not recruiting

N/A

361

RoW

Hospital Israelita Albert Einstein, Biogen

Spinal Muscular Atrophy

08/24

01/25

NCT06300996: Spinal Cord Stimulation for the Treatment of Motor Deficits in People With Spinal Muscular Atrophy - Upper Limb

Not yet recruiting

N/A

Spinal Cord Stimulator (Octopolar Medtronic Vectris Leads)

Marco Capogrosso, Roche-Genentech

Spinal Muscular Atrophy, Spinal Muscular Atrophy Type 3, Spinal Muscular Atrophy Type II, Spinal Muscular Atrophy 4, SMA

09/26

09/29

NCT05794217: A Multi-Site Leukopak Repository Providing Annotated Biospecimens for Approved Investigator-Directed Biomedical Research Initiatives

Recruiting

N/A

20000

This is a non-interventional study

Sanguine Biosciences

Rare Diseases

09/24

REALITY, NCT05354414: Virtual Reality for the Mitigation of Anxiety During Intrathecal Administration in Participants With Spinal Muscular Atrophy

Recruiting

N/A

Europe

Virtual reality, Standard of Care

Biogen

Spinal Muscular Atrophy (SMA)

10/24

NCT05051657: Evaluation of the Express Plus Range

Recruiting

N/A

Europe

PKU express plus

Vitaflo International, Ltd

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

10/24

04/25

PRESent-5, NCT05605678: Hemophilia Non-Interventional Study Prior to SerpinPC Intervention

Recruiting

N/A

200

Europe, Canada, US, RoW

No Intervention

ApcinteX Ltd, Centessa Pharmaceuticals plc

Hemophilia A, Hemophilia B

11/24

NCT05248594: Real World Use of Emicizumab in Infants and Children Ages 0-3 Years With Hemophilia A

Not yet recruiting

N/A

HEMLIBRA, Emicizumab-kxwh

Montefiore Medical Center, Genentech, Inc.

Hemophilia A

08/25

NCT03655223: Early Check: Expanded Screening in Newborns

Enrolling by invitation

N/A

30000

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

OPERA, NCT04675541: Register of Patients With haEmophilia A tReated With Afstyla®

Active, not recruiting

N/A

Europe

Afstyla®, CSL627

CSL Behring

Haemophilia A

12/24

NCT05463757: Oral Hedgehog Inhibitors in the Treatment of Basal Cell Carcinoma in the Netherlands: a Prospective Registration Study

Recruiting

N/A

Europe

Vismodegib, Erivedge, Sonidegib, Odomzo

Maastricht University Medical Center, Sun Pharmaceutical Industries Limited

Basal Cell Carcinoma, Locally Advanced Basal Cell Carcinoma, Metastatic Basal Cell Carcinoma, Gorlin Syndrome, Basal Cell Nevus Syndrome, Carcinoma, Basal Cell, Carcinoma, Basal Cell Tumor, Skin Cancer, Neoplasm of Skin, Neoplasms, Basal Cell

12/24

NCT05995834: Producing a Novel Symptom Burden Scale for People Living With Idiopathic Multicentric Castleman Disease (ISBUS)

Not yet recruiting

N/A

100

Research questions

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

Idiopathic Multicentric Castleman's Disease

12/24

ML43518, NCT06104826: Health-Related Quality of Life Outcomes and Bleeding Rates Among Patients With Severe Hemophilia A on Emicizumab

Not yet recruiting

N/A

Emicizumab

Newark Beth Israel Medical Center, Genentech, Inc.

Hemophilia A

12/24

12/25

NCT05621746: An Observational Research Study of the Health of Joints in People With Haemophilia Taking the Medicine Esperoct

Recruiting

N/A

100

Canada

Esperoct, Turoctocog alfa pegol (N8-GP)

Novo Nordisk A/S

Haemophilia A

02/25

NCT04334057: Post-Marketing Surveillance (Use-results Surveillance) With Esperoct®

Enrolling by invitation

N/A

Japan

Turoctocog alfa pegol

Novo Nordisk A/S

Haemophilia A

02/25

NCT04682145: Adverse Event Data Collection From the EUHASS Registry on Turoctocog Alfa Pegol

Enrolling by invitation

N/A

Europe

Turoctocog alfa pegol

Novo Nordisk A/S

Haemophilia A

04/25

PKU UP, NCT05995717: Evaluation of

Recruiting

N/A

Europe

PKU UP

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

PKU

07/25

09/25

NCT05236777: TOPIK Study: A Study to Report Progressive Multifocal Leukoencephalopathy and Other Serious Opportunistic Infections in Natalizumab Treated Participants

Recruiting

N/A

600

RoW

Natalizumab, Tysabri

Biogen, Association for Functional Rehabilitation, Recreation and Applied Kinesiology Impulse

Multiple Sclerosis

04/25

NCT05518773: Mechanisms and Treatment of Exercise Intolerance and Persistent Fatigue in Spinal Muscular Atrophy

Recruiting

N/A

Columbia University, Genentech, Inc.

