Clinical trials: Lysosomal Storage Diseases
Fabry Disease
Open-Label Extension Study of the Long-Term Effects of Migalastat HCL in Patients With Fabry Disease
This is an open-label extension study intended to provide continued treatment with migalastat hydrochloride (HCl) for participants with Fabry disease who completed treatment of a previous migalastat HCl study.
- Trial name
- NCT02194985
- Testing
- migalastat HCl 150 mg
- Where
- 28 sites in United States, Argentina and 13 more
- Volunteers
- 84 people
- Sponsor
- Amicus Therapeutics
Glycogen Storage Disease Type II, Pompe Disease
A Study of the Safety and Pharmacokinetics of rhGAA in Siblings With Glycogen Storage Disease Type II
GSD-II (also known as Pompe disease) is caused by a deficiency of a critical enzyme in the body called acid alpha-glucosidase (GAA).
- Conditions
- Glycogen Storage Disease Type II, Pompe Disease, Acid Maltase Deficiency Disease, Glycogenosis 2
- Trial name
- NCT00051935
- Testing
- Alglucosidase alfa
- Where
- United States
- Volunteers
- 2 people
- Sponsor
- Genzyme, a Sanofi Company
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.
Pompe Disease
Safety/Tolerability/Pharmacokinetic (PK)/Pharmacodynamics (PD) Study of BMN701 in Patients With Late-Onset Pompe Disease
A Phase 1/2, open-label, multicenter, multiple dose escalation study of BMN 701 administered by intravenous infusion every 2 weeks over a 24-week treatment period to patients with late-onset Pompe disease.
- Trial name
- NCT01230801
- Testing
- BMN 701
- Where
- 10 sites in United States, Australia and 3 more
- Volunteers
- 22 people
- Sponsor
- BioMarin Pharmaceutical
Gaucher's Disease
Study to Evaluate Efficacy and Safety of Imiglucerase Treatment in Chinese Patients With Gaucher Disease Type Ⅲ
Primary Objective To evaluate the efficacy on hematologic manifestations of imiglucerase treatment in Chinese patients who are diagnosed as Gaucher disease type Ⅲ To evaluate the safety profile of imiglucerase in maximum dose in…
- Trial name
- SEED (NCT04656600)
- Testing
- Cerezyme® / Imiglucerase
- Where
- 5 sites in China
- Volunteers
- 12 people
- Sponsor
- Sanofi
Gaucher Disease
Implementation and Evaluation of a Rare Disease Algorithm to Identify Persons at Risk of Gaucher Disease Using Data From Electronic Health Records (EHRs) in the United States (Project Searchlight)
This is a three-phase study comprising both retrospective and prospective components, as follows: Phase I: Deployment of Rare Disease Algorithm: A diagnostic screening algorithm was developed using advanced analytical methods to…
- Trial name
- NCT05908656
- Testing
- Investigational procedure
- Where
- 3 sites in United States
- Volunteers
- 13 people
- Sponsor
- Sanofi
Mucopolysaccharidosis IVA, Morquio A Syndrome
Efficacy and Safety Study of BMN 110 for Morquio A Syndrome Patients Who Have Limited Ambulation
The primary objective of this study is to evaluate the effect of 2.0 mg/kg/week BMN 110 in a patient population that has limited ambulation, in a period of up to 144 weeks.
- Conditions
- Mucopolysaccharidosis IVA, Morquio A Syndrome, MPS IVA
- Trial name
- NCT01697319
- Testing
- BMN 110
- Where
- 7 sites in United States, Germany and 1 more
- Volunteers
- 16 people
- Sponsor
- BioMarin Pharmaceutical
SEDC, Hypochondrogenesis
A Natural History Study in Children With a Type II Collagen Disorder With Short Stature
There are relatively few data available on type II collagen disorders, and evidence is lacking on the disease course in relation to symptoms and development of complications, the level of actual disease burden over time as well…
- Conditions
- SEDC, Hypochondrogenesis, Semd, Strudwick Type, Kniest Dysplasia
- Trial name
- ROCKET (NCT05408715)
- Testing
- Natural History Study
- Where
- 2 sites in France, Spain
- Volunteers
- 60 people
- Sponsor
- Innoskel
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.
Glycogen Storage Disease Type II, Pompe's Disease
China Post-approval Commitment (PAC) Study of Avalglucosidase Alfa in Participants With IOPD
This is a single group, 52-week treatment, Phase 4, open-label, single-arm study to assess the safety and efficacy of avalglucosidase alfa IV infusion in male and female Chinese participants with IOPD who are treatment-naïve or…
- Trial name
- NCT06666413
- Testing
- Avalglucosidase alfa
- Where
- China
- Volunteers
- 13 people
- Sponsor
- Genzyme, a Sanofi Company
Fabry Disease, Pregnancy
Maternal and Postnatal Outcomes Study (MOS): A Global Observational Registry Assessing the Safety of Elfabrio® in Women With Fabry Disease and Their Infants During Pregnancy and Breastfeeding
The goal of this observational registry is to evaluate the safety and outcomes of pregnancy and lactation in women with Fabry disease who are exposed to pegunigalsidase alfa within 30 days prior to conception and/or during…
- Conditions
- Fabry Disease, Pregnancy, Pregnancy Complications
- Trial name
- MOS (NCT06941025)
- Testing
- Not applicable- observational study
- Where
- 5 sites in United States, Germany and 3 more
- Volunteers
- 10 people
- Sponsor
- Chiesi Farmaceutici S.p.A.
