Clinical trials: Aphasia Primary Progressive
GM2 Gangliosidosis, Niemann-Pick Type C Disease
A Study to Evaluate the Safety and Efficacy of Nizubaglustat (AZ-3102) in Patients With GM2 Gangliosidosis or Niemann-Pick Type C Disease
This open-label study aims to gather long-term safety, tolerability, PK, biomarker, and clinical efficacy data relating to daily administration of Nizubaglustat in participants previously enrolled in the Phase 2 RAINBOW study…
- Trial name
- PRISMA (NCT07399704)
- Testing
- AZ-3102
- Where
- 3 sites in Brazil
- Volunteers
- 21 people
- Sponsor
- Azafaros B.V.
Alzheimer, Alzheimer Dementia (AD)
Restoring Cervical Lymphatic Drainage in Alzheimer's Disease
Alzheimer's disease (AD) is a progressive neurodegenerative disorder associated with the accumulation of abnormal proteins, including amyloid-beta and tau, in the brain.
- Trial name
- LymphDAD (NCT07854327)
- Testing
- Cervical lymphovenous anastomosis (LVA)
- Where
- Italy
- Volunteers
- 5 people
- Sponsor
- University of Siena
Asmd, Visceral Type
Biomarkers Of Lung InVolvement In ASMD
The goal of this study is to characterize ASMD patients' breath profile, exhaled breath and condensate as compared to healthy controls to identify specific volatile and non-volatile compounds that reflect inflammatory processes…
- Trial name
- BOLIVIA (NCT05914727)
- Testing
- eNose, Volatile exhaled breath sample, Condensate sample
- Where
- Netherlands
- Volunteers
- 68 people, healthy volunteers welcome
- Sponsor
- Eline C. B. Eskes
Niemann-Pick Disease, Type C1
Study of Lithium Carbonate to Treat Niemann-Pick Type C1 Disease
This study is planned to study whether lithium carbonate has protective effect on the brain of Niemann-Pick disease type C1.
- Trial name
- NCT03201627
- Testing
- Lithium Carbonate
- Where
- China
- Volunteers
- 18 people
- Sponsor
- Xinhua Hospital, Shanghai Jiao Tong University School of Medicine
Primary Progressive Aphasia, Neurodegenerative Diseases
Home-Based Exercise in Primary Progressive Aphasia (HEPPA)
This pilot study aims to evaluate the feasibility of a novel home-based multicomponent exercise program in adults clinically diagnosed with Primary Progressive Aphasia
- Conditions
- Primary Progressive Aphasia, Neurodegenerative Diseases, Logopenic Progressive Aphasia, Semantic Dementia
- Trial name
- HEPPA (NCT06181500)
- Testing
- Home-based multicomponent exercise intervention program
- Where
- 2 sites in Canada
- Volunteers
- 13 people
- Sponsor
- Montreal Heart Institute
Niemann-Pick Type C Disease
Miglustat in Niemann-Pick Type C Disease
This is a phase II randomized controlled study of miglustat in adult and juvenile patients with Niemann-Pick Type C disease. Up to 42 patients will be randomised in a 2:1 ratio to either treatment with miglustat or to a…
- Trial name
- NCT00517153
- Testing
- miglustat
- Volunteers
- 29 people
- Sponsor
- Actelion
Rare Diseases
European Registry on Rare Neurological Diseases
The recent implementation of European Reference Networks for Rare Diseases (ERNs) is an unprecedented move to improve the care of patients suffering from rare health disorders by transnational collaboration.
- Trial name
- ERN-RND reg (NCT04319796)
- Testing
- Data set as defined by the ERN Research Workgroup of the European Commission
- Volunteers
- 5,000 people
- Sponsor
- University Hospital Tuebingen
Sphingomyelin Lipidosis
A Prospective and Retrospective Cohort Study in Patients With Chronic Forms of Acid Sphingomyelinase Deficiency (ASMD)
Primary Objective: To describe the clinical features and their severity at the time of diagnosis and their evolution over time in patients with confirmed chronic visceral and chronic neurovisceral forms of ASMD To describe…
- Trial name
- NCT04106544
- Testing
- Investigational Procedures
- Where
- 28 sites in United States, Argentina and 11 more
- Volunteers
- 84 people
- Sponsor
- Sanofi
Lysosomal Acid Lipase Deficiency, Wolman Disease
Safety, Tolerability, Efficacy, Pharmacokinetics, and Pharmacodynamics of Sebelipase Alfa in Children With Growth Failure Due to Lysosomal Acid Lipase Deficiency
This was an open-label, repeat-dose, intra-participant dose-escalation study of SBC-102 (sebelipase alfa) in children with growth failure due to lysosomal acid lipase (LAL) Deficiency.
- Trial name
- NCT01371825
- Testing
- Sebelipase alfa (SBC-102)
- Where
- 7 sites in United States, Egypt and 3 more
- Volunteers
- 9 people
- Sponsor
- Alexion Pharmaceuticals, Inc.
Fabry Disease, Gaucher Disease
Complement Activation in the Lysosomal Storage Disorders
The lysosomal storage disorders (LSDs) are monogenic disorders associated with inflammation affecting multiple organs, and early death.