Spinal Muscular Atrophy

06/25

09/25

SAN-BB-01, NCT01931644: At-Home Research Study for Patients With Autoimmune, Inflammatory, Genetic, Hematological, Infectious, Neurological, CNS, Oncological, Respiratory, Metabolic Conditions

Completed

N/A

17667

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

NCT05687474: Baby Detect : Genomic Newborn Screening

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

NCT03875547: Post-marketing Surveillance (Use Result Surveillance) With Refixia®

Enrolling by invitation

N/A

Europe, Japan

Refixia®

Novo Nordisk A/S

Haemophilia B

09/25

NCT05580692: A Prospective Study Evaluating Seroprevalence and Seroconversion of Antibodies Against Adeno-associated Virus (AAV)

Recruiting

N/A

400

RoW

Biospecimen Collection

BioMarin Pharmaceutical

Hemophilia A

10/25

11/25

A-MORE, NCT04293523: A 48-Month Study to Evaluate Long-Term Effectiveness of Elocta on Joint Health

Active, not recruiting

N/A

427

Europe, RoW

ELOCTA, ELOCTATE, efmoroctocog alfa, rFVIIIFc

Swedish Orphan Biovitrum

Hemophilia A

04/26

NCT01374360: Paroxysmal Nocturnal Hemoglobinuria (PNH) Registry

Recruiting

N/A

5950

Alexion Pharmaceuticals, Inc.

Paroxysmal Nocturnal Hemoglobinuria

12/24

JOIHA, NCT05643560: An Observational Study Called to Learn More About How Well the Treatment With Jivi Works to Prevent Problems With Joints in Adults With Hemophilia A

Recruiting

N/A

Europe

Damoctocog alfa pegol (Jivi, BAY94-9027)

Bayer

Hemophilia A, Prophylaxis of Bleeding

03/27

06/27

NCT05277272: INTO-HLH: A Disease Registry for Patients With Hemophagocytic Lymphohistiocytosis (HLH)

Recruiting

N/A

200

Children's Hospital Medical Center, Cincinnati, Sobi, Inc., Baylor College of Medicine

Hemophagocytic Lymphohistiocytoses

01/26

COMPLETE, NCT05776472: A Real World Effectiveness Study of Pegcetacoplan in Patients With Paroxysmal Nocturnal Hemoglobinuria (PNH)

Recruiting

N/A

200

Europe

Pegcetacoplan, Aspaveli, Empaveli

Swedish Orphan Biovitrum

Paroxysmal Nocturnal Hemoglobinuria

01/26

07/27

NCT04348708: Long-Term Follow Up Study of Subjects Previously Administered HMI 102

Enrolling by invitation

N/A

HMI-102

Homology Medicines, Inc

Phenylketonuria, PAH Deficiency

01/26

12/26

PIERRE, NCT05866419: Study of an Intrathecal Port and Catheter System for Subjects With Spinal Muscular Atrophy

Recruiting

N/A

ThecaFlex DRx System

Alcyone Therapeutics, Inc, Biogen

Spinal Muscular Atrophy, Spine Deformity, Scoliosis

05/26

03/27

EmiMSK, NCT04131036: Effects of Emicizumab vs. Factor VIII Prophylaxis on Joint and Bone Health in Severe Hemophilia A

Recruiting

N/A

assessment of joint health and bone density

Washington Institute for Coagulation, Genentech, Inc.

Hemophilia A

08/26

ACCELERATE, NCT02817997: International Registry for Patients With Castleman Disease

Recruiting

N/A

1000

University of Pennsylvania, EUSA Pharma, Inc., Castleman Disease Collaborative Network, Food and Drug Administration (FDA)

Castleman Disease, Castleman's Disease, Giant Lymph Node Hyperplasia, Angiofollicular Lymph Hyperplasia, Angiofollicular Lymph Node Hyperplasia, Angiofollicular Lymphoid Hyperplasia, GLNH, Hyperplasia, Giant Lymph Node, Lymph Node Hyperplasia, Giant

09/26

OrPHEe, NCT05086575: Observatory of Patients With Haemophilia B Treated by IdElvion®

