Clinical trials: Storage Disease
Hunter Syndrome
A Safety and Dose Ranging Study of Idursulfase (Intrathecal) Administration Via an Intrathecal Drug Delivery Device in Pediatric Patients With Hunter Syndrome Who Have Central Nervous System Involvement and Are Receiving Treatment With Elaprase®
Elaprase (idursulfase), a large molecular protein, is not expected to cross the blood brain barrier at therapeutic levels when administered intravenously.
- Trial name
- NCT00920647
- Testing
- Control, Idursulfase IT (1 mg), Idursulfase IT (10 mg)
- Where
- 3 sites in United States, United Kingdom
- Volunteers
- 16 people
- Sponsor
- Shire
McArdle Disease
Ketogenic Diet Survey in Patients With McArdle Disease (GSDV)
The purpose of this survey is to report experiences with variants of a ketogenic diet in a group of individuals diagnosed with McArdle disease (glycogen storage disease type V).
- Trial name
- NCT04694547
- Testing
- There is no intervention, as this is a survey study
- Where
- Denmark
- Volunteers
- 200 people
- Sponsor
- Nicoline Løkken
Fabry Disease
Study of the Safety and Efficacy of PRX-102 Compared to Agalsidase Beta on Renal Function
This was a randomized, double-blind, active control study of the enzyme replacement therapy (ERT) drug PRX-102 (pegunigalsidase alfa) in Fabry disease patients with impaired renal function.
- Trial name
- BALANCE (NCT02795676)
- Testing
- PRX-102 (pegunigalsidase alfa), agalsidase beta
- Where
- 29 sites in United States, Czechia and 10 more
- Volunteers
- 78 people
- Sponsor
- Protalix
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
Glycogen Storage Disease Type II, Pompe Disease
A Study of the Safety and Pharmacokinetics of rhGAA in Siblings With Glycogen Storage Disease Type II
GSD-II (also known as Pompe disease) is caused by a deficiency of a critical enzyme in the body called acid alpha-glucosidase (GAA).
- Conditions
- Glycogen Storage Disease Type II, Pompe Disease, Acid Maltase Deficiency Disease, Glycogenosis 2
- Trial name
- NCT00051935
- Testing
- Alglucosidase alfa
- Where
- United States
- Volunteers
- 2 people
- Sponsor
- Genzyme, a Sanofi Company
Hypochondroplasia
Prospective Clinical Assessment Study in Children With Hypochondroplasia
This is a long-term, multicenter, non-interventional study of children ages 2.5 to <17 years with hypochondroplasia (HCH).
- Trial name
- HCH (NCT06410976)
- Where
- 25 sites in United States, Australia and 8 more
- Volunteers
- 150 people
- Sponsor
- QED Therapeutics, a BridgeBio company
Enzyme Replacement Therapy in Pompe Disease
Cardiopulmonary Exercise Test to Quantify Enzyme Replacement Response in Pediatric Pompe Disease
Introduction: Enzyme replacement therapy (ERT) with Myozyme improved the prospect of Pompe disease patients. Our aim was to evaluate ERT acute effect on exercise capacity in pediatric Pompe patients.
- Trial name
- NCT03147664
- Volunteers
- 5 people
- Sponsor
- Rambam Health Care Campus
Danon Disease
Natural History of Danon Disease
This is a multicenter, international, non-interventional, natural history study designed to collect longitudinal retrospective clinical information on patients with Danon disease (DD).
- Trial name
- NCT05548855
- Testing
- Heart Transplant, Cardiac Assistive Device
- Where
- 15 sites in Czechia, France and 3 more
- Volunteers
- 59 people
- Sponsor
- Rocket Pharmaceuticals Inc.
MPS I
Ascending Dose Study of Genome Editing by the Zinc Finger Nuclease (ZFN) Therapeutic SB-318 in Subjects With MPS I
The purpose of the study is to evaluate the safety, tolerability of ascending doses of SB-318. SB-318 is an intravenously delivered Zinc Finger Nuclease (ZFN) Therapeutic for genome editing.
- Trial name
- NCT02702115
- Testing
- SB-318
- Where
- United States
- Volunteers
- 3 people
- Sponsor
- Sangamo Therapeutics
Healthy
Pregabalin and Colonic Function
This study is being done to evaluate the effects of pregabalin, a drug approved for anticonvulsive therapy and for neuropathic pain, on colonic and sensory functions in healthy individuals.
