Clinical trials: Lysosomal Storage Disease
GM1 Gangliosidoses, GM2 Gangliosidoses
Synergistic Enteral Regimen for Treatment of the Gangliosidoses
The investigators hypothesize that a combination therapy using miglustat and the ketogenic diet for infantile and juvenile patients with gangliosidoses will create a synergy that 1) improves overall survival for patients with…
- Conditions
- GM1 Gangliosidoses, GM2 Gangliosidoses, Tay-Sachs Disease, Sandhoff Disease
- Trial name
- Syner-G (NCT02030015)
- Testing
- miglustat, Ketogenic Diet
- Where
- United States
- Volunteers
- 16 people
- Sponsor
- University of Minnesota
Gaucher Disease, Bone Diseases
Biomarkers Related to Bone in Pediatric Gaucher Disease
Aims of the observational study is to establish novel blood-based biomarkers for grading bone disease in pediatric patients with Gaucher disease (GD).
- Trial name
- NCT06116071
- Where
- United States
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- Lysosomal and Rare Disorders Research and Treatment Center, Inc.
Fabry Disease
A Safety and Efficacy Study of Fabrazyme® Replacement Therapy in Patients With Cardiac Fabry Disease
This is a multi-center, open label, phase IV study conducted to evaluate the efficacy and safety of agalsidase beta (Fabrazyme [recombinant form]) administered by intravenous drip infusion in participants with cardiac Fabry…
- Trial name
- NCT00140621
- Testing
- Agalsidase beta
- Where
- 7 sites in Japan
- Volunteers
- 6 people
- Sponsor
- Genzyme, a Sanofi Company
Hepato-splenomegaly, Dysostosis Multiplex
Biomarker for Gangliosidosis: BioGM1/BioGM2 (BioGM1/GM2)
Development of a new MS-based biomarker for the ear-ly and sensitive diagnosis of GM1/GM2 from blood
- Conditions
- Hepato-splenomegaly, Dysostosis Multiplex, Seizures, Mental Retardation
- Trial name
- BioGM1/BioGM2 (NCT02298647)
- Where
- 5 sites in Egypt, Germany and 2 more
- Sponsor
- CENTOGENE GmbH Rostock
Gas, Bloating
Assessment and Validation of Electronic Gas and Bloating Diary
The investigator's goal is to improve the patient's compliance and accurate capture of patient reported gas and bloating symptoms, by utilizing a phone application that interactively records each gas and bloating event in…
- Conditions
- Gas, Bloating, Distension, Constipation
- Trial name
- NCT04684849
- Testing
- APP Diary, Paper Diary
- Where
- United States
- Volunteers
- 40 people, healthy volunteers welcome
- Sponsor
- Augusta University
Mucopolysaccharidosis I
Safety and Dose Ranging Study of Human Insulin Receptor MAb-IDUA Fusion Protein in Adults and Children With MPS I
AGT-181 is a fusion protein containing alpha-L-iduronidase that is intended to deliver the enzyme peripherally and to the brain, when administered intravenously.
- Trial name
- NCT03053089
- Testing
- AGT-181
- Where
- Brazil
- Volunteers
- 21 people
- Sponsor
- ArmaGen, Inc
Fabry Disease
A Study of Migalastat in Fabry Disease
Fabry disease is a rare metabolic condition characterised by the widespread deposition of sphingolipids in multiple organ systems.
- Trial name
- GALAFAB (NCT03949920)
- Testing
- Migalastat
- Where
- 2 sites in United Kingdom
- Volunteers
- 21 people
- Sponsor
- Manchester University NHS Foundation Trust
Aspartylglucosaminuria, Aspartylglucosamidase (AGA) Deficiency
Safety and Efficacy of scAAV9/AGA Gene Therapy in Participants With Aspartylglucosaminuria (AGU)
The goal of this clinical trial is to learn if the treatment is a safe, tolerable, and efficacious treatment for adults and children with Aspartylglucosaminuria (AGU).
- Trial name
- NCT07530796
- Testing
- scAAV9/AGA
- Where
- United States
- Volunteers
- 9 people
- Sponsor
- Rare Trait Hope
Alpha-Mannosidosis
Clinical Biomarkers in Alpha-mannosidosis
Background: Alpha-mannosidosis is a rare inherited disorder. It causes problems in many organs and tissues of the body. It can occur in children and adults.
- Trial name
- NCT02141503
- Where
- United States
- Volunteers
- 11 people
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Fabry Disease
PK/PD Study of 2 Agalsidase Formulations in Single Dose of 1 mg/kg Administered to Healthy Volunteers as IV Infusion
Pharmacokinetic/Pharmacodynamic Study of 2 agalsidase beta Formulations in Single Dose Administered to Healthy Volunteers as intravenous infusion, at a concentration of 1 mg/kg
- Trial name
- NCT05343715
- Testing
- Agalsidase beta from Biosidus 1 mg/kg, Fabrazyme (agalsidase beta) 1 mg/kg
- Where
- Argentina
- Volunteers
- 24 people, healthy volunteers welcome
- Sponsor
- Bio Sidus SA
Fabry Disease
Lipidomics and Functional Analyses of Platelets in Fabry Disease
This study aims to evaluate whether platelets are biochemically and functionally altered in Fabry disease (FD) and therefore possibly implicated in FD manifestations such as cerebrovascular events.