Recruiting

N/A

100

Europe

CSL Behring

Haemophilia B

12/27

SCS in SMA, NCT05430113: Spinal Cord Stimulation in Spinal Muscular Atrophy

Active, not recruiting

N/A

Spinal Cord Stimulator (octopolar Medtronic Vectris Leads)

Marco Capogrosso, Roche-Genentech

Spinal Muscular Atrophy Type 3, Spinal Muscular Atrophy Type 4

09/26

08/27

NCT05568459: A Trial That Evaluates Disease Characteristics in Hemophilia B Adult Male Participants Receiving Prophylaxis With Standard of Care Factor IX Protein (FIX) Replacement Therapy

Recruiting

N/A

120

Europe, Canada, US

Non-Interventional

Regeneron Pharmaceuticals

Hemophilia B

04/26

STEP, NCT05022459: Prevention of Bleeding in Patients With Moderate and Severe Hemophilia A Playing Sports: A Comparison Between Factor VIII and Emicizumab Prophylaxis

Recruiting

N/A

120

Emicizumab, FVIII

Wayne State University, Genentech, Inc.

Hemophilia A

12/27

01/28

HEM-POWR, NCT03932201: Evaluating Effectiveness and Long Term Safety of Damoctocog Alfa Pegol in Patients, Who Have Been Diagnosed With Hemophilia A

Active, not recruiting

N/A

371

Europe, Canada, Japan, US, RoW

Damoctocog alfa pegol (Jivi, Bay94-9027)

Bayer

Hemophilia A

12/26

03/27

LIFE-ACTIVE, NCT04091386: Study to Learn More About the Physical Activity Level of Patients Suffering From Hemophilia A Treated With Damoctocog Alfa Pegol (LIFE ACTIVE Study)

Active, not recruiting

N/A

Europe, Canada, US, RoW

Damoctocog alfa pegol (Jivi, BAY94-9027)

Bayer

Hemophilia A

12/26

06/27

pathfinder9, NCT04574076: A Study Following Males With Haemophilia A on Prophylaxis With Esperoct®

Enrolling by invitation

N/A

Europe, RoW

Turoctocog alfa pegol (N8-GP)

Novo Nordisk A/S

Haemophilia A

06/27

GUARDIAN, NCT05990179: Genomic Uniformed-Screening Against Rare Disease In All Newborns

Recruiting

N/A

100000

Genome sequencing-based newborn screening

Columbia University, Illumina, Inc., GeneDx, New York State Department of Health

Early Onset Genetic Conditions With Near Complete Penetrance

09/27

NCT05042921: Pediatric Spinal Muscular Atrophy (SMA) China Registry

Recruiting

N/A

600

RoW

Biogen

Muscular Atrophy, Spinal

09/27

NCT03690336: Adverse Event Data Collection From External Registries on Nonacog Beta Pegol

Enrolling by invitation

N/A

Europe

Nonacog beta pegol

Novo Nordisk A/S

Haemophilia B

10/27

NCT04404530: Nutritional Impacts of Palynziq on Patients With Phenylketonuria (PKU)

Recruiting

N/A

Palynziq, Pegvaliase

Emory University, BioMarin Pharmaceutical

Phenylketonurias

11/27

paradigm8, NCT03745924: A Study Following Males With Haemophilia B on Prophylaxis With Refixia/REBINYN

Enrolling by invitation

N/A

Europe, Canada, RoW

Nonacog beta pegol

Novo Nordisk A/S

Haemophilia B

12/27

NCT05618379: Adult Spinal Muscular Atrophy (SMA) China Registry

Active, not recruiting

N/A

200

RoW

Biogen

Muscular Atrophy, Spinal

06/28

NCT05911763: A Study to Evaluate Impact of Efanesoctocog Alfa on Long-term Joint Health in Participants With Hemophilia A

Recruiting

N/A

200

Efanesoctocog Alfa BIVV001, ALTUVIIIO

Sanofi

Hemophilia A

06/28

HA-SAFE, NCT04461639: Study to Learn More About the Safety of Drug Jivi Over a Long Period of Time in Previously Treated Patients With Hemophilia A (Bleeding Disorder Resulting From a Lack of FVIII) Who Are Receiving Jivi Regularly at Their Treating Doctors to Prevent Bleeding

Active, not recruiting

N/A

Europe

Damoctocog alfa pegol (Jivi, BAY94-9027)

