Clinical trials: Lysosomal Storage Disease
Gaucher Disease, Type 1
A Study of Eliglustat Tartrate (Genz-112638) in Patients With Gaucher Disease Who Have Reached Therapeutic Goals With Enzyme Replacement Therapy (ENCORE)
This Phase 3 study was designed to confirm the efficacy and safety of eliglustat tartrate (Genz-112638) in participants with Gaucher disease type 1 who had reached therapeutic goals with enzyme replacement therapy (ERT).
- Trial name
- ENCORE (NCT00943111)
- Testing
- Eliglustat tartrate, Imiglucerase
- Where
- 34 sites in United States, Argentina and 10 more
- Volunteers
- 160 people
- Sponsor
- Genzyme, a Sanofi Company
Gaucher Disease, Type 1 Gaucher Disease
A Long-Term Extension Study of AT2101 (Afegostat Tartrate) in Type 1 Gaucher Patients
This study evaluated the long-term safety and efficacy of afegostat tartrate in participants with Gaucher disease who were enrolled in a previous Phase 2 study of afegostat tartrate.
- Conditions
- Gaucher Disease, Type 1 Gaucher Disease, Gaucher Disease, Type 1
- Trial name
- NCT00813865
- Testing
- afegostat tartrate
- Where
- 4 sites in United States, United Kingdom
- Volunteers
- 8 people
- Sponsor
- Amicus Therapeutics
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.
Niemann-Pick Disease, Type C1
Safety and Efficacy of Intravenous Trappsol Cyclo (HPBCD) in Niemann-Pick Type C Patients
This research study is being conducted to find out whether Trappsol® Cyclo™, an experimental treatment for people with Niemann-Pick disease Type C1 (NPC-1) is safe at 3 different dose levels and what effects it has on people who…
- Trial name
- NCT02912793
- Testing
- Hydroxypropyl-beta-cyclodextrin
- Where
- 5 sites in Israel, Sweden and 1 more
- Volunteers
- 12 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
Mucopolysaccharidosis II
A Study of Tividenofusp Alfa (DNL310) in Pediatric Participants With Hunter Syndrome
This is a multicenter, multiregional, open-label study to assess the safety, pharmacokinetics (PK), and pharmacodynamics (PD) of tividenofusp alfa (DNL310), an investigational central nervous system (CNS)-penetrant enzyme…
- Trial name
- NCT04251026
- Testing
- tividenofusp alfa
- Where
- 7 sites in United States, Canada and 2 more
- Volunteers
- 47 people
- Sponsor
- Denali Therapeutics Inc.
Lysosomal Acid Lipase Deficiency
An Expanded Access Protocol for Sebelipase Alfa for Patients With Lysosomal Acid Lipase Deficiency
This is an open-label, multicenter expanded access protocol to allow patients with a confirmed diagnosis of Lysosomal Acid Lipase (LAL) Deficiency in the United States (US), access to sebelipase alfa (recombinant lysosomal acid…
- Trial name
- NCT02376751
- Testing
- sebelipase alfa
- Sponsor
- Alexion Pharmaceuticals, Inc.
Fabry Disease, Alpha Galactosidase A Deficiency
Study of the Effects of Fabrazyme Treatment on Lactation and Infants
The study was planned for up to 2 years (24 months). Planned full participation for both mother and infant was 24 months, planned full participation of mother and development of infant was 24 months, while planned full…
- Trial name
- NCT00230607
- Testing
- agalsidase beta
- Where
- 5 sites in United States, Austria and 1 more
- Volunteers
- 7 people
- Sponsor
- Genzyme, a Sanofi Company
Fabry Disease
Study Based on Electronic Health RecOrds to Identify Patients at High-risk of Fabry DiseasE (HOPE Fabry)
Primary objective: To estimate the prevalence of patients who are at high-risk for Fabry Disease (FD) in the Cleveland Clinic, Abu Dhabi (CCAD) United Arab Emirates (EMR) database from May 2016 to May 2022, according to the…
- Trial name
- NCT05671770
- Where
- United Arab Emirates
- Volunteers
- 15 people
- Sponsor
- Sanofi
MPS IIIB (Sanfilippo B Syndrome)
Evaluation of Blood Brain Barrier Integrity and Structural Abnormalities in MPS IIIB Patients Using Multimodal Magnetic Resonance Imaging
The purpose of the study is to characterize structural abnormalities in the brain and the integrity of the blood brain barrier in patients with mucopolysaccharidosis type IIIB (MPS IIIB).
- Trial name
- NCT02090179
- Where
- United Kingdom
- Volunteers
- 5 people
- Sponsor
- Alexion Pharmaceuticals, Inc.
