Clinical trials: Aphasia, Primary Progressive
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.
Primary Progressive Aphasia
Preventing Language Decline in Dementia
This study will establish factors fundamental to the improvement in communication and quality of life for people with dementia known as primary progressive aphasia (PPA).
- Trial name
- NCT02541097
- Testing
- Language therapy
- Where
- Canada
- Volunteers
- 20 people
- Sponsor
- Baycrest
Niemann-Pick Disease, Type C1
Phase 3 Study to Evaluate Intravenous Trappsol(R) Cyclo(TM) in Pediatric and Adult Patients With Niemann-Pick Disease Type C1
A prospective, randomized, double-blind, placebo controlled, multi-center therapeutic study for patients age 3 and older with confirmed diagnosis of Niemann Pick disease type C1 (NPC1).
- Trial name
- TransportNPC (NCT04860960)
- Testing
- Hydroxypropyl-beta-cyclodextrin
- Where
- 35 sites in United States, Argentina and 11 more
- Volunteers
- 94 people
- Sponsor
- Cyclo Therapeutics, Inc.
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
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
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.
Niemann-Pick Disease Type C, GM2 Gangliosidosis
Long-Term Safety and Tolerability of Nizubaglustat in Participants With Rare Lysosomal Disorders
This is an open-label extension trial to evaluate the long-term safety and tolerability of nizubaglustat (AZ-3102) in participants with rare lysosomal disorders who have participated in a previous nizubaglustat trial and wish to…
- Conditions
- Niemann-Pick Disease Type C, GM2 Gangliosidosis, GM1 Gangliosidosis, Gaucher Disease Type 3
- Trial name
- HARBOR (NCT07885917)
- Testing
- AZ-3102
- Volunteers
- 218 people
- Sponsor
- Azafaros B.V.
Adrenoleukodystrophy, Batten Disease
UCB Transplant of Inherited Metabolic Diseases With Administration of Intrathecal UCB Derived Oligodendrocyte-Like Cells
The primary objective of the study is to determine the safety and feasibility of intrathecal administration of DUOC-01 in patients who are undergoing standard treatment with umbilical cord blood transplant (UCBT) for inborn…
- Conditions
- Adrenoleukodystrophy, Batten Disease, Mucopolysaccharidosis II, Leukodystrophy, Globoid Cell
- Trial name
- DUOC-01 (NCT02254863)
- Testing
- DUOC-01
- Where
- United States
- Volunteers
- 40 people
- Sponsor
- Joanne Kurtzberg, MD
Sickle Cell Disease, Thalassemia
Unrelated Hematopoietic Stem Cell Transplantation(HSCT) for Genetic Diseases of Blood Cells
This is a clinical trial of bone marrow transplantation for patients with the diagnosis of a genetic disease of blood cells that do not have an HLA-matched sibling donor.
- Conditions
- Sickle Cell Disease, Thalassemia, Anemia, Granuloma
- Trial name
- NCT00730314
- Testing
- Hematopoietic stem cell transplantation
- Where
- United States
- Volunteers
- 25 people
- Sponsor
- Children's Hospital Los Angeles
Hurler's Syndrome, Maroteaux-Lamy Syndrome
Hematopoietic Stem Cell Transplantation (HCT) for Inborn Errors of Metabolism
The primary objective of this clinical trial is to evaluate the ability to achieve and sustain donor engraftment in patients with lysosomal and peroxisomal inborn errors of metabolism undergoing hematopoietic stem cell…
- Conditions
- Hurler's Syndrome, Maroteaux-Lamy Syndrome, Sly Syndrome, Alpha Mannosidosis
- Trial name
- NCT00668564
- Testing
- Stem Cell Transplantation, Cyclophosphamide, Campath-1H
- Where
- United States
- Volunteers
- 18 people
- Sponsor
- Masonic Cancer Center, University of Minnesota
Primary Progressive Aphasia, Frontotemporal Dementia
Communication Bridge Speech Therapy Research Study
This is a study on Internet-based video-practice speech and language therapy for persons with primary progressive aphasia (PPA), behavioral-variant frontotemporal dementia (bvFTD), or related conditions.
