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.
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.
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
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
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 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.
Niemann-Pick Disease, Type C
Adrabetadex to Treat Niemann-Pick Type C1 (NPC1) Disease
Due to different study designs, the sponsor separated Part C into this separate registration (NCT04958642), leaving Parts A/B in NCT02534844.
- Trial name
- NCT04958642
- Testing
- Adrabetadex
- Where
- 30 sites in United States, Australia and 7 more
- Volunteers
- 66 people
- Sponsor
- Mandos LLC
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
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
A Pivotal Study of N-Acetyl-L-Leucine on Niemann-Pick Disease Type C
A pivotal, randomized, double-blind, placebo controlled, multi-center therapeutic study for patients age 4 and older with a confirmed diagnosis of Niemann Pick disease type C (NPC).
- Trial name
- NCT05163288
- Testing
- N-Acetyl-L-Leucine
- Where
- 14 sites in United States, Australia and 6 more
- Volunteers
- 53 people
- Sponsor
- IntraBio Inc
Sphingomyelin Lipidosis
A Long-Term Study of Olipudase Alfa in Patients With Acid Sphingomyelinase Deficiency
The primary objective of this study was to obtain data regarding the safety of olipudase alfa in participants with acid sphingomyelinase deficiency (ASMD) who were exposed to long term treatment with olipudase alfa.
- Trial name
- NCT02004704
- Testing
- GZ402665
- Where
- 9 sites in United States, Belgium and 5 more
- Volunteers
- 25 people
- Sponsor
- Genzyme, a Sanofi Company
Niemann-Pick Disease, Type C1
Study of the Pharmacokinetics of Trappsol and Effects on Potential Biomarkers of Niemann-Pick C1 (NPC1)
This research study is being conducted to find out whether Trappsol® Cyclo™, an experimental treatment for people with Niemann Pick disease Type C (NPC-1) is safe at 2 different dose levels and what effects it has on people who…
- Trial name
- NCT02939547
- Testing
- Hydroxypropyl-beta-cyclodextrin
- Where
- 2 sites in United States
- Volunteers
- 13 people
- Sponsor
- Cyclo Therapeutics, Inc.
Niemann-Pick Disease, Type C
Open-label Study of VTS-270 in Participants With Neurologic Manifestations of Niemann-Pick Type C1
This is a multicenter, multinational, open-label study of VTS-270 to evaluate the long-term safety and tolerability of VTS-270 (2-hydroxypropyl-β-cyclodextrin) in participants transitioning from Study VTS301 (Parts A/B…
- Trial name
- NCT03879655
- Testing
- VTS-270
- Where
- Costa Rica
- Volunteers
- 2 people
- Sponsor
- Mandos LLC
Niemann-Pick Disease, Type C
Arimoclomol Prospective Study in Participants Diagnosed With Niemann-Pick Disease Type C
A prospective, randomized, double-blind, placebo controlled therapeutic study in participants with confirmed diagnosis of Niemann-Pick disease type C (NPC).
- Trial name
- NCT02612129
- Testing
- arimoclomol
- Where
- 14 sites in United States, Denmark and 7 more
- Volunteers
- 50 people
- Sponsor
- ZevraDenmark
Niemann-Pick Disease, Type C
N-Acetyl-L-Leucine for Niemann-Pick Disease, Type C (NPC)
This is a multinational, multicenter, open-label, rater-blinded prospective Phase II study which will assess the safety and efficacy of N-Acetyl-L-Leucine (IB1001) for the treatment of Niemann-Pick type C disease (NPC).
- Trial name
- NCT03759639
- Testing
- IB1001
- Where
- 9 sites in United States, Germany and 3 more
- Volunteers
- 33 people
- Sponsor
- IntraBio Inc