- Trial name
- NCT01094808
- Testing
- Pregabalin, Bowel preparation
- Where
- United States
- Volunteers
- 62 people, healthy volunteers welcome
- Sponsor
- Mayo Clinic
Blood Coagulation Disorders
Study of Megakaryocytes From Patients With Abnormal Platelet Vesicles
Congenital bleeding disorders characterized by abnormal platelet granules include Gray Platelet syndrome (GPS; defective alpha-granules), Hermansky-Pudlak syndrome (HPS; defective delta-granules), and combined alpha delta-storage…
- Trial name
- NCT00086476
- Where
- United States
- Volunteers
- 3 people
- Sponsor
- National Human Genome Research Institute (NHGRI)
Mucopolysaccharidosis IIIB
Safety, Pharmacokinetics, and Pharmacodynamics/Efficacy of SBC-103 in Mucopolysaccharidosis III, Type B (MPS IIIB)
Study to evaluate the safety and tolerability of intravenous (IV) administration of SBC-103 in participants with mucopolysaccharidosis III, type B (MPS IIIB, Sanfilippo B) with evaluable signs or symptoms of developmental delay.
- Trial name
- NCT02324049
- Testing
- SBC-103
- Where
- 4 sites in United States, Spain and 1 more
- Volunteers
- 11 people
- Sponsor
- Alexion Pharmaceuticals, Inc.
Gangliosidoses GM2
Pharmacokinetics and Tolerability of Zavesca® (Miglustat) In Patients With Juvenile GM2 Gangliosidosis
The purpose of the study is to investigate the pharmacokinetics of Zavesca (miglustat, OGT918) when given as single and multiple doses in juvenile patients with GM2 gangliosidosis.
- Trial name
- NCT00418847
- Testing
- miglustat
- Where
- Canada
- Volunteers
- 5 people
- Sponsor
- The Hospital for Sick Children
Psychiatric Adults Patients
Screening of Niemann-Pick Disease, Type C in a Psychiatric Population
Niemann-Pick disease, Type C is a rare genetic disorder characterized by a failing in intracellular cholesterol transport, inducing an accumulation of sphingolipids in the brain.
- Trial name
- NPCPsy (NCT02841358)
- Testing
- Blood sampling, Biopsy
- Where
- France
- Volunteers
- 22 people
- Sponsor
- University Hospital, Grenoble
Fabry Disease
Autoimmune and Inflammatory Response Biomarkers in Fabry Disease
The goal of this observational study is to understand the immune response in Fabry disease (FD). We want to find out how the immune response is related to the severity of FD and how it affects patients' quality of life and pain.
- Trial name
- Bio-FAIR (NCT06007768)
- Where
- Spain
- Volunteers
- 32 people, healthy volunteers welcome
- Sponsor
- Fundacion para la Investigacion Biomedica del Hospital Universitario Ramon y Cajal
Mucopolysaccharidosis IVA, Morquio A Syndrome
BMN 110 US Expanded Access Program
The Expanded Access Program (EAP) is an open-label, multicenter program to: 1. Provide patients who have been diagnosed with Mucopolysaccharidosis IVA (MPS IVA) access to BMN 110 until commercial product is available 2.
- Conditions
- Mucopolysaccharidosis IVA, Morquio A Syndrome, MPS IVA
- Trial name
- NCT01858103
- Testing
- BMN 110
- Where
- 25 sites in United States, Puerto Rico
- Sponsor
- BioMarin Pharmaceutical
Pompe Disease
Newborn Screening Assay of Pompe's Disease
The purpose of this study is to test the feasibility of a newborn screen assay for Pompe disease
- Trial name
- NCT01758354
- Testing
- Pompe disease newborn screening
- Where
- Taiwan
- Volunteers
- 236,536 people, healthy volunteers welcome
- Sponsor
- National Taiwan University Hospital
Mucopolysaccharidosis VI
Study of Recombinant Human N-acetylgalactosamine 4-sulfatase (rhASB) in Patients With MPS VI
The purpose of the study is to evaluate the ability of rhASB versus placebo to enhance endurance in patients with Mucopolysaccharidosis VI (MPS VI), as evidenced by an increase in the number of meters walked in the 12 minute walk…
- Trial name
- NCT00067470
- Testing
- N-acetylgalactosamine 4-sulfatase
- Where
- United States
- Volunteers
- 39 people
- Sponsor
- BioMarin Pharmaceutical
Gaucher Disease
Gaucher Disease Outcome Survey (GOS)
The Gaucher Outcomes Survey (GOS) is an ongoing observational, international, multi-center, long-term Registry of Patients with Gaucher Disease irrespective of their treatment status or type of treatment received.
- Trial name
- NCT03291223
- Where
- United States
- Volunteers
- 1,257 people
- Sponsor
- Shire
Lower Urinary Tract Symptoms, Female Genitourinary Disease
Efficacy of Vaginal 17β-Estradiol on the Urinary Storage Symptoms in Postmenopausal Women
The goal of this clinical trial is to evaluate whether vaginal 17β-estradiol effectively treats storage symptoms of lower urinary tract symptoms (LUTS) and enhances quality of life.
- Conditions
- Lower Urinary Tract Symptoms, Female Genitourinary Disease, Urinary Stress Incontinence, Urinary Urge Incontinence
- Trial name
- NCT06508944
- Testing
- vaginal 17 beta-estradiol, Behavioral modifications
- Where
- Thailand
- Volunteers
- 86 people
- Sponsor
- Mahidol University
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