- Trial name
- CB (NCT02439853)
- Testing
- Monthly Check-in Session
- Where
- United States
- Volunteers
- 57 people
- Sponsor
- University of Chicago
Spinal Muscular Atrophy, Fragile X Syndrome
Early Check: Expanded Screening in Newborns
Early Check provides voluntary screening of newborns for a selected panel of conditions. The study has three main objectives: 1) develop and implement an approach to identify affected infants, 2) address the impact on infants and…
- Conditions
- Spinal Muscular Atrophy, Fragile X Syndrome, Fragile X - Premutation, Duchenne Muscular Dystrophy
- Trial name
- NCT03655223
- Testing
- Confirmatory Testing
- Where
- United States
- Volunteers
- 30,000 people, healthy volunteers welcome
- Sponsor
- RTI International
Sphingomyelin Lipidosis
Safety, Tolerability, PK, and Efficacy Evaluation of Repeat Ascending Doses of Olipudase Alfa in Pediatric Patients <18 Years of Age With Acid Sphingomyelinase Deficiency
Primary Objective: To evaluate the safety and tolerability of olipudase alfa administered intravenously in pediatric participants every 2 weeks for 64 weeks.
- Trial name
- ASCEND-Peds (NCT02292654)
- Testing
- Olipudase alfa
- Where
- 6 sites in United States, Brazil and 4 more
- Volunteers
- 20 people
- Sponsor
- Genzyme, a Sanofi Company
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)
Neurodegenerative Diseases, Alzheimer Disease
Sociodemographic Factors and Criminal Behaviour Preceding Neurodegenerative Disease - Retrospective Register Study
In this retrospective register study, clinically classified individuals with neurodegenerative disease from the years 2010-2021 will be verified from the clinical records from KUH and Oulu University Hospital (OUH).
- Conditions
- Neurodegenerative Diseases, Alzheimer Disease, Frontotemporal Dementia, Lewy Body Disease
- Trial name
- DEGERWD (NCT06209515)
- Where
- Finland
- Volunteers
- 61,292 people
- Sponsor
- Kuopio University Hospital
Insomnia, Dementia
Lemborexant for Insomnia in a Patient With Dementia: An N-of-1 Trial
Insomnia is a highly common, chronic disorder that is distressful for the patient but also for caregivers and can give rise to a heavy burden on the healthcare team.
- Conditions
- Insomnia, Dementia, Frontotemporal Dementia
- Trial name
- NCT06093126
- Testing
- Lemborexant 5 MG
- Where
- Canada
- Volunteers
- 1 people
- Sponsor
- Nova Scotia Health Authority
Niemann-Pick Disease, Niemann-Pick Disease, Type C
Biomarker for Niemann Pick Type C Disease (BioNPC)
Development of a new MS-based biomarker for the early and sensitive diagnosis of Niemann Pick Type C disease from Blood (plasma)
- Trial name
- BioNPC (NCT01306604)
- Where
- 4 sites in Germany, India and 1 more
- Sponsor
- CENTOGENE GmbH Rostock
Niemann-Pick Disease, Type C1
Combined Intrathecal and Intravenous VTS-270 Therapy for Liver and Neurological Disease Associated With Niemann-Pick Disease, Type C1
Background: For people who have Niemann-Pick disease, type C1 (NPC1), cholesterol and other fats have trouble moving out of liver and other tissue cells. This makes the cells sick.
- Trial name
- NCT03887533
- Testing
- VTS-270
- Where
- United States
- Volunteers
- 2 people
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
ALS, Amyotrophic Lateral Sclerosis
NYSCF Scientific Discovery Biobank
The New York Stem Cell Foundation (NYSCF) Research Institute is performing this research to accelerate diverse disease research using cells from the body (such as skin or blood cells) to make stem cells and other types of cells…
- Conditions
- ALS, Amyotrophic Lateral Sclerosis, Alzheimer Disease, Alzheimer Disease, Early Onset
- Trial name
- NCT06203106
- Testing
- Biological Sample Collection
- Where
- United States
- Volunteers
- 10,000 people
- Sponsor
- New York Stem Cell Foundation Research Institute
Lysosomal Acid Lipase Deficiency
Clinical Study In Infants With Rapidly Progressive Lysosomal Acid Lipase Deficiency
This was an open-label, repeat-dose, study of sebelipase alfa in infants with rapidly progressive lysosomal acid lipase deficiency (LAL-D). Eligible participants received once-weekly infusions of sebelipase alfa for up to 3 years.
- Trial name
- NCT02193867
- Testing
- Sebelipase Alfa
- Where
- 5 sites in United States, Finland and 2 more
- Volunteers
- 10 people
- Sponsor
- Alexion Pharmaceuticals, Inc.