Gaucher Disease
A Study of the Tolerability, Safety, and Pharmacokinetics of ISU302 in Healthy Volunteers
The purpose of this study is to assess the safety, tolerability, and pharmacokinetics of single dosing study with three ascending dose cohorts of ISU302 in healthy subjects.
- Trial name
- NCT01881633
- Testing
- ISU302
- Volunteers
- 24 people, healthy volunteers welcome
- Sponsor
- ISU Abxis Co., Ltd.
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.
Gaucher's Disease Type III
Study to Evaluate the Efficacy and Safety of Venglustat in Adult and Pediatric Patients With Gaucher Disease Type 3
This is a parallel arm, Phase 3, double-blind, double-dummy, active-comparator, 2 arm study to evaluate the efficacy and safety of daily oral venglustat versus intravenous Cerezyme infusions every two weeks for improvement or…
- Trial name
- LEAP2MONO (NCT05222906)
- Testing
- Venglustat, imiglucerase
- Where
- 22 sites in United States, Argentina and 9 more
- Volunteers
- 43 people
- Sponsor
- Sanofi
Gaucher Disease, Type 1
A Study of Eliglustat Tartrate (Genz-112638) in Patients With Gaucher Disease (ENGAGE)
This Phase 3 study was designed to confirm the efficacy and safety of eliglustat tartrate (Genz-112638) in participants with Gaucher disease Type 1.
- Trial name
- NCT00891202
- Testing
- Eliglustat tartrate
- Where
- 18 sites in United States, Bulgaria and 10 more
- Volunteers
- 40 people
- Sponsor
- Genzyme, a Sanofi Company
Gut Health
A Study to Evaluate the Effects of a Butyrate-Polyphenol Formulation on Gut Health and Associated Symptoms
The purpose of the study is to evaluate the efficacy of a butyrate/polyphenol formulation on modulation of the gut microbiome and gastrointestinal symptoms using questionnaires in individuals with self-reported gastrointestinal…
- Trial name
- NCT07371975
- Testing
- Butyrate + Polyphenol Formulation
- Where
- United States
- Volunteers
- 124 people, healthy volunteers welcome
- Sponsor
- Supplement Formulators, Inc.
Tay-Sachs Disease, Sandhoff Disease
A Multinational, Randomized, Double-blind, Placebo-controlled Study to Assess the Efficacy, Pharmacodynamics, Pharmacokinetics, and Safety of Venglustat in Late-onset GM2
Primary Objectives: Primary population (adult participants with late-onset GM2 gangliosidosis): To assess the efficacy and pharmacodynamics (PD) of daily oral dosing of venglustat when administered over a 104-week period…
- Trial name
- AMETHIST (NCT04221451)
- Testing
- venglustat GZ402671
- Where
- 23 sites in United States, Argentina and 11 more
- Volunteers
- 75 people, healthy volunteers welcome
- Sponsor
- Genzyme, a Sanofi Company
Gaucher Disease, Type 1
Treatment Protocol of Velaglucerase Alfa for Patients With Type 1 Gaucher Disease
Gaucher disease is a rare lysosomal storage disorder caused by the deficiency of the enzyme glucocerebrosidase (GCB). Due to the deficiency of functional GCB, glucocerebroside accumulates within macrophages leading to cellular…
- Trial name
- NCT00954460
- Testing
- velaglucerase alfa
- Where
- 32 sites in United States
- Sponsor
- Shire
Glycogen Storage Disease Type II
A Prospective, Observational Study in Patients With Late-Onset Pompe Disease
Pompe disease (also known as glycogen storage disease type II, "GSD-II") is caused by a deficiency of a critical enzyme in the body called acid alpha-glucosidase (GAA).
- Trial name
- NCT00077662
- Where
- 5 sites in United States, France and 1 more
- Volunteers
- 61 people
- Sponsor
- Genzyme, a Sanofi Company
Fabry Disease
Efficacy and Safety of Enzyme Replacement Therapy in Patients With Fabry Disease
The goal of this observational study is to learn how enzyme replacement therapy works in patients with Fabry disease. The main question it aims to answer is: What medical problems do participants have? Participants already on…
- Trial name
- FAVORIT (NCT06880250)
- Where
- 23 sites in Russia
- Volunteers
- 100 people
- Sponsor
- NPO Petrovax