- Trial name
- NCT02649660
- Where
- 2 sites in Switzerland
- Volunteers
- 32 people, healthy volunteers welcome
- Sponsor
- Spital Linth
Mucopolysaccharidosis IVA, Morquio A Syndrome
Safety and Exercise Study of Two Doses of BMN 110 for Morquio A Syndrome
The primary objective of this study was to evaluate the safety of a 2.0 mg/kg/week and a 4.0 mg/kg/week of BMN 110 in patients with Morquio A syndrome for up to 196 weeks.
- Conditions
- Mucopolysaccharidosis IVA, Morquio A Syndrome, MPS IVA
- Trial name
- NCT01609062
- Testing
- BMN 110
- Where
- 11 sites in United States, Canada and 2 more
- Volunteers
- 25 people
- Sponsor
- BioMarin Pharmaceutical
Chronic Pain in the Extremities, Chronic Abdominal Pain
Screening for Fabry Disease in a Pediatric Population at Risk
The purpose of this study is to assess the frequency of Fabry disease in children with chronic abdominal pain or chronic pain in the extremities
- Conditions
- Chronic Pain in the Extremities, Chronic Abdominal Pain, Fabry Disease
- Trial name
- NCT02152189
- Testing
- Screening for Fabry disease
- Where
- Germany
- Volunteers
- 1,422 people
- Sponsor
- University Hospital Heidelberg
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
Pompe Disease (Late-onset), Myotonic Dystrophy Type 1 (DM1)
Musculoskeletal Nociceptive Pain in Participants With Neuromuscular Disorders
The primary aim is to characterize the prevalence, severity and quality of musculoskeletal nociceptive pain in adult patients with neuromuscular disorders (NMD).
- Conditions
- Pompe Disease (Late-onset), Myotonic Dystrophy Type 1 (DM1), Myotonic Dystrophy Type 2, Spinal Muscular Atrophy Type 3
- Trial name
- NCT04907162
- Testing
- Beck depression inventory fast screen, German Pain Inventory, Brief Pain Inventory
- Where
- Germany
- Volunteers
- 82 people, healthy volunteers welcome
- Sponsor
- LMU Klinikum
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.
GM2 Gangliosidosis, Tay Sachs Disease
Long-Term Follow-Up of Subjects Treated With AXO-AAV-GM2 for Tay-Sachs or Sandhoff Disease
This study is to continue Long-Term Follow-Up of Patients who were previously treated with AXO-AAV-GM2 Gene Therapy as treatment for Tay-Sachs or Sandhoff Disease to follow the subjects through 5 years after their initial gene…
- Conditions
- GM2 Gangliosidosis, Tay Sachs Disease, Sandhoff Disease
- Trial name
- NCT06614569
- Testing
- AXO-AAV-GM2
- Where
- United States
- Volunteers
- 7 people
- Sponsor
- Terence Flotte
Fabry Disease, Anderson Fabry Disease
Treatment-related Benefit and Satisfaction in Fabry Patients. Insight in Patients Expectations and Preferences
In the shared decision-making process, patients should express their expectations and preferences regarding treatment to the physician.
- Trial name
- NCT04043273
- Testing
- Noninterventional characterization of patients expectations and preferences regarding their treatment
- Where
- 15 sites in France
- Volunteers
- 69 people
- Sponsor
- Amicus Therapeutics France SAS
Gaucher Disease
An Open-Label, Dose Escalation Study to Evaluate the Safety and the Pharmacokinetics of Oral PRX-112
This is an open-label, dose escalation study to evaluate the safety of oral PRX-112 and pharmacokinetics of GCD in subjects with Gaucher disease naive to enzyme replacement therapy.
- Trial name
- NCT02107846
- Testing
- PRX-112
- Where
- Israel
- Volunteers
- 10 people
- Sponsor
- Protalix
Fibrodysplasia Ossificans Progressiva, FOP
A Study to Investigate the Safety, Pharmacokinetics (PK), and Efficacy of Garetosmab in Children and Adolescents With Fibrodysplasia Ossificans Progressiva (FOP)
This study is researching an experimental drug called garetosmab, referred to as "study drug". The study is focused on children and adolescent participants with FOP.
- Trial name
- OPTIMA-2 (NCT07559513)
- Testing
- garetosmab
- Volunteers
- 18 people
- Sponsor
- Regeneron Pharmaceuticals