Clinical trials: Storage Disease
GM1 Gangliosidosis, GM2 Gangliosidosis
Natural History Study for Pediatric Patients With Early Onset of Either GM1 Gangliosidosis, GM2 Gangliosidoses, or Gaucher Disease Type 2
This study is being conducted to better understand the natural course of GM1 gangliosidosis, GM2 gangliosidoses and Gaucher disease Type 2 (GD2).
- Conditions
- GM1 Gangliosidosis, GM2 Gangliosidosis, Gaucher Disease, Type 2, Tay-Sachs Disease
- Trial name
- RETRIEVE (NCT04470713)
- Where
- 17 sites in United States, Belgium and 8 more
- Volunteers
- 226 people
- Sponsor
- Idorsia Pharmaceuticals Ltd.
Fabry Disease
Cardiac Involvement in Adult Patients With Fabry Disease; Relation to Enzyme Replacement Therapy
The purpose of this study was to assess the progression of cardiac involvement in adult patients with Fabry Disease (FD), in the unique Danish Fabry cohort and comparing those FD patients receiving primary therapy vs.
- Trial name
- NCT02908724
- Volunteers
- 66 people
- Sponsor
- Ulla Feldt-Rasmussen
Fabry Disease
Understanding Fabry Disease Therapy Choices Through the Eyes of the Patients
The objective of this study is to increase the understanding surrounding the choices presented to patients and families impacted by Fabry disease.
- Trial name
- NCT04804566
- Testing
- This is a non-interventional study
- Where
- United States
- Volunteers
- 44 people
- Sponsor
- Amicus Therapeutics
Hermanski-Pudlak Syndrome, Colitis
Medical Treatment of Colitis in Patients With Hermansky-Pudlak Syndrome
This study will determine if medical treatment of colitis (inflammation of the colon resulting in loose bowel movements, rectal bleeding, and belly pain) that is used for other colitis conditions, such as Crohn's disease and…
- Conditions
- Hermanski-Pudlak Syndrome, Colitis, Cytokines, Lymphocytes
- Trial name
- NCT00514982
- Testing
- Mesalamine, Infliximab, Corticosteroids
- Where
- United States
- Sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)
Glycogen Storage Disease Type I, Glycogen Storage Disease Type IB
Effects of the Carbohydrate Counting Method on Blood Glucose Regulation, Quality of Life, Urinary Glc4 and Other Biomarkers in Children With GSD1
The goal of the study is to investigate the effects of carbohydrate counting training-administered to pediatric patients diagnosed with GSD 1a and 1b-on blood glucose regulation, quality of life, urinary glucotetrasaccharide…
- Conditions
- Glycogen Storage Disease Type I, Glycogen Storage Disease Type IB, Glycogen Storage Disease Type IA
- Trial name
- NCT07875023
- Where
- Turkey (Türkiye)
- Volunteers
- 8 people
- Sponsor
- Şükrü Arman AKSOY
Fabry Disease
Sophisticated Assessment of Disease Burden in Patients With Fabry Disease
To detect early signs of cardiac and metabolic alterations as well as to evaluate the progression of cardiac and metabolic impairments in mildly affected patients with Fabry Disease using high sensitive diagnostic methods.
- Trial name
- SOPHIA (NCT01210196)
- Testing
- MRI
- Where
- 11 sites in Belgium, Czechia and 4 more
- Volunteers
- 36 people
- Sponsor
- Shire
Gaucher Disease
Multicenter Extension Study of Velaglucerase Alfa in Japanese Patients With Gaucher Disease
Gaucher disease is an inherited deficiency of the lysosomal enzyme glucocerebrosidase (GCB) that leads to progressive accumulation of glucocerebroside within macrophages and subsequent tissue and organ damage; typically of the…
- Trial name
- NCT01842841
- Testing
- velaglucerase alfa
- Where
- 5 sites in Japan
- Volunteers
- 5 people
- Sponsor
- Shire
Gaucher Disease
Advancing Integrated Therapies for Gaucher Disease
The purpose of this study is to better understand the natural history, clinical outcomes, and biological features of Gaucher disease in patients receiving standard medical care
- Trial name
- NCT07758816
- Where
- United States
- Volunteers
- 30 people
- Sponsor
- Yale University
Mucopolysaccharidosis III-A
A Natural History Study of Biomarkers and Clinical Outcomes in Mucopolysaccharidosis Type IIIA (MPS IIIA; Sanfilippo Syndrome)
This protocol is a decentralized, single cohort, natural history and biomarker study enrolling up to 20 participants with MPS IIIA (Sanfilippo syndrome).
