Clinical trials: Storage Disease
Cystinosis
New Cysteamine Eye Drops Formulation to Treat Corneal Crystals in Cystinosis
This study will evaluate the safety and effectiveness of a new formulation of eye drops used to treat cystine crystals that form in the corneas of patients with cystinosis.
- Trial name
- NCT00001736
- Testing
- Cysteamine
- Where
- United States
- Volunteers
- 51 people
- Sponsor
- National Eye Institute (NEI)
Mucopolysaccharidosis II
A Study of JR-141 in Patients With Mucopolysaccharidosis II
A Phase II/ III multicenter, open-label, single-group, designed to evaluate the efficacy and safety of study drug for the treatment of the MPS II.
- Trial name
- NCT03568175
- Testing
- JR-141
- Where
- 19 sites in Japan
- Volunteers
- 28 people
- Sponsor
- JCR Pharmaceuticals Co., Ltd.
Osteogenesis Imperfecta
Effects of Bisphosphonates on OI-Related Hearing Loss
Osteogenesis Imperfecta-related hearing loss usually occurs in individuals with mild (type I) OI and is much earlier in onset than age-related hearing loss, with the majority of individuals experiencing some minor hearing loss in…
- Trial name
- NCT04152551
- Testing
- Risedronate Oral Tablet
- Where
- United States
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- Hospital for Special Surgery, New York
Wet Age-related Macular Degeneration
Comparing Efficacy of 8-Week and 12-Week Faricimab Initial Follow-Up Treatment Intervals
This is a prospective, randomized study that compares 8-week and 12-week follow-up intervals after the 4 monthly injections in the loading phase.
- Trial name
- NCT06875245
- Testing
- Faricimab Injection
- Where
- Czechia
- Volunteers
- 100 people
- Sponsor
- Faculty Hospital Kralovske Vinohrady
Fabry Disease
Safety and Efficacy of PRX-102 in Patients With Fabry Disease Currently Treated With REPLAGAL® (Agalsidase Alfa)
This is an open label switch over study to assess the safety and efficacy of PRX-102 (pegunigalsidase alfa). Patients treated with agalsidase alfa for at least 2 years and on a stable dose (>80% labelled dose/kg) for at least 6…
- Trial name
- NCT03018730
- Testing
- PRX-102 (pegunigalsidase alfa)
- Where
- 9 sites in Australia, Canada and 5 more
- Volunteers
- 22 people
- Sponsor
- Protalix
Lafora Disease
Natural History and Functional Status Study of Patients With Lafora Disease
A natural history and functional status study to characterize the clinical disease course in Lafora disease patients using standardized, quantitative evaluations and to identify useful biomarkers and clinical outcome measures for…
- Trial name
- NCT03876522
- Where
- 4 sites in United States, Italy and 1 more
- Volunteers
- 33 people
- Sponsor
- Ionis Pharmaceuticals, Inc.
Late-onset Pompe Disease
A Study to Evaluate the Safety, Pharmacokinetics, and Pharmacodynamics of DNL952 in Adult Participants With Late-Onset Pompe Disease
This is a Phase 1, multicenter, open-label study to evaluate the safety, tolerability, pharmacokinetics (PK), and pharmacodynamics (PD) of DNL952 in adult participants with late-onset Pompe disease.
- Trial name
- NCT07354724
- Testing
- DNL952
- Where
- 4 sites in United States
- Volunteers
- 32 people
- Sponsor
- Denali Therapeutics Inc.
Mucopolysaccharidosis II
Iduronate-2-sulfatase Enzyme Replacement Therapy in Mucopolysaccharidosis II (MPS II)
The purpose of this study is to determine whether the administration of iduronate-2-sulfatase enzyme in a weekly or every other week therapy frequency is safe and efficacious in patients with MPS II.
- Trial name
- NCT00069641
- Testing
- Iduronate-2-sulfatase enzyme replacement therapy
- Where
- 9 sites in United States, Brazil and 2 more
- Volunteers
- 96 people
- Sponsor
- Shire
Metachromatic Leukodystrophy (MLD)
Direct Lentiviral Injection Gene Therapy for MLD
This is a Phase I/II clinical trial of gene therapy for treating Metachromatic leukodystrophy (MLD) using a safety and efficacy improved self-inactivating lentiviral vector TYF-ARSA to functionally correct the genetic defect.
