Clinical trials: Storage Disease
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
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
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.
Alpha-Mannosidosis
Expanded Access to Velmanase Alfa
Individual patient expanded access requests may be considered for patients who have no other treatment options.
- Trial name
- NCT04959240
- Testing
- Velmanase Alfa
- Sponsor
- Chiesi Farmaceutici S.p.A.
Glycogen Storage Disease Type II Pompe Disease
Avalglucosidase Alfa Extension Study
Primary Objective: Long-term safety and pharmacokinetics (PK) of avalglucosidase alfa Secondary Objective: Long-term effect of avalglucosidase alfa on pharmacodynamic variables
- Trial name
- NEO-EXT (NCT02032524)
- Testing
- Avalglucosidase Alfa
- Where
- 17 sites in United States, Belgium and 5 more
- Volunteers
- 19 people
- Sponsor
- Genzyme, a Sanofi Company
Fabry Disease
Home Therapy With Replagal in Fabry Disease
The purpose of this study is to proof increasing patient satisfaction and preservation of quality of life in patients with Morbus Fabry disease receiving their Enzyme Replacement Therapy with Replagal (Agalsidase alfa) at home…
- Trial name
- NCT01355146
- Where
- 22 sites in Austria, Germany
- Volunteers
- 127 people
- Sponsor
- Shire
Fabry Disease
Observational Study on Long-term Use of Pegunigalsidase Alfa in Fabry Patients in a Real-world Setting
PEGASO is an observational study designed to collect prospective data on the effectiveness and safety of pegunigalsidase alfa in adult patients with Fabry disease, being treated or planning to start treatment, under real-world…
- Trial name
- PEGASO (NCT07109375)
- Testing
- pegunigalsidase alfa
- Where
- 7 sites in Italy
- Volunteers
- 75 people
- Sponsor
- Chiesi Italia
Sphingomyelin Lipidosis
Safety, Tolerability, PK, and Efficacy Evaluation of Repeat Ascending Doses of Olipudase Alfa in Pediatric Patients <18 Years of Age With Acid Sphingomyelinase Deficiency
Primary Objective: To evaluate the safety and tolerability of olipudase alfa administered intravenously in pediatric participants every 2 weeks for 64 weeks.
- Trial name
- ASCEND-Peds (NCT02292654)
- Testing
- Olipudase alfa
- Where
- 6 sites in United States, Brazil and 4 more
- Volunteers
- 20 people
- Sponsor
- Genzyme, a Sanofi Company
Non-muscle Invasive Bladder Cancer (NMIBC)
Hyaluronic Acid Sodium Salt and Hydeal-D in the Management of LUTS After TURBT for NMIBC.
This will be an open-label, prospective, single-centre, randomised, controlled, parallel-group medical device investigation. The investigational plan will include four visits in total at the investigational site.
- Trial name
- NCT06069453
- Testing
- Hyaluronic Acid (HA) sodium salt and Hydeal-D
- Where
- Italy
- Volunteers
- 54 people
- Sponsor
- Fidia Farmaceutici s.p.a.
Morquio Syndrome, Accumulation of Mucopolysaccharides
Biomarker for Morquio Disease (BioMorquio)
Development of a new MS-based biomarker for the early and sensitive diagnosis of Morquio disease from plasma
- Conditions
- Morquio Syndrome, Accumulation of Mucopolysaccharides, Morquio Syndrome A, Morquio B Disease
- Trial name
- BioMorquio (NCT01457456)
- Where
- 5 sites in Egypt, Germany and 2 more
- Sponsor
- CENTOGENE GmbH Rostock
Gaucher Disease
A Multicenter Extension Study of Taliglucerase Alfa in Pediatric Subjects With Gaucher Disease
A protocol to extend the assessment of the safety and efficacy of taliglucerase alfa in pediatric subjects (2 to <18 years old) with symptoms and clinical manifestations of Gaucher disease who completed treatment in Protocols…
- Trial name
- NCT01411228
- Testing
- Taliglucerase alfa
- Where
- 3 sites in Israel, Paraguay and 1 more
- Volunteers
- 15 people
- Sponsor
- Pfizer
Pompe Disease (Late-Onset), Glycogen Storage Disease Type II (GSD II)
Study About the Evolution of Severe Late Onset Pompe Disease Patient With Pulmonary Dysfunction and Receiving Myozyme®
To describe severe late onset patients with pompe disease receiving Myozyme®
- Conditions
- Pompe Disease (Late-Onset), Glycogen Storage Disease Type II (GSD II), Glycogenesis 2 Acid Maltase Deficiency
- Trial name
- NCT00731081
- Where
- France
- Volunteers
- 8 people
- Sponsor
- Genzyme, a Sanofi Company
Benign Prostatic Hyperplasia
A Study to Track the Safety of Vesomni in Men in South Korea Treated in Routine Clinical Practice for the Urinary Symptoms of Benign Prostatic Hyperplasia (Enlarged Prostate)
Benign prostatic hyperplasia (BPH), also known as an enlarged prostate, happens more often in men as they age. This condition causes a sudden need to pass urine, which is hard to control.
- Trial name
- NCT07619105
- Testing
- Vesomni
- Volunteers
- 600 people
- Sponsor
- Astellas Pharma Korea, Inc.
MPS IIIA, Sanfilippo Syndrome
Gene Transfer Study of ABO-102 in Patients With Middle and Advanced Phases of MPS IIIA Disease
Open-label, clinical trial of scAAV9.U1a.hSGSH injected intravenously through a peripheral limb vein
- Conditions
- MPS IIIA, Sanfilippo Syndrome, Sanfilippo A, Mucopolysaccharidosis III
- Trial name
- NCT04088734
- Testing
- ABO-102
- Where
- 3 sites in United States, Australia and 1 more
- Volunteers
- 5 people
- Sponsor
- Ultragenyx Pharmaceutical Inc
Mucopolysaccharidosis I (MPS I)
Mucopolysaccharidosis I (MPS I) Registry
The Mucopolysaccharidosis I (MPS I) Registry is an ongoing, observational database that tracks the outcomes of patients with MPS I.
- Trial name
- NCT00144794
- Where
- 141 sites in United States, Argentina and 35 more
- Volunteers
- 1,406 people
- Sponsor
- Genzyme, a Sanofi Company
Hypochondroplasia
Open-Label, Long-Term, Extension Study of Infigratinib in Children With Hypochondroplasia
Phase 2, multicenter, OLE study to evaluate the long-term safety, tolerability, and efficacy of infigratinib, an FGFR (fibroblast growth factor receptor) 1-3-selective tyrosine kinase inhibitor, in participants with…
- Trial name
- NCT07393373
- Testing
- Infigratinib
- Where
- 24 sites in United States, Australia and 8 more
- Volunteers
- 135 people
- Sponsor
- QED Therapeutics, a BridgeBio company
Sanfilippo Syndrome Type A
Phase 1 Study of GC1130A in Patients With Sanfilippo Syndrome Type A (MPS IIIA)
The purpose of this study is to evaluate the safety, tolerability, efficacy, pharmacokinetics and pharmacodynamics of recombinant human heparan N-sulfatase (rhHNS, GC1130A) administered via intracerebroventricular access device…
- Trial name
- NCT06567769
- Testing
- GC1130A
- Where
- 4 sites in United States, South Korea
- Volunteers
- 9 people
- Sponsor
- GC Biopharma Corp