- Trial name
- NCT05523206
- Testing
- No intervention
- Where
- United States
- Volunteers
- 15 people
- Sponsor
- Sanguine Biosciences
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
Fabry Disease
Switch Over Study of Biosimilar Agalsidase Beta for Fabry Disease
BIO-AGA-Fase III-001 is a Phase III, prospective, multicenter, open-label, single-group, baseline-controlled, switch over clinical trial to evaluate the efficacy and safety of AGA BETA BS in patients with FD already treated and…
- Trial name
- SMILE (NCT05843916)
- Testing
- Recombinant human alpha galactosidase A (agalsidase beta), Recombinant human alpha-galactosidase A (agalsidase beta)
- Where
- 5 sites in Argentina
- Volunteers
- 20 people
- Sponsor
- Bio Sidus SA
Fabry Disease
French Prospective, Observational Cohort Study of Patients With Fabry Disease Treated With Migalastat
This is a noninterventional cohort study to evaluate the effects of migalastat, on long-term safety, effectiveness, and quality of life (QOL) in patients with Fabry disease.
- Trial name
- NCT04602364
- Testing
- Noninterventional
- Where
- 13 sites in France
- Volunteers
- 48 people
- Sponsor
- Amicus Therapeutics France SAS
GM1 Gangliosidosis
Interviews and Video Capture in Patients With GM1 Gangliosidosis
GM1 gangliosidosis is a rare disease for which there is a limited understanding of disease progression and meaningful outcome measures.
- Trial name
- NCT04310163
- Testing
- Natural history
- Where
- United States
- Volunteers
- 25 people
- Sponsor
- LYSOGENE
MPS I, MPS II
PEARL (PrEnAtal Enzyme Replacement Therapy for Lysosomal Storage Disorders)
For detailed information, please view our study website: https://pearltrial.ucsf.edu/ The investigators aims to determine the the maternal and fetal safety and feasibility of in utero fetal enzyme replacement therapy in fetuses…
- Conditions
- MPS I, MPS II, MPS IVA, MPS VI
- Trial name
- PEARL (NCT04532047)
- Testing
- Aldurazyme (laronidase)
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- University of California, San Francisco
Treatment Resistant Hypertension
Endocalyx in Treatment Resistent Hypertension
The goal of this randomized, double-blind, placebo-controlled study is to assess whether the food supplement Endocalyx lowers blood pressure in patients with treatment resistant hypertension.
- Trial name
- GLYCO-TRH (NCT06940011)
- Testing
- Endocalyx Pro
- Where
- Netherlands
- Volunteers
- 64 people
- Sponsor
- Academisch Medisch Centrum - Universiteit van Amsterdam (AMC-UvA)
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
Glycogen Storage Disease Type II Late Onset, Pompe Disease (Late-onset)
Safety and Efficacy of Avalglucosidase Alfa in Patients With Non-classic Pompe Disease Aged ≥ 5 Years
The goal of this clinical trial is to study the efficacy and safety of treatment with avalglucosidase alfa in patients with late onset Pompe disease that previously deteriorated on alglucosidase alfa.
- Conditions
- Glycogen Storage Disease Type II Late Onset, Pompe Disease (Late-onset), Pompe Disease Late-Onset, Pompe's Disease Juvenile Onset
- Trial name
- AVA (NCT07652814)
- Testing
- Avalglucosidase Alfa
- Where
- Netherlands
- Volunteers
- 6 people
- Sponsor
- Iris Plug
Pompe Disease
Safety and Efficacy of Albuterol in Individuals With Late-onset Pompe Disease
In this study the study team proposes to investigate the efficacy of albuterol on motor function of individuals with Late Onset Pompe Disease (LOPD) who are receiving enzyme replacement therapy, given albuterol was well-tolerated…
- Trial name
- NCT01885936
- Testing
- Albuterol
- Where
- United States
- Volunteers
- 16 people
- Sponsor
- Duke University
Hemorrhage, Platelets; Defect
Extended Cold Stored Apheresis Platelets in Cardiac Surgery Patients
This trial is being performed to evaluate the feasibility of the study protocol and to test the efficacy and safety of platelets stored at cold conditions (1-6°C) in 100% plasma for 10-14 days (CSP) in cardiac surgery patients…
- Conditions
- Hemorrhage, Platelets; Defect, Bleeding, Surgical Blood Loss
- Trial name
- CHASE (NCT05220787)
- Testing
- Cold stored platelets in 100% plasma stored for 10-14 days, Room temperature stored platelets in 100% plasma stored for up to 7 days
- Where
- United States
- Volunteers
- 30 people
- Sponsor
- Moritz Stolla, MD
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.