Clinical trials: Storage Disease
Lysosomal Storage Disorders
Molecular and Cellular Mechanisms of Lysosomal Storage Diseases
The lysosome is a specialized part of the cell that functions to degrade metabolic wastes in the cell. Defects in the functioning of the lysosome result in accumulation and subsequent storage of such metabolic wastes.
- Trial name
- NCT02000310
- Where
- United States
- Volunteers
- 80 people, healthy volunteers welcome
- Sponsor
- O & O Alpan LLC
Pompe Disease
Dynamic Respiratory Muscle Function in Late-Onset Pompe Disease
This study intends to evaluate dynamic respiratory motor performance as a valuable measure of pulmonary function in adults with late-onset Pompe disease.
- Trial name
- DRMF (NCT02354664)
- Testing
- Thoracic MRI, Spirometry, Inspiratory Load Compensation
- Where
- United States
- Volunteers
- 14 people, healthy volunteers welcome
- Sponsor
- University of Florida
Nervous System Diseases
Cerebrospinal Fluid Collection and Repository Storage
Background: Cerebrospinal fluid (CSF) is the liquid around the brain and spinal cord. Many diseases can only be diagnosed by examining the CSF. A lumbar puncture is used to collect and test CSF.
- Trial name
- NCT01862107
- Where
- United States
- Volunteers
- 51 people, healthy volunteers welcome
- Sponsor
- National Institute of Neurological Disorders and Stroke (NINDS)
Lysosomal Storage Diseases
Cellular Pharmacodynamics of Small Molecules in Lysosomal Storage Disorders
The purpose of this study is to evaluate the effect of small molecule therapy in primary cells derived from patients with lysosomal storage disease.
- Trial name
- NCT03812055
- Where
- United States
- Volunteers
- 50 people, healthy volunteers welcome
- Sponsor
- Lysosomal and Rare Disorders Research and Treatment Center, Inc.
Mucopolysaccharidosis (MPS)
Physical Activity Intervention for MPS
Currently, treatments for mucopolysaccharidoses (MPS) are pharmacological and predominantly focus on the physical symptoms of the disease.
- Trial name
- NCT07449143
- Testing
- Interviews/focus groups/participatory workshops
- Where
- United Kingdom
- Volunteers
- 50 people, healthy volunteers welcome
- Sponsor
- Brunel University
Obesity
Maximal Fat Oxidation and Fuel Use During Exercise
Fat and carbohydrate are the two main energy stores available as fuel during exercise. It is well known that the exercise intensity and feeding status are the major factors determining the type of fuel used during exercise.
- Trial name
- NCT04678713
- Testing
- investigate the nutritional determinants of MFO in moderate to well-train individuals, Investigate the physiological determinants of MFO in moderate to well-train individuals
- Where
- Denmark
- Volunteers
- 40 people, healthy volunteers welcome
- Sponsor
- University of Copenhagen
Pompe-Disease
ERT in Pompe Disease: Elucidation of Molecular Structures Contributing to Enzyme Uptake and Immunoreactivity
In the first part of this study, the aim is to characterize the molecular structure of wildtype GAA and, in particular, of mutated GAA variants with and without HSAT, in order to learn how mutation impairs uptake of GAA into the…
- Trial name
- NCT05448131
- Where
- Germany
- Volunteers
- 50 people, healthy volunteers welcome
- Sponsor
- Centre for Analytical Biochemistry and Biomedical Mass Spectrometry
Gaucher Disease
Taste Evaluation of Different Liquid Formulations With Eliglustat
Primary Objective: The purpose of this study is to assess the palatability of eliglustat prototype liquid formulations in healthy subjects.
- Trial name
- NCT02422654
- Testing
- eliglustat
- Where
- United States
- Volunteers
- 8 people, healthy volunteers welcome
- Sponsor
- Genzyme, a Sanofi Company
Fabry Disease
Clinical Investigation on the Blood Oxygenation at the Optic Nerve Head in Fabry Patients
This study aimed to evaluate blood oxygenation at the optic nerve head in relation with visual field losses observed in many Fabry patients. Data collected allowed to evaluate if there is a link between these two entities.
- Trial name
- NCT02023086
- Testing
- Contrast sensitivity measurement, Slit Lamp assessment and intra-ocular pressure measurement, Visual field testing
- Where
- Canada
- Volunteers
- 8 people, healthy volunteers welcome
- Sponsor
- Université de Montréal
N-Acetylneuraminic Acid Storage Disease
Sialic Acid Supplementation in N-Acetylneuraminic Acid Synthase (NANS) Deficiency
This study is aimed at assessing the impact of short-term (3 days) exogenous sialic acid supplementation on endogenous biomarkers of sialic acid metabolism in NANS deficient patients.
