Clinical trials: Storage Disease
Mucopolysaccharidosis I, Hurler's Syndrome
Phase 3 Extension Study of the Safety and Efficacy of Aldurazyme® (Laronidase) in Mucopolysaccharidosis I (MPS I) Patients
This study is being conducted to collect additional long-term efficacy and safety data of Aldurazyme® (laronidase) patients with MPS I disease.
- Conditions
- Mucopolysaccharidosis I, Hurler's Syndrome, Hurler-Scheie Syndrome, Scheie Syndrome
- Trial name
- NCT00146770
- Testing
- Aldurazyme
- Where
- 25 sites in United States, Brazil and 5 more
- Volunteers
- 45 people
- Sponsor
- Genzyme, a Sanofi Company
Fabry Disease
A Long Term Safety and Efficacy Study of Fabrazyme Replacement Therapy in Japanese Patients With Fabry Disease.
The purpose of this survey is to identify any concerns regarding the following efficacy and safety-related issues in clinical practice with the new drugs "Fabrazyme for intravenous infusion 5mg" and "Fabrazyme for intravenous…
- Trial name
- NCT00233870
- Testing
- Agalsidase beta (recombinant form)
- Where
- Japan
- Volunteers
- 405 people
- Sponsor
- Genzyme, a Sanofi Company
Sphingolipidoses, Enzyme Deficiency
SPL Insufficiency Syndrome (SPLIS)/NPHS14: a SPLIS Observational Study and Patient Registry (International)
This protocol aims to gather information about sphingosine phosphate lyase insufficiency syndrome (SPLIS), also known as NPHS14, and to create a SPLIS patient registry.
- Trial name
- SPLIS-OSPRI (NCT04885179)
- Testing
- no intervention
- Where
- United States
- Volunteers
- 120 people, healthy volunteers welcome
- Sponsor
- University of California, San Francisco
Fabry Disease, Lysosomal Storage Diseases
A Long Term Follow-Up Study of Fabry Disease Subjects Treated With FLT190
Fabry disease is a rare, X-linked inborn error of glycosphingolipid metabolism caused by an abnormal gene encoding the α-galactosidase A (αGLA) enzyme.
- Trial name
- NCT04455230
- Testing
- FLT190
- Where
- 2 sites in Germany, United Kingdom
- Volunteers
- 3 people
- Sponsor
- Spur Therapeutics
Galactosialidosis
Characterization of the Patient Population With Galactosialidosis
The late infantile form of galactosialidosis is potentially amenable to treatment by gene transfer with an adeno-associated viral vector encoding Protective Protein Cathepsin A (PPCA) or by infusion of purified protein.
- Trial name
- CPPGAL (NCT01416467)
- Where
- United States
- Volunteers
- 3 people
- Sponsor
- St. Jude Children's Research Hospital
Glycogen Storage Diseases
'Glycogen Storage Diseases (GSDs) in Indian Children- Establishing an Indian GSD (I-GSD) Registry'
Glycogen storage disorders (GSD) are a class of inborn metabolic abnormalities characterized by enzymatic defects in glycogen production or breakdown and are one of commonest metabolic disorders of the childhood.
- Trial name
- I-GSD (NCT06396546)
- Where
- 37 sites in India
- Volunteers
- 250 people
- Sponsor
- Institute of Liver and Biliary Sciences, India
Severe Combined Immunodeficiency, Malignancy, Hematologic
Long Term Follow Up Of Patients Who Have Received Gene Therapy Or Gene Marked Products
This protocol (GENEFU) provides a mechanism for the 15-year followup period that the FDA requires for all participants in gene transfer protocols and assures that adequate followup can be maintained for a wide variety of…
- Conditions
- Severe Combined Immunodeficiency, Malignancy, Hematologic, Neuroblastoma, Neoplasm
- Trial name
- NCT00695279
- Testing
- Venipuncture
- Where
- United States
- Volunteers
- 41 people
- Sponsor
- St. Jude Children's Research Hospital
Mucopolysaccharidosis Type IIIA, Mucopolysaccharidosis Type IIIB
Natural History Studies of Mucopolysaccharidosis III
The purpose of this study is to assess rates of decline in motor and cognitive functional measures, and to assess potential biomarkers, in order to identify potential outcome measure appropriate for use in therapeutic clinical…
- Trial name
- NCT02037880
- Testing
- Lumbar puncture, Magnetic Resonance Imaging (MRI) of the brain
- Where
- United States
- Volunteers
- 25 people
- Sponsor
- Nationwide Children's Hospital
Ornithine Transcarbamylase Deficiency, Wilson Disease
Adeno-Associated Virus (AAV) Antibody Study in Subjects OTC Deficiency, GSDIa, and Wilson Disease
The objective of this observational study is to evaluate the seroprevalence of anti-AAV antibodies in subjects with Ornithine Transcarbamylase (OTC) deficiency, Glycogen Storage Disease Type Ia (GSDIa), and Wilson Disease
- Conditions
- Ornithine Transcarbamylase Deficiency, Wilson Disease, Glycogen Storage Disease Type IA
- Trial name
- NCT04909346
- Where
- 5 sites in United States, Brazil and 3 more
- Volunteers
- 51 people
- Sponsor
- Ultragenyx Pharmaceutical Inc
Mucopolysaccharidosis III-A
Phase I/II Study of JR-441 in Patients With Mucopolysaccharidosis Type IIIA
A Phase I/ II, open-label, randomized, 2-arm study, designed to evaluate the safety and explore efficacy of the study drug in development for the treatment of MPS IIIA patients.
