Active, not recruiting

3

53

Europe, US, RoW

N-Acetyl-L-Leucine, IB1001, Placebo

IntraBio Inc

Niemann-Pick Disease, Type C

06/23

11/24

Active, not recruiting

3

110

Europe, Canada, US, RoW

AL001, Placebo, Open label - AL001

Alector Inc.

Frontotemporal Dementia

09/25

10/27

Active, not recruiting

2/3

50

Europe, US

arimoclomol, Placebo

ZevraDenmark

Niemann-Pick Disease, Type C

06/18

01/25

Active, not recruiting

2a

42

Europe, US

TPN-101, 400 mg/day, Placebo

Transposon Therapeutics, Inc.

Amyotrophic Lateral Sclerosis, Frontotemporal Dementia

09/23

09/23

Ongoing

2

1300

Europe

18F-RO6958948, Vizamyl, Injection, Vizamyl (flutemetamol(F-18))

Skåne University Hospital, Hoffman La Roche Ltd., General Electric Ltd.

Neurodegenerative disorders with Tau-pathology; including, but not limited to, Alzheimer's disease, progressive supranuclear palsy,frontotemporal dementia, corticobasal degeneration and mild cognitive impairment., Diseases affecting the brain such as dementia or cognitive impairment; i.e. diseases that typically cause memory problems that the patientand/or relatives have noticed., Analytical, Diagnostic and Therapeutic Techniques and Equipment [E] - Diagnosis [E01]

 

 

Completed

2

33

Europe, US

IB1001, N-Acetyl-L-Leucine

IntraBio Inc

Niemann-Pick Disease, Type C

11/22

11/22

Active, not recruiting

2

13

RoW

AZ-3102 (Dose 1), Placebo, AZ-3102 (Dose 2)

Azafaros A.G.

GM2 Gangliosidosis, Niemann-Pick Disease, Type C

03/24

12/24

Not yet recruiting

2

150

Canada

Probiotic, Placebo

Centre hospitalier de l'Université de Montréal (CHUM), Lallemand Health Solutions

ALSFTD

02/27

02/27

Terminated

1/2

3

US

hematopoietic stem cell infusion

Talaris Therapeutics Inc., Duke University

Hurler Syndrome (MPS I), Hurler-Scheie Syndrome, Hunter Syndrome (MPS II), Sanfilippo Syndrome (MPS III), Krabbe Disease (Globoid Leukodystrophy), Metachromatic Leukodystrophy (MLD), Adrenoleukodystrophy (ALD and AMN), Sandhoff Disease, Tay Sachs Disease, Pelizaeus Merzbacher (PMD), Niemann-Pick Disease, Alpha-mannosidosis

04/16

04/16

Not yet recruiting

1/2

15

Europe

Recombinant AAV-9 vector expressing the human progranulin protein, AVB-101, Solution for injection

AviadoBio Ltd, AviadoBio Limited

Frontotemporal Dementia With Progranulin Mutations (FTD-GRN) Demencia Frontotemporal con mutaciones en el gen de la progranulina (DFT-GRN), Dementia Demencia, Diseases [C] - Nervous System Diseases [C10]

 

 

Terminated

1/2

8

Europe

WVE-004

Wave Life Sciences Ltd.

ALS, FTD

06/23

06/23

Active, not recruiting

1/2

106

Europe, RoW

DNL593, Placebo

Denali Therapeutics Inc., Takeda

Frontotemporal Dementia

11/25

11/25

Recruiting

1/2

30

Europe, US, RoW

LY3884963, Methylprednisolone, Optional Sirolimus, Optional Prednisone

Prevail Therapeutics, Eli Lilly and Company

Frontotemporal Dementia

08/29

08/29

Withdrawn

N/A

1000

Europe, RoW

CENTOGENE GmbH Rostock

Niemann-Pick Disease, Niemann-Pick Disease, Type C

02/21

02/21

Available

N/A

US

Arimoclomol

ZevraDenmark

Niemann-Pick Disease, Type C

 

 

Active, not recruiting

N/A

4500

Europe, RoW

Genetic Screening

CENTOGENE GmbH Rostock

Frontotemporal Dementia

06/24

09/24

Enrolling by invitation

N/A

US

Confirmatory Testing

Acid Sphingomyelinase Deficiency, Ceroid Lipofuscinosis, Neuronal, 2, Cerebrotendinous Xanthomatosis, Fabry Disease, GM1 Gangliosidosis, Gaucher Disease, Lysosomal Acid Lipase Deficiency, Metachromatic Leukodystrophy, Mucopolysaccharidosis II, Mucopolysaccharidosis III-B, Mucopolysaccharidosis IV A, Mucopolysaccharidosis VI, Mucopolysaccharidosis VII, Niemann-Pick Disease, Type C

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

Not yet recruiting

N/A

500

US

Power Life Sciences Inc.

Semantic Dementia

02/26

02/27

Recruiting

N/A

10000

US

Boston Cognitive Assessment (BoCA)

Alzheimer's Light LLC

Alzheimer Disease, Mild Cognitive Impairment, Vascular Dementia, Frontotemporal Dementia, Parkinson Disease, Multiple Sclerosis, TBI

10/29

10/29

Recruiting

N/A

155

RoW

Xuanwu Hospital, Beijing, XINGIMAGING LLC, H. Lundbeck A/S, Millennium Pharmaceuticals, Inc., Hoffmann-La Roche, Biogen, Hangzhou G-Bio Biotechnology Co., Ltd

Alzheimer Disease, Progressive Supranuclear Palsy, Frontotemporal Dementia

12/22

12/22