- Trial name
- NCT03545568
- Testing
- Neu5Ac supplementation
- Where
- 2 sites in Italy, Switzerland
- Volunteers
- 10 people, healthy volunteers welcome
- Sponsor
- University of Lausanne
Skin Cancer, Screening
Evaluation of Store-and-Forward Teledermatology Versus a Face-to-Face Assessment During a Skin Cancer Screening Event
The purpose of this study is to determine the diagnostic and management concordance of face-to-face dermatologist versus a store-and-forward teledermatologist at a skin cancer screening event.
- Conditions
- Skin Cancer, Screening, Telemedicine
- Trial name
- NCT01820234
- Testing
- In-person dermatology evaluation, Store-and-forward teledermatology evaluation
- Where
- United States
- Volunteers
- 170 people, healthy volunteers welcome
- Sponsor
- University of California, Davis
Intentional Self-Harm by Other Specified Means
Comparison of Lethal Means Counseling and an Active Control Condition, With and Without Provision of Gun Locks
In 2013, the National Guard reported a suicide rate that was substantially higher than both the general population and the active duty component of the United States military.
- Trial name
- NCT03375099
- Testing
- Lethal Means Counseling, Health and Stress Reduction
- Where
- United States
- Volunteers
- 232 people, healthy volunteers welcome
- Sponsor
- University of Southern Mississippi
Cystinosis
A Cohort of Patients With Cystinosis : Compliance to Cysteamine and Neurological Complications
Preventing late onset of Cystinosis such as neurological complications and improving compliance to cysteamine treatment remain major challenges in management of subjects with cystinosis.
- Trial name
- Crystobs (NCT02012114)
- Testing
- Cysteamine bitartrate
- Where
- France
- Volunteers
- 65 people, healthy volunteers welcome
- Sponsor
- Hospices Civils de Lyon
Melanoma
A Storage Facility for Tissues Obtained From Patients With Malignant Melanoma
This study collects and stores blood and tumor samples from patients with malignant melanoma and healthy individuals. The purpose of this study is to gain a better understanding of the causes of melanoma and how melanoma tumors…
- Trial name
- NCT04567706
- Testing
- Biospecimen Collection
- Where
- United States
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- Ohio State University Comprehensive Cancer Center
Iron Deficiency
Donor Iron Deficiency Study - Red Blood Cells From Iron-deficient Donors: Recovery and Storage Quality
Primary Hypothesis The 24-hour post-transfusion RBC recovery of units obtained from donors exhibiting iron-deficient erythropoiesis will not meet FDA standards for clinical use.
- Trial name
- DIDS (NCT02889133)
- Testing
- Iron-dextran, Saline, Blood Donation
- Where
- United States
- Volunteers
- 79 people, healthy volunteers welcome
- Sponsor
- Columbia University
Fabry Disease
Migalastat Food Effect Study
A 5-period crossover study to evaluate the effect of meal type and timing on migalastat HCl pharmacokinetics in healthy male and female subjects.
- Trial name
- NCT01489995
- Testing
- A (migalastat), B (migalastat), C (migalastat)
- Where
- United States
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- Amicus Therapeutics
Obesity, Wolman Disease
Breakfast for Young Women
Investigators will in a crossover study test the health effects of eating a dairy-based protein-rich breakfast, isocaloric carbohydrate-rich breakfast or no breakfast in young overweight women.
- Conditions
- Obesity, Wolman Disease, Nutrition
- Trial name
- GoDag (NCT04652713)
- Testing
- Protein-rich breakfast, Carbohydrate-rich breakfast, No breakfast
- Where
- Denmark
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- University of Aarhus
Manual Lymphatic Drainage, Swedish Massage
Comparison of Acute Effect of Different Manual Techniques on Muscle Fascia Stiffness
There are studies investigating the effect of different massage methods on muscle fascia stiffness but the results do not support each other.
- Conditions
- Manual Lymphatic Drainage, Swedish Massage, Muscle Fascia Stiffness
- Trial name
- NCT04324775
- Testing
- Exercise + Manual Lymphatic Drainage, Exercise + Swedish massage
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- Marmara University
Lysosomal Acid Lipase Deficiency, Obesity
Metabolic Effects of Very Low Carbohydrate Ketogenic Diet in Subjects With Severe Obesity
The very low carbohydrates diet (VLCKD) induces liver steatosis amelioration. Lysosomal acid lipase (LAL) deficiency plays a role in fats accumulation in liver. To date, no studies have assessed LAL activity in morbid obesity.
- Conditions
- Lysosomal Acid Lipase Deficiency, Obesity, Ketogenic Dieting, Ketosis
- Trial name
- NCT03564002
- Where
- Italy
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- University Of Perugia
Orthodontic Appliance Complication
The Effects of Different Storage Conditions on Removable Retainers
Orthodontic removable retainers are appliances that hold the position of the upper and lower teeth after fixed braces treatment and they can be removed from a patient's mouth.
- Trial name
- NCT05854953
- Testing
- Hawley retainers in dry storage condition, Hawley retainers in wet storage condition, VFRs in dry storage condition
- Where
- Malaysia
- Volunteers
- 24 people, healthy volunteers welcome
- Sponsor
- University of Malaya