Clinical trials: Storage Disease
Fabry Disease, Fabry Disease, Cardiac Variant
Fabry Disease in High-risk Patients With Left Ventricular Hypertrophy: Prevalence and Implementation of a Clinical Score
This study aims to evaluate the prevalence of Fabry Disease (FD) among a cohort of high risk patients with left ventricular hypertrophy (LVH) presenting at the University Hospital Würzburg over the last 20 years.
- Conditions
- Fabry Disease, Fabry Disease, Cardiac Variant, Lysosomal Storage Diseases, HCM - Hypertrophic Cardiomyopathy
- Trial name
- FAPREV-HCM (NCT04943991)
- Testing
- blood sampling (alpha-Galactosidase & LysoGb3)
- Where
- Germany
- Volunteers
- 200 people
- Sponsor
- Wuerzburg University Hospital
Poisoning, Safety Issues
Evaluating the Impact of a Safe Medication Storage Device
Despite the initial success of the 1970s Poison Prevention Packaging Act, the incidence of pediatric medication poisonings in the United States remains high.
- Conditions
- Poisoning, Safety Issues, Accidents Injury
- Trial name
- NCT04729894
- Testing
- Medication Lockbox, Education
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- Binghamton University
Mucopolysaccharidoses
Respiratory Cathepsins, Proteases Inhibitors and Glycosaminoglycans (GAG) in Mucopolysaccharidosis
Mucopolysaccharidosis (MPS) are a group of inherited, metabolic diseases caused by a deficiency of lysosomal enzymes that degrade glycosaminoglycans (GAGs).
- Trial name
- RespiGAG (NCT04112602)
- Testing
- Sputum, Tracheal aspiration
- Where
- 7 sites in France
- Volunteers
- 27 people
- Sponsor
- University Hospital, Tours
Sickle Cell Disease, Thalassemia
Effects of Transfusion of Older Stored Red Cells
The purpose of this study is to determine the effects of transfusion of fresh and stored blood on patients. The investigators hope to test: whether a similar effect (older stored blood is associated with worse outcomes) is seen…
- Trial name
- NCT01534676
- Testing
- Transfusion, Blood, Chelation therapy
- Where
- United States
- Volunteers
- 3 people, healthy volunteers welcome
- Sponsor
- Columbia University
Fabry Disease
A Study of Agalsidase Alfa Enyzme Replacement Therapy in Chinese Children and Adults With Fabry Disease
Fabry Disease is a rare blood disorder that some people are born with. People with Fabry disease have low levels of an enzyme called alpha-galactosidase A. This enzyme helps to cut down fat-like substances.
- Trial name
- NCT07187440
- Testing
- No intervention
- Where
- 18 sites in China
- Volunteers
- 200 people
- Sponsor
- Takeda
Fabry Disease, Fabry Disease, Cardiac Variant
Fabry Exercise Intolerance Study
Patients and healthy controls will undergo cardiopulmonary exercises and testing of the muscles strength to gain additional understanding of exercise intolerance as Fabry disease (FD) manifestation.
- Trial name
- FEISTY (NCT05413876)
- Testing
- Intermittent cardiopulmonary exercise test, Incremental cardiopulmonary exercise test
- Where
- Netherlands
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- Academisch Medisch Centrum - Universiteit van Amsterdam (AMC-UvA)
Mucopolysaccharidosis I, Mucopolysaccharidosis II
Clinical Trial of Growth Hormone in MPS I, II, and VI
The purpose of this study is to determine whether growth hormone is a safe and effective treatment for short stature in children with Mucopolysaccharidosis type I, II, and VI.
- Conditions
- Mucopolysaccharidosis I, Mucopolysaccharidosis II, Mucopolysaccharidosis VI
- Trial name
- NCT00748969
- Testing
- Somatropin (DNA origin)
- Where
- United States
- Volunteers
- 2 people
- Sponsor
- Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center
Conservative Management, Diabetes Mellitus
Effects of Conservative Management on Relieving Storage Urinary Symptoms and Poor Sleep in Women With Diabetes
Women with type 2 diabetes (n=90) experiencing ≥1 storage lower urinary tract symptoms and poor sleep health will be recruited from the outpatient departments or wards/units of the selected hospitals/clinics.
- Conditions
- Conservative Management, Diabetes Mellitus, Health-related Quality of Life, Lower Urinary Tract Symptoms
- Trial name
- NCT05869734
- Testing
- Sleep health promotion, Urologic health promotion, Pelvic floor muscle training
- Where
- Taiwan
- Volunteers
- 90 people
- Sponsor
- National Yang Ming Chiao Tung University
End-stage Liver Disease
Using Ex-vivo Normothermic Machine Perfusion With the Organox Metra™ Device to Store Human Livers for Transplantation
This trial will examine the safety and feasibility of using the OrganOx Metra device to transport and store donor livers under normothermic conditions prior to transplantation.
- Trial name
- NCT02478151
- Testing
- OrganOx Metra
- Where
- Canada
- Volunteers
- 40 people
- Sponsor
- University Health Network, Toronto
Pompe Disease, Glycogen Storage Disease II
Pompe Telemedicine Developmental Study
The primary purpose of this study is to: Document the developmental outcomes of individuals with Pompe disease treated with long-term enzyme-replacement therapy (ERT) through school-age (ages 6-18) using measures of cognitive…
- Trial name
- NCT02950298
- Where
- United States
- Volunteers
- 22 people
- Sponsor
- Duke University
Gaucher Disease
A Phase I Study to Compare Abcertin and EU-sourced Cerezyme® in Healthy Volunteers
Primary Objective: To compare the pharmacokinetics of Abcertin to the reference product, EU-sourced Cerezyme, after single intravenous administration of 60 IU/kg.