Bayer

Hemophilia A

06/28

MOTIVATE, NCT04023019: Treatment of Hemophilia A Patients With FVIII Inhibitors

Recruiting

N/A

120

Europe, US

Nuwiq, Octanate, Wilate, Emicizumab, Hemlibra, Recombinant factor VIIa (rFVIIa), NovoSeven, Activated prothrombin complex concentrate (aPCC), FEIBA

Emory University, Octapharma

Hemophilia A

12/28

06/29

NAVIGATE, NCT05802836: Dynamics of the Anti-factor VIII Antibody Signature During Treatment With Emicizumab

Recruiting

N/A

100

Europe

no interventions

Christoph Königs, Roche Pharma AG, Chugai Pharma Germany GmbH

Severe Hemophilia A, Severe Hemophilia A With Inhibitor, Severe Hemophilia A Without Inhibitor

12/28

12/29

EHCO, NCT05629130: Embolization in Hereditary Coagulopathies

Recruiting

N/A

RoW

embolization with spherical microparticles embosphere

University of Sao Paulo General Hospital, Merit Medical Systems, Inc.

Hemophilia, Embolization, Hemarthrosis, Clotting Factor Deficiency, Synovitis, Arthropathy

12/28

12/29

NCT05966467: Registry of Patients With AQP4+ NMOSD Treated With Alexion C5 Inhibitor Therapies

Recruiting

N/A

122

Alexion Pharmaceuticals, Inc.

Neuromyelitis Optica Spectrum Disorder, NMOSD, AQP4+ NMOSD

09/26

LTFU, NCT04628871: Long Term Follow-up () of Subjects Who Received SB-318, SB-913, or SB-FIX

Active, not recruiting

N/A

SB-318, SB-913, SB-FIX

Sangamo Therapeutics

Hemophilia B, Mucopolysaccharidosis I, Mucopolysaccharidosis II

01/30

NCT04158934: A Long-term Study of ADYNOVI/ADYNOVATE in Participants With Haemophilia A

Active, not recruiting

N/A

207

Europe, US, RoW

ADYNOVI/ADYNOVATE, Antihaemophilic Factor [Recombinant] PEGylated rurioctocog alfa pegol, TAK-660, BAX 855

Baxalta now part of Shire

Hemophilia A

02/30

Protect-NOW, NCT03695978: Efficacy, Safety & Utilisation of Nuwiq, Octanate and Wilate in Previously Untreated & Minimally Treated Haemophilia A Patients

Recruiting

N/A

200

Europe, Canada, US, RoW

Octapharma

Haemophilia A

06/30

NCT02714764: Evaluation of Outcome Metrics in Alexander Disease

Recruiting

N/A

100

Children's Hospital of Philadelphia, Ionis Pharmaceuticals, Inc., University of Wisconsin, Madison, Pennsylvania Department of Health

Alexander Disease

12/30

NCT03047369: The Myelin Disorders Biorepository Project

Recruiting

N/A

12000

Children's Hospital of Philadelphia, National Institutes of Health (NIH), National Institute of Neurological Disorders and Stroke (NINDS), National Center for Advancing Translational Sciences (NCATS), Affinia Therapeutics, Biogen, Eli Lilly and Company, Homology Medicines, Inc, Myrtelle Inc., Orchard Therapeutics Ltd., Passage Bio, Inc., Synaptix Biotherapeutics Ltd., Takeda, Boehringer Ingelheim, Ionis Pharmaceuticals, Sanofi Winthrop Industrie, Sana Biotechnology, Inc., Yaya Foundation for 4H Leukodystrophy, University of Pennsylvania

Leukodystrophy, White Matter Disease, Leukoencephalopathies, 4H Syndrome, Adrenoleukodystrophy, AMN, ALD, ALD Gene Mutation, 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, MLD, Metachromatic Leukodystrophy, PMD, Pelizaeus-Merzbacher Disease, PLP1 Null Syndrome, PLP1 Gene Duplication | Blood or Tissue | Mutations, Pelizaeus Merzbacher Like Disease, 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

12/30

NCT05909761: Observational Safety Study in Women With Neuromyelitis Optica Spectrum Disorder (NMOSD) Exposed to UPLIZNA® During Pregnancy

Recruiting

N/A

UPLIZNA, inebilizumab-cdon

Amgen

Neuromyelitis Optica Spectrum Disorder, Pregnancy Related

08/32

PALomino, NCT05579548: A Global, Multicenter Study to Assess Maternal, Fetal and Infant Outcomes of Exposure to Palynziq® (Pegvaliase) During Pregnancy and Breastfeeding