- Conditions
- Fabry Disease, Gaucher Disease, Niemann-Pick Disease, Type C, Lysosomal Storage Diseases
- Trial name
- CATALYST (NCT04189601)
- Testing
- Complement measurements
- Where
- Australia
- Volunteers
- healthy volunteers welcome
- Sponsor
- Melbourne Health
Hurler Syndrome (MPS I), Hurler-Scheie Syndrome
Phase I/II Pilot Study of Mixed Chimerism to Treat Inherited Metabolic Disorders
The goal of this research study is to establish chimerism and avoid graft-versus-host-disease (GVHD) in patients with inherited metabolic disorders.
- Conditions
- Hurler Syndrome (MPS I), Hurler-Scheie Syndrome, Hunter Syndrome (MPS II), Sanfilippo Syndrome (MPS III)
- Trial name
- NCT01372228
- Testing
- hematopoietic stem cell infusion
- Where
- United States
- Volunteers
- 3 people
- Sponsor
- Talaris Therapeutics Inc.
Niemann-Pick Disease, Type C
Biomarker Validation for Niemann-Pick Disease, Type C: Safety and Efficacy of N-Acetyl Cysteine
Background: Niemann-Pick disease type C (NPC) is a genetic disorder that results in progressive loss of nervous system function by affecting the membranes of nerve cells. There is no known cure for NPC.
- Trial name
- NCT00975689
- Testing
- N-Acetyl Cysteine
- Where
- United States
- Volunteers
- 35 people
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Niemann-Pick Disease, Type C
Study of IV VTS-270 for Infantile Liver Disease Associated With Niemann-Pick Disease, Type C
Niemann-Pick disease, type C (NPC) is a lethal, autosomal recessive, lysosomal storage disorder characterized by neurodegeneration in early childhood and death in adolescence.
- Trial name
- NCT03471143
- Testing
- VTS-270
- Where
- United States
- Volunteers
- 4 people
- Sponsor
- Washington University School of Medicine
Amyotrophic Lateral Sclerosis, Hereditary Spastic Paraplegia
Phenotype, Genotype and Biomarkers 2
The purpose of this study is to learn more about amyotrophic lateral sclerosis (ALS) and other related neurodegenerative diseases, including frontotemporal dementia (FTD), primary lateral sclerosis (PLS), hereditary spastic…
- Conditions
- Amyotrophic Lateral Sclerosis, Hereditary Spastic Paraplegia, Primary Lateral Sclerosis, Progressive Muscular Atrophy
- Trial name
- PGB2 (NCT04875416)
- Where
- 4 sites in United States, South Africa
- Volunteers
- 217 people, healthy volunteers welcome
- Sponsor
- University of Miami
Intracranial Central Nervous System Disorder, Mental Disorder
Test of A Model of Representational Knowledge Stored in the Human Prefrontal Cortex
This study will examine the underlying mental processes that determine how people understand social behavior, remember information, and think.
- Conditions
- Intracranial Central Nervous System Disorder, Mental Disorder, Healthy
- Trial name
- NCT00024908
- Where
- United States
- Volunteers
- 949 people, healthy volunteers welcome
- Sponsor
- National Institute of Neurological Disorders and Stroke (NINDS)
Primary Progressive Aphasia
Language in Primary Progressive Aphasia
The purpose of this study is to further define the neurological and linguistic deterioration in primary progressive aphasia.
- Trial name
- NCT00537004
- Where
- United States
- Volunteers
- 500 people
- Sponsor
- Northwestern University
Lysosomal Storage Disorders, Gaucher Disease
Investigating Lysosomal Storage Diseases in Minority Groups
Although lysosomal storage disorders, such as Fabry disease, Gaucher disease, and Pompe disease, represent serious challenges in the healthcare system, no study has yet investigated the prevalence of these diseases in the US.
- Conditions
- Lysosomal Storage Disorders, Gaucher Disease, Fabry Disease, Pompe Disease
- Trial name
- NCT02120235
- Where
- United States
- Volunteers
- 20,000 people, healthy volunteers welcome
- Sponsor
- O & O Alpan LLC
Niemann-Pick Disease Type C
Application of Miglustat in Patients With Niemann-Pick Type C
To evaluate the changes in cognitive function after miglustat treatment in Niemann-Pick type C patients.
- Trial name
- NCT01760564
- Testing
- Miglustat
- Where
- Taiwan
- Volunteers
- 5 people
- Sponsor
- National Taiwan University Hospital
Behavioral Variant Frontotemporal Dementia (bvFTD)
Safety and Efficacy Study Evaluating TRx0237 in Subjects With Behavioral Variant Frontotemporal Dementia (bvFTD)
The purpose of this study is to demonstrate the safety and efficacy of TRx0237 in the treatment of patients with behavioral variant frontotemporal dementia (bvFTD).
- Trial name
- NCT01626378
- Testing
- TRx0237
- Where
- 67 sites in United States, Australia and 10 more
- Volunteers
- 220 people
- Sponsor
- TauRx Therapeutics Ltd
I Cell Disease, Fucosidosis
Study of Pulmonary Complications in Pediatric Patients With Storage Disorders Undergoing Allogeneic Hematopoietic Stem Cell Transplantation
OBJECTIVES: I. Evaluate bronchoalveolar lavage fluid and serum obtained from pediatric patients with storage disorders prior to allogeneic hematopoietic stem cell transplantation (HSCT) for the presence of proinflammatory…
- Conditions
- I Cell Disease, Fucosidosis, Globoid Cell Leukodystrophy, Adrenoleukodystrophy
- Trial name
- NCT00005900
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- Fairview University Medical Center