- Trial name
- NCT04787887
- Testing
- Abcertin, EU-sourced Cerezyme
- Where
- Australia
- Volunteers
- 42 people, healthy volunteers welcome
- Sponsor
- ISU Abxis Co., Ltd.
MPS IV A
A Double-Blind Study to Evaluate the Efficacy and Safety of BMN 110 in Patients With Mucopolysaccharidosis IVA (Morquio A Syndrome)
This Phase 3 study will evaluate the efficacy and safety of 2.0 mg/kg/week BMN 110 and 2.0 mg/kg/every other week BMN 110 in patients with mucopolysaccharidosis IVA (Morquio A Syndrome).
- Trial name
- NCT01275066
- Testing
- BMN 110 Weekly, BMN 110 Every Other Week
- Where
- 28 sites in United States, Argentina and 15 more
- Volunteers
- 177 people
- Sponsor
- BioMarin Pharmaceutical
Achondroplasia
A Study Of Safety, Tolerability And Effectiveness Of Recifercept In Children With Achondroplasia
Approximately 63 participants will be randomized to one of three doses to receive Recifercept either Low Dose Medium Dose High Dose Participants will will attend the clinic at baseline and at Day 1, 4, 8, 15, 29 \& then Month 2…
- Trial name
- NCT04638153
- Testing
- Recifercept
- Where
- 16 sites in United States, Australia and 6 more
- Volunteers
- 60 people
- Sponsor
- Pfizer
Alzheimer's Disease, Brain Neoplasm
PET Scan of Brain Metabolism in Relation to Age and Disease
The main source of energy for the brain comes from a combination of oxygen and glucose (sugar). For brain cells to function normally they must receive a constant supply of these nutrients.
- Conditions
- Alzheimer's Disease, Brain Neoplasm, Niemann Pick Disease
- Trial name
- NCT00001972
- Testing
- 15 O Water
- Where
- United States
- Volunteers
- 123 people, healthy volunteers welcome
- Sponsor
- National Institute of Neurological Disorders and Stroke (NINDS)
Fabry Disease
A Study to Evaluate the Effect of Venglustat Tablets on Neuropathic and Abdominal Pain in Male and Female Participants ≥16 Years of Age With Fabry Disease
This is a 12-month, parallel treatment, Phase 3, double-blind, randomized, placebo-controlled study to evaluate the effect of venglustat on neuropathic and abdominal pain symptoms of Fabry disease in participants ≥16 years of age…
- Trial name
- PERIDOT (NCT05206773)
- Testing
- Venglustat (GZ402671)
- Where
- 50 sites in United States, Argentina and 19 more
- Volunteers
- 122 people
- Sponsor
- Sanofi
Human Immunodeficiency Virus Type 1
A Study to Evaluate the Pharmacokinetic Effects of Different Storage Conditions for a Long-Acting Nanosuspension of Rilpivirine on Pharmacokinetics
The purpose of this study is to compare the single-dose pharmacokinetics of rilpivirine (RPV) after intramuscular (IM) injection of rilpivirine long-acting parenteral formulation (RPV-LA) and 'aged' RPV-LA, in healthy adult…
- Trial name
- NCT02547870
- Testing
- Rilpivirine (RPV), Rilpivirine Long-Acting Parenteral Formulation (RPV-LA), Aged RPV-LA
- Where
- Belgium
- Volunteers
- 61 people, healthy volunteers welcome
- Sponsor
- Janssen Infectious Diseases BVBA
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
Gaucher Disease
A Clinical Study for the Treatment of Pediatric and Adolescent Patients With Type 1 Gaucher Disease
The purpose of this study was to evaluate the safety, tolerability, efficacy, immunogenicity, PD and PK characteristics of LY-M001 injection in children with GD1 aged 6 years ≤ age < 18 years.
- Trial name
- NCT06528080
- Testing
- LY-M001
- Where
- China
- Volunteers
- 3 people
- Sponsor
- Shanghai Jiao Tong University School of Medicine
Fabry Disease
Safety and Efficacy Study of Several Replagal Dosing Regimens on Cardiac Function in Adults With Fabry Disease
The purpose of this study is to compare the safety and effectiveness of various doses of Replagal in patients with cardiomyopathy due to Fabry disease.
- Trial name
- NCT00864851
- Testing
- Replagal
- Where
- 12 sites in United States, Australia and 6 more
- Volunteers
- 44 people
- Sponsor
- Shire
Glycogen Storage Disease Type Ia
A Phase 1/2, Dose-Exploration Study to Evaluate the Safety and Efficacy of BEAM-301 in Patients With Glycogen Storage Disease Type Ia (GSDIa)
This is a Phase 1/2, multicenter, open-label, single-ascending-dose study to evaluate the safety, tolerability, and efficacy of BEAM-301 in adult patients with GSDIa homozygous or compound heterozygous for the G6PC1 c.247C>T…
- Trial name
- NCT06735755
- Testing
- BEAM-301: Single dose of BEAM-301 administered by IV
- Where
- 3 sites in United States
- Volunteers
- 36 people
- Sponsor
- Beam Therapeutics Inc.
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