Clinical trials: Sphingomyelin Lipidosis
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.
Dementia, Neurodegenerative Diseases
Retinal Hyperspectral Imaging in Neurodegenerative Diseases
Hyperspectral retinal imaging is a non-invasive imaging modality in which a series of images of the retina are captured using light of different wavelengths.
- Conditions
- Dementia, Neurodegenerative Diseases, Alzheimer Disease, Parkinson Disease
- Trial name
- NCT07545473
- Testing
- Hyperspectral camera
- Where
- Australia
- Volunteers
- 930 people, healthy volunteers welcome
- Sponsor
- Center for Eye Research Australia
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.
Gangliosidoses, GM2, Gangliosidosis, GM1
A Study to Evaluate the Safety and Efficacy of Oral Nizubaglustat (AZ-3102) in Late-infantile and Juvenile Forms of GM1 Gangliosidosis or GM2 Gangliosidosis
An 18-month double-blind, randomized, placebo-controlled, multicenter, Phase 3 study to evaluate the safety and efficacy of oral nizubaglustat (AZ-3102) in late-infantile and juvenile forms of GM1 gangliosidosis or GM2…
- Trial name
- NCT07082543
- Testing
- AZ-3102
- Where
- 27 sites in United States, Argentina and 12 more
- Volunteers
- 75 people
- Sponsor
- Azafaros B.V.
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
Early Access Program With Arimoclomol in US Patients With NPC
NPC is a rare, relentlessly progressive, neurological disease and associated with serious morbidity and shortened life expectancy.
- Trial name
- NCT04316637
- Testing
- Arimoclomol
- Where
- 13 sites in United States
- Sponsor
- ZevraDenmark
Niemann-Pick Type C Disease, GM1 Gangliosidosis
A Study to Evaluate the Safety and Efficacy of Oral Nizubaglustat (AZ-3102) in Late-infantile and Juvenile Forms of Niemann-Pick Type C Disease, GM1 Gangliosidosis or GM2 Gangliosidosis
An 18-month double-blind, randomized, placebo-controlled, multicenter, Phase 3 study to evaluate the safety and efficacy of oral nizubaglustat (AZ-3102) in late-infantile and juvenile forms of Niemann-Pick type C disease and in…
- Conditions
- Niemann-Pick Type C Disease, GM1 Gangliosidosis, GM2 Gangliosidosis
- Trial name
- NCT07054515
- Testing
- AZ-3102
- Where
- 39 sites in United States, Argentina and 15 more
- Volunteers
- 147 people
- Sponsor
- Azafaros B.V.
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
Psychiatric Adults Patients
Screening of Niemann-Pick Disease, Type C in a Psychiatric Population
Niemann-Pick disease, Type C is a rare genetic disorder characterized by a failing in intracellular cholesterol transport, inducing an accumulation of sphingolipids in the brain.
- Trial name
- NPCPsy (NCT02841358)
- Testing
- Blood sampling, Biopsy
- Where
- France
- Volunteers
- 22 people
- Sponsor
- University Hospital, Grenoble
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
Gaucher Disease, Acid SphingoMyelinase Deficiency
PREDIGA 2: Spanish Acronym of "Educational and Diagnostic Project for Gaucher and ASMD"
The study of splenomegaly, and the follow-up of splenectomized patients, is one of the causes of referral of these patients to pediatric gastroenterology and oncohematology clinics, and adult internal medicine and hematology.
- Conditions
- Gaucher Disease, Acid SphingoMyelinase Deficiency, ASMD, Niemann-Pick Diseases
- Trial name
- PREDIGA-2 (NCT05641103)
- Testing
- Patient with splenomegaly or splenectomy
- Where
- 14 sites in Spain
- Volunteers
- 122 people
- Sponsor
- Fundación Española de Hematología y Hemoterapía
Acid Sphingomyelinase Deficiency, Niemann-Pick Disease
Safety Study of rhASM Enzyme Replacement Therapy in Adults With Acid Sphingomyelinase Deficiency (Niemann-Pick Disease)
The purpose of this study is to determine the safe range of single doses of rhASM administered to adults with ASM deficiency.
- Trial name
- NCT00410566
- Testing
- rhASM
- Where
- United States
- Volunteers
- 11 people
- Sponsor
- Genzyme, a Sanofi Company
Niemann-Pick Diseases
Induced Pluripotent Stem Cells for Niemann Pick Disease
Establishment of individualized human cellular disease models based on induced pluripotent stem cells that reflect the broad heterogeneous phenotypic spectrum of Niemann Pick disease
- Trial name
- IPSNPABC (NCT03883750)
- Where
- Pakistan
- Volunteers
- 40 people
- Sponsor
- CENTOGENE GmbH Rostock
Juvenile Neuronal Ceroid Lipofuscinosis, Smith-Lemli-Opitz Syndrome
Functional Near-Infrared Spectroscopy (fNIRS) Combined With Diffuse Correlation Spectroscopy (DCS) in Neurocognitive Disease as Compared to Healthy Neurotypical Controls
Background: Neurocognitive disorders affect how the brain uses oxygen. They may affect mental development in children. These disorders can be studied with imaging scans that use radiation; however, these methods are not ideal for…
- Conditions
- Juvenile Neuronal Ceroid Lipofuscinosis, Smith-Lemli-Opitz Syndrome, Creatine Transporter Deficiency, Niemann-Pick Disease Type C1
- Trial name
- NCT05642221
- Where
- United States
- Volunteers
- 73 people
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Inherited Metabolic Diseases, Lysosomal Storage Disorders
ALD-101 Adjuvant Therapy of Unrelated Umbilical Cord Blood Transfusion (UCBT) in Patients With Inherited Metabolic Diseases
Eligible research subjects will receive an unrelated umbilical cord blood transfusion as a possible cure for their inherited metabolic disease.
- Conditions
- Inherited Metabolic Diseases, Lysosomal Storage Disorders, Peroxisomal Storage Diseases, Inborn Errors of Metabolism
- Trial name
- UCBT-002 (NCT00654433)
- Testing
- ALD-101
- Where
- 3 sites in United States
- Volunteers
- 40 people
- Sponsor
- Aldagen
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
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
Neimann-Pick Disease
Phase 1/2 Study of Vorinostat Therapy in Niemann-Pick Disease, Type C1
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
- NCT02124083
- Testing
- Vorinostat
- Where
- United States
- Volunteers
- 12 people
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
MLD, Krabbe Disease
Longitudinal Study of Neurodegenerative Disorders
The purpose of this study is to understand the course of rare genetic disorders that affect the brain. This data is being analyzed to gain a better understanding of the progression of the rare neurodegenerative disorders and the…
- Conditions
- MLD, Krabbe Disease, ALD, MPS I
- Trial name
- NCT03333200
- Testing
- Palliative Care, Hematopoetic Stem Cell Transplantation
- Where
- United States
- Volunteers
- 1,500 people
- Sponsor
- University of Pittsburgh
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