Clinical trials: Storage Disease
Melanoma
Sample Collection From Melanoma Patients
The goal of this laboratory research study is to collect blood and tumor samples from patients with malignant melanoma. Researchers want to store these samples in a secure and confidential laboratory at M. D. Anderson.
- Trial name
- NCT00507325
- Testing
- Blood Sample, Tumor Sample
- Where
- United States
- Volunteers
- 131 people
- Sponsor
- M.D. Anderson Cancer Center
Gangliosidoses, GM1 Gangliosidosis
Registry Gangliosidoses
The clinical project "Eight At One Stroke: Attention Gangliosidoses" represents a clinical registry for recording the clinical manifestation and the disease progression of gangliosidoses.
- Conditions
- Gangliosidoses, GM1 Gangliosidosis, Morquio B Disease, Sialidosis
- Trial name
- NCT04624789
- Where
- Germany
- Volunteers
- 40 people
- Sponsor
- SphinCS Lyso Gemeinnutzige UG (Haftungsbeschrankt)
Glycogen Storage Disease Type II
Clinical Study for Treatment-naïve IOPD Babies to Evaluate Efficacy and Safety of ERT With Avalglucosidase Alfa
This is a single group, treatment, Phase 3, open-label study to assess efficacy, safety, pharmacokinetic (PK), pharmacodynamics (PD) of avalglucosidase alfa in treatment-naïve male and female participants with IOPD.
- Trial name
- Baby-COMET (NCT04910776)
- Testing
- avalglucosidase alfa
- Where
- 16 sites in United States, Belgium and 7 more
- Volunteers
- 17 people
- Sponsor
- Sanofi
Niemann-Pick Type C Disease
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 (NPC)
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
- Trial name
- NCT07082725
- Testing
- Nizubaglustat
- Where
- 34 sites in United States, Argentina and 13 more
- Volunteers
- 72 people
- Sponsor
- Azafaros B.V.
Prevention of Chronic Disease, Prevention and Control
The Value of Our Health
El Valor de Nuestra Salud [The Value of Our Health] is a 5-year study (2010-2014) involving grocery stores in San Diego County funded by the National Cancer Institute.
- Conditions
- Prevention of Chronic Disease, Prevention and Control, Diet
- Trial name
- NCT01475526
- Testing
- El Valor de Nuestra Salud Store Intervention
- Where
- United States
- Volunteers
- 370 people
- Sponsor
- San Diego State University
Gaucher Disease
Phase 3b Study to Evaluate Skeletal Response to Eliglustat in Adult Patients Who Completed Phase 2 or Phase 3 Studies
Primary Objective: Evaluate long term skeletal response to eliglustat in adult participants who successfully completed one of the Phase 2 or Phase 3 eliglustat studies.
- Trial name
- EXOSKEL (NCT02536755)
- Testing
- Eliglustat, GZ385660
- Where
- 4 sites in Canada, Russia and 1 more
- Volunteers
- 31 people
- Sponsor
- Genzyme, a Sanofi Company
Gaucher Disease, Parkinson Disease
World Data on Ambroxol for Patients With GD and GBA Related PD
Ambroxol hydrochloride is an oral mucolytic drug available over-the-counter for many years as cough medicine. In 2009 it was found to also act as a pharmacological chaperone (PC) for mutant glucocerebrosidase, albeit in a…
- Conditions
- Gaucher Disease, Parkinson Disease, GBA Gene Mutation
- Trial name
- NCT04388969
- Where
- 3 sites in Israel
- Volunteers
- 300 people
- Sponsor
- Shaare Zedek Medical Center
Gaucher Disease, HCV
Chronic Hepatitis C Treatment in Egyptian Children With Gaucher Disease.
This prospective open label study is designed to screen all available Gaucher disease patients [either on enzyme replacement therapy (ERT) or not] for hepatitis C virus (HCV) infection.