Recruiting

N/A

Europe, US

Pegvaliase

BioMarin Pharmaceutical, Syneos Health

Phenylketonuria, Maternal

10/32

NCT05789758: A Study of Spinraza (Nusinersen) Exposure in Pregnant Women With Spinal Muscular Atrophy (SMA) Within Existing SMA Registries

Recruiting

N/A

No Intervention

Biogen

Muscular Atrophy, Spinal

10/32

10/33

NCT03432520: Long-Term Safety and Efficacy of Spark-Sponsored Gene Therapies in Males With Hemophilia A

Active, not recruiting

N/A

Canada, US, RoW

SPK-8011

Spark Therapeutics

Hemophilia A

12/32

PALace, NCT05813678: A Long-term, Post-marketing Safety Study of Palynziq in Patients With PKU

Recruiting

N/A

450

Europe, US

Pegvaliase

BioMarin Pharmaceutical

Phenylketonuria (PKU)

11/33

LTFU, NCT03421977: Long-Term Follow-up Study for Patients From AVXS-101-CL-101

Active, not recruiting

N/A

Onasemnogene Abeparvovec-xioi, Zolgensma

Novartis Gene Therapies

Spinal Muscular Atrophy 1

12/30

NCT05962398: Long-term Follow-up Study of Male Adults With Hemophilia B Previously Treated With Etranacogene Dezaparvovec (CSL222)

Enrolling by invitation

N/A

AAV5-hFIXco-Padua, Etranacogene dezaparvovec

CSL Behring

Hemophilia B

03/35

ATHN Transcends, NCT04398628: A Natural History Study of Non-Neoplastic Hematologic Disorders

Recruiting

N/A

3000

American Thrombosis and Hemostasis Network, Pfizer, Hemophilia of Georgia, Inc., Genentech, Inc., Hemab Therapeutics, CSL Behring, Sanofi, Novo Nordisk A/S

Hematologic Disorder, Bleeding Disorder, Connective Tissue Disorder, Hemophilia, Thrombosis, Von Willebrand Diseases, Thrombophilia, Rare Bleeding Disorder, Platelet Disorder, Factor IX Deficiency, Factor VIII Deficiency, Thalassemia, Sickle Cell Disease

06/35

12/35

NCT04174157: Registry of Patients With a Diagnosis of Spinal Muscular Atrophy (SMA)

Recruiting

N/A

500

Europe, Japan, US, RoW

Prospective observational registry, Zolgensma

AveXis, Inc., United BioSource, LLC

Spinal Muscular Atrophy (SMA)

06/38

ARISER, NCT06019637: A Long-term Safety Study in Brazilian Patients With a Diagnosis of Spinal Muscular Atrophy Treated With Zolgensma

Recruiting

N/A

RoW

Onasemnogene Abeparvovec, Zolgensma

Novartis Pharmaceuticals

Spinal Muscular Atrophies

08/38

NCT05768386: A Long-Term Follow-Up Study in Severe Hemophilia A Subjects Who Received BMN 270 in a Prior BioMarin Clinical Trial (270-401)

Enrolling by invitation

N/A

172

Europe, US

BioMarin Pharmaceutical

Hemophilia A

01/40

IX-TEND 4001, NCT06008938: An Observational Cohort Study to Characterize the Effectiveness and Safety of HEMGENIX® in Patients With Hemophilia B

Recruiting

N/A

500

HEMGENIX, Etranacogene dezaparvovec, Factor IX (FIX)

CSL Behring

Hemophilia B

08/43

NCT05017142: Swiss Pediatric Inflammatory Brain Disease Registry (Swiss-Ped-IBrainD)

Recruiting

N/A

500

Europe

University of Bern, Schweizerische Multiple Sklerose Gesellschaft, University Hospital Inselspital, Berne, Roche Pharma (Switzerland) Ltd, Novartis

Optic Neuritis, Transverse Myelitis, Acute Disseminated Encephalomyelitis, Multiple Sclerosis, Neuromyelitis Optica Spectrum Disorder, Anti-NMDAR Encephalitis, Anti-GAD65 Associated Autoimmune Encephalitis, Anti-AMPAR-1/2 Associated Autoimmune Encephalitis, Anti-Lgi-1 Associated Autoimmune Encephalitis, Anti-CASPR-2 Associated Autoimmune Encephalitis, Anti-GABAR-1/2 Associated Autoimmune Encephalitis, Onconeuronal Antibody (Hu, Ri, Yo, Amphiphysin, CRMP-5, Ma-1, Ma-2, SOX-1) Associated Autoimmune Encephalitis, Hashimoto Encephalitis, CNS Vasculitis, CNS Sarcoidosis, CNS Lupus, Rasmussen Encephalitis

01/71



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