- Trial name
- NCT06095388
- Testing
- JR-441
- Where
- Germany
- Volunteers
- 15 people
- Sponsor
- JCR Pharmaceuticals Co., Ltd.
Irritable Bowel Syndrome, Digestive System Diseases
Efficacy of a Multi-strain Probiotic in the Treatment of Irritable Bowel Syndrome (IBS)
The Canadian College of Naturopathic Medicine is conducting a research study on Irritable Bowel Syndrome (IBS), a common condition in North America.
- Conditions
- Irritable Bowel Syndrome, Digestive System Diseases, Colonic Diseases, Functional, Colitis, Mucous
- Trial name
- NCT01176227
- Testing
- Kyodophilus multi-strain probiotic capsules
- Where
- Canada
- Volunteers
- 128 people
- Sponsor
- The Canadian College of Naturopathic Medicine
Fabry Disease
An Open-Label Maintenance Study of the Enzyme Replacement Therapy Replagal in Patients With Fabry Disease
This study will continue to evaluate the safety of using intravenous doses of Replagal for two patients with Fabry disease. Fabry disease is a genetic disorder inherited as an X-linked recessive trait.
- Trial name
- NCT00357786
- Testing
- Replagal agalsidase alfa, Replagal
- Where
- United States
- Volunteers
- 3 people
- Sponsor
- National Institute of Neurological Disorders and Stroke (NINDS)
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
Sanfilippo Syndrome, Mucopolysaccharidosis III
Study of Cannabidiol in Sanfilippo Syndrome
The goal of this clinical trial is to test cannabidiol in Sanfilippo syndrome. The main questions it aims to answer are: 1) determine the safety of cannabidiol in Sanfilippo syndrome, and 2) explore the efficacy of cannabidiol in…
- Trial name
- NCT06333041
- Testing
- Epidiolex
- Where
- United States
- Volunteers
- 35 people
- Sponsor
- Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center
Achondroplasia
Interventional Study of Infigratinib in Children < 3 Years Old With Achondroplasia (ACH)
This is a Phase 2, multicenter, randomized, placebo-controlled study to evaluate the safety and efficacy of infigratinib in participants < 3 years old with ACH.
- Trial name
- NCT07169279
- Testing
- Infigratinib is provided as a single dose of minitablets for oral administration, Infigratinib is provided as sprinkle capsules for daily oral administration
- Where
- 12 sites in United States, Australia and 5 more
- Volunteers
- 77 people
- Sponsor
- QED Therapeutics, a BridgeBio company
Duchenne Muscular Dystrophy, Pompe Disease (Late-onset)
Study Determining the Frequency of Duchenne Muscular Dystrophy and Late-onset Pompe Disease
This is a multicenter prospective non-drug screening study. The working period is 12 months. There is no research product to be followed or used in the study.
- Trial name
- VICTORIA (NCT04120168)
- Testing
- Laboratory Tests
- Where
- 51 sites in Turkey (Türkiye)
- Volunteers
- 590 people
- Sponsor
- Turkish Society of Pediatric Gastroenterology, Hepatology and Nutrition
Gaucher Disease
Exploration of Immunity in Gaucher Disease
Gaucher disease (GD), the inherited deficiency of the lysosomal enzyme glucocerebrosidase is characterized with accumulation of abnormal lipid in cells of the immune system, called macrophages.
- Trial name
- NCT01358188
- Where
- United States
- Volunteers
- 33 people, healthy volunteers welcome
- Sponsor
- O & O Alpan LLC
Kidney Failure, Chronic, Kidney Transplantation
Drone Transport of Deceased-Donor Kidney Grafts Between Two French Hospitals Before Transplantation: a Pilot Safety Study
Cold ischemia time, the period during which a donated kidney is kept cold outside the body between its removal from the donor and its transplantation into the recipient, is one of the main modifiable factors influencing how…
- Conditions
- Kidney Failure, Chronic, Kidney Transplantation, Delayed Graft Function, Cold Ischemia
- Trial name
- RAfALREIN (NCT07851571)
- Testing
- Kidney graft transport by autonomous unmanned aircraft (drone) between the procurement and transplantation centres
- Volunteers
- 5 people
- Sponsor
- Nantes University Hospital
Gaucher's Disease Type I
A Study to Evaluate Absolute Bioavailability, Absorption, Metabolism, and Excretion of Genz-112638 in Healthy Male Participants
Objectives: To determine pharmacokinetic (PK) variables, including absolute bioavailability (F), of Genz-99067, the free base of the L-tartaric acid salt of Genz-112638 as it exists in plasma, after a single intravenous (IV) dose…
- Trial name
- NCT06143904
- Testing
- Genz-112638, [14C]-Genz-112638
- Volunteers
- 10 people, healthy volunteers welcome
- Sponsor
- Sanofi
MPS IVA, MPS VI
Safety and Efficacy of Voxzogo for Growth Deficits in MPS IVA and VI
This is a Phase I/II, single arm, open label study of vosoritide therapy provided subcutaneously at 15 ug/kg/day for 96 weeks to 6 patients with MPS IVA or VI.
- Trial name
- NCT05845749
- Testing
- Vosoritide Injection [Voxzogo]
- Where
- United States
- Volunteers
- 6 people
- Sponsor
- University of California, San Francisco
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