Hunter Syndrome
Long-term Evaluation on Height and Weight in Patients With MPS II Who Started Treatment at < 6 Years of Age
This long-term study will provide Elaprase treatment to children enrolled in this study and will utilize data from both enrolled patients and Hunter Outcome Survey (HOS) patient registry data to conduct the primary growth…
- Trial name
- NCT02455622
- Testing
- Elaprase for intravenous (IV) infusion
- Where
- 8 sites in United States, Dominican Republic and 6 more
- Volunteers
- 21 people
- Sponsor
- Shire
Fabry Disease
Safety and Pharmacokinetics of AT1001 (Migalastat HCl) in Healthy Subjects and Subjects With Impaired Renal Function
This study will assess the safety, tolerability, and pharmacokinetics (PK) study of a single dose of 150 mg AT1001 (migalastat HCl, GR181413A) administered orally to healthy subjects with normal renal function and to subjects…
- Trial name
- NCT01730469
- Testing
- AT1001 150 mg
- Where
- 4 sites in United States
- Volunteers
- 32 people, healthy volunteers welcome
- Sponsor
- Amicus Therapeutics
Gaucher Disease
A Survey to Assess Participants', Caregivers', and Nurses' Use and Understanding of Educational Material on Velaglucerase Alfa (VPRIV) Home Infusion
The main purpose of this survey is to determine participants', caregivers', and nurses' understanding and use of educational materials (EM) on VPRIV home treatment.
- Trial name
- NCT05669729
- Volunteers
- 60 people
- Sponsor
- Takeda
Fabry Disease
A Study of the Safety and Efficacy of Fabrazyme in Patients With Fabry Disease
People with Fabry disease have an alteration in their genetic material (DNA) which causes a deficiency of the a-galactosidase A enzyme.
- Trial name
- NCT00074971
- Testing
- Fabrazyme (agalsidase beta)
- Where
- 20 sites in United States, France and 3 more
- Volunteers
- 58 people
- Sponsor
- Genzyme, a Sanofi Company
Fabry Disease
A Study of Replagal in Treatment-naïve Adults With Fabry Disease
In this study, adults with Fabry Disease who have not had any treatment for this condition will be treated with Replagal. The main aim of the study is to check if Replagal improves kidney function and heart structure of…
- Trial name
- NCT04840667
- Testing
- REPLAGAL
- Where
- 28 sites in Canada, Finland and 6 more
- Volunteers
- 17 people
- Sponsor
- Shire
Metachromatic Leukodystrophy
Allogeneic Stem Cell Transplantation for the Treatment of Multiple Sclerosis (Compassionate Use)
A subject was treated under compassionate use provisions under this study with facilitating cell therapy (FCRx) product manufactured using the CliniMACS (Miltenyi Biotec) device, rather than the Max Sep (Baxter) device.
- Trial name
- NCT02084121
- Testing
- Enriched Hematopoetic Stem Cell Infusion
- Where
- United States
- Sponsor
- Talaris Therapeutics Inc.
Gaucher's Disease
A Study to Evaluate Pharmacokinetic Parameters of Eliglustat in Healthy Volunteers Who Are CYP2D6 Extensive or Poor Metabolizers
The primary objective of the study is to evaluate dose proportionality and pharmacokinetics for three different dose levels of eliglustat after single and repeated administration.
- Trial name
- NCT06188325
- Testing
- Eliglustat
- Where
- United States
- Volunteers
- 18 people, healthy volunteers welcome
- Sponsor
- Sanofi
Gaucher Disease
A Study Measuring Substances Potentially Indicating Bone Problems in Adults With Type 1 Gaucher Condition
Substances in the body, so-called biomarkers, can help predict the severity of Gaucher disease (GD)-related bone problems in adults.
- Trial name
- NCT05702814
- Testing
- No Intervention
- Where
- Spain
- Volunteers
- 125 people, healthy volunteers welcome
- Sponsor
- Takeda
Lysosomal Acid Lipase Deficiency
Safety and Efficacy Study of Sebelipase Alfa in Participants With Lysosomal Acid Lipase Deficiency
This study evaluated the safety and efficacy of sebelipase alfa in a broad population of participants with lysosomal acid lipase deficiency (LAL-D).
- Trial name
- NCT02112994
- Testing
- Sebelipase Alfa
- Where
- 19 sites in United States, Australia and 13 more
- Volunteers
- 31 people
- Sponsor
- Alexion Pharmaceuticals, Inc.
Pompe's Disease
Study to Evaluate Efficacy and Safety in Chinese Patients With Late Onset Pompe Disease With Alglucosidase Alfa Treatmen
Primary Objective: To evaluate the effect of one-year Alglucosidase alfa treatment on motor function [Six-minute walk test (6MWT) and lung function predicted Forced vital capacity (FVC)] among Chinese Late Onset Pompe Disease…
- Trial name
- APOLLO-LOPD (NCT04676373)
- Testing
- ALGLUCOSIDASE ALFA
- Where
- China
- Volunteers
- 41 people
- Sponsor
- Genzyme, a Sanofi Company