- Trial name
- NCT03721627
- Testing
- Ledipasvir/Sofosbuvir
- Where
- Egypt
- Volunteers
- 10 people
- Sponsor
- Mansoura University Children Hospital
Fabry Disease
T1 Mapping in Fabry Disease
Fabry disease (OMIM-301500, FD) is a lysosomal storage disease with X-linked inheritance secondary to mutations in the α-galactosidase A gene (GLA), which cause absence or decreased activity of the lysosomal hydrolase…
- Trial name
- MAP-FAB (NCT05923788)
- Testing
- T1 mapping measurement
- Where
- France
- Volunteers
- 70 people
- Sponsor
- Hospices Civils de Lyon
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
Achondroplasia
A Study to Evaluate the Efficacy and Safety of Infigratinib in Children and Adolescents With Achondroplasia
This is a Phase 3, multicenter, double-blind, randomized, placebo-controlled study to evaluate the efficacy and safety of infigratinib in children and adolescents with achondroplasia (ACH) who have completed at least 26 weeks of…
- Trial name
- PROPEL3 (NCT06164951)
- Testing
- Infigratinib 0.25 mg/kg/day
- Where
- 27 sites in United States, Argentina and 8 more
- Volunteers
- 114 people
- Sponsor
- QED Therapeutics, a BridgeBio company
Achondroplasia
Study of Infigratinib in Children With Achondroplasia
This is a Phase 2, multicenter, open-label, dose-escalation and dose-expansion study to evaluate the safety, tolerability, and efficacy of infigratinib, a fibroblast growth factor receptor (FGFR) 1-3-selective tyrosine kinase…
- Trial name
- NCT04265651
- Testing
- Infigratinib 0.016 mg/kg, Infigratinib 0.032 mg/kg, Infigratinib 0.064 mg/kg
- Where
- 19 sites in United States, Australia and 4 more
- Volunteers
- 84 people
- Sponsor
- QED Therapeutics, a BridgeBio company
Glycogen Storage Disease
Study of Glycogen Storage Disease Expression in Carriers
The purpose of the study is to determine whether carrier status for any type of glycogen storage disease (GSD) predisposes the carrier to GSD markers, like high cholesterol, by testing blood, urine, and saliva samples.
- Trial name
- NCT02057731
- Testing
- Glycogen Storage Disease markers
- Where
- United States
- Volunteers
- 114 people
- Sponsor
- University of Florida
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
Hereditary Spastic Paraparesis
Testing Miglustat Administration in Subjects With Spastic Paraplegia 11
Hereditary spastic paraparesis type 11 (SPG11) is caused by mutations in the SPG11 gene that produces spatacsin, a protein involved in lysosomal function.
- Trial name
- TreatSPG11 (NCT04768166)
- Testing
- Miglustat 100 MG
- Where
- Italy
- Volunteers
- 10 people
- Sponsor
- IRCCS Fondazione Stella Maris
Cerebrovascular Accident, Fabry Disease
Vasodilation in Patients With Fabry's Disease
Fabry's disease a genetic disorder (X-linked recessive) due to the absence of the enzyme alpha-galactosidase A. The disease is characterized by abnormal collections of glycolipids in cells (histiocytes) within blood vessel walls…
- Conditions
- Cerebrovascular Accident, Fabry Disease, Healthy
- Trial name
- NCT00001774
- Where
- United States
- Volunteers
- 48 people, healthy volunteers welcome
- Sponsor
- National Institute of Neurological Disorders and Stroke (NINDS)
Gaucher Disease
A Study to Evaluate and Characterize the Effect of Pharmacological Chemicals on Blood From Patients With Gaucher Disease
Gaucher disease is a lysosomal storage disorder resulting from a deficiency in the key enzyme b-glucocerebrosidase (GCase). This enzyme is responsible for breaking down a specialized type of fat molecule, known as…
- Trial name
- NCT00465062
- Where
- United States
- Volunteers
- 50 people
- Sponsor
- National Institute of Neurological Disorders and Stroke (NINDS)
Gaucher Disease, Type 1
An Open-Label Extension Study of GA-GCB ERT in Patients With Type 1 Gaucher Disease
The purpose of this study is to evaluate the long-term safety of every other week dosing of Gene-Activated® human glucocerebrosidase (GA-GCB, velaglucerase alfa) intravenously in patients with type 1 Gaucher disease.
- Trial name
- NCT00635427
- Testing
- VPRIV®
- Where
- 21 sites in United States, Argentina and 9 more
- Volunteers
- 95 people
- Sponsor
- Shire
Glycogen Storage Disease Type II
High Protein and Exercise Therapy Plus Nocturnal Enteral Feeding in Juvenile-onset Pompe Disease
The research protocol will be submitted for approval to the institutional review board of Columbia University Medical Center. An attempt will be made to recruit at least 6 juvenile patients between the ages of 8 and 17…
- Trial name
- NCT01656590
- Testing
- High Protein and Exercise Therapy along-with Nocturnal Enteral Feeding
- Where
- United States
- Sponsor
- Columbia University
Pompe Disease (Late-onset)
A Study About Antibody Levels and Biomarkers in the Blood in People With Late-onset Pompe Disease
Pompe disease is a genetic condition which causes muscle weakness over time. People with Pompe disease have a faulty gene that makes an enzyme called acid alpha-glucosidase (or GAA).
- Trial name
- NCT06150820
- Testing
- No Intervention
- Where
- 53 sites in United States, Australia and 9 more
- Volunteers
- 119 people
- Sponsor
- Astellas Gene Therapies
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