- Trial name
- NCT03725670
- Testing
- Intrathecal and intravenous LV gene therapy
- Where
- China
- Volunteers
- 10 people
- Sponsor
- Shenzhen Geno-Immune Medical Institute
Liver Cancer
Biomarkers in Stored Tumor Samples From Younger Patients With Liver Cancer
RATIONALE: Studying samples of tumor tissue from patients with cancer in the laboratory may help doctors learn more about changes that occur in DNA and identify biomarkers related to cancer.
- Trial name
- NCT00899002
- Testing
- comparative genomic hybridization, molecular genetic technique, mutation analysis
- Sponsor
- Vanderbilt-Ingram Cancer Center
Metachromatic Leukodystrophy
Single Patient Expanded Access Protocol: Metabolic Boost
This is a single patient expanded access protocol to investigate the effects of a second dose of facilitating cell-enhanced hematopoietic stem cell product.
- Trial name
- Boost (NCT02021266)
- Testing
- Enriched Hematopoetic Stem Cell Infusion
- Where
- United States
- Sponsor
- Talaris Therapeutics Inc.
Morquio A Syndrome, Mucopolysaccharidosis IV A
Psychological Concomitants of Morquio A Syndrome - Longitudinal Effects of Enzyme Replacement Therapy (The MAPLE Study)
Mucopolysaccharidosis IV, also known as MPS IV or Morquio disease, is a rare autosomal recessive genetic lysosomal storage disorder.
- Trial name
- MAPLE (NCT02208661)
- Where
- United States
- Volunteers
- 12 people
- Sponsor
- Nadia Ali, PhD
Alpha-Mannosidosis
Interventional Study to Assess Efficacy and Safety of Velmanase Alfa in Patients With Alpha Mannosidosis
Randomized, double-blind, placebo-controlled, parallel group study where subjects will receive velmanase alfa or placebo for 24 weeks.
- Trial name
- SHAMAN (NCT04031066)
- Testing
- Velmanase Alfa
- Sponsor
- Chiesi Farmaceutici S.p.A.
Fabry Disease
4D-310 in Adults With Fabry Disease and Cardiac Involvement
This is a prospective multicenter, open-label, dose-escalation trial to assess the safety, tolerability, and pharmacodynamics of 4D-310 following a single IV administration.
- Trial name
- NCT05629559
- Testing
- 4D-310
- Where
- 4 sites in Australia, Taiwan
- Volunteers
- 18 people
- Sponsor
- 4D Molecular Therapeutics
Glycogen Storage Disease, Congenital Hyperinsulinism (CHI)
Continuous Glucose Monitoring Alerts, Accuracy, and Patient Outcomes in Adults With Inherited Metabolic Disorders
The goal of this clinical trial is to learn if a continuous glucose monitor (CGM) with predictive alerts works better than a CGM with standard alerts to prevent low blood sugar (hypoglycemia) in adults with inherited metabolic…
- Conditions
- Glycogen Storage Disease, Congenital Hyperinsulinism (CHI), Hypoglycemia
- Trial name
- NCT07614139
- Testing
- Continuous glucose monitor with threshold and predictive alerts (Dexcom G7), Continuous glucose monitor with threshold-only alerts (Dexcom ONE+)
- Where
- Italy
- Volunteers
- 11 people
- Sponsor
- University Hospital Padova
Fabry Disease
Fabry Patient's Experience Of PegunigaLsidasE Alfa Monthly Infusion
Pegunigalsidase alfa (PRX-102) is a long-term enzyme replacement therapy design for the treatment of patients with Fabry disease.
- Trial name
- PEOPLE (NCT05186324)
- Testing
- Interview
- Where
- 12 sites in United States, Belgium and 3 more
- Volunteers
- 23 people
- Sponsor
- Chiesi Farmaceutici S.p.A.
Fabry Disease
A Phase 1 Study To Evaluate the Safety of Migalastat Hydrochloride Given Intravenously to Healthy Volunteers
The purpose of this study is to evaluate the safety, tolerability, and pharmacokinetics of IV migalastat HCl alone and to determine absolute bioavailability for oral migalastat HCl as compared to IV administered migalastat HCl in…
- Trial name
- NCT02082327
- Testing
- IV migalastat HCl, oral migalastat HCl
- Where
- Netherlands
- Volunteers
- 31 people, healthy volunteers welcome
- Sponsor
- Amicus Therapeutics
Fabry Disease
Natural History and Structural Functional Relationships in Fabry Renal Disease Treatment Outcomes(Changes)in Fabry Renal Disease Study
The investigators will perform a study with two major components. The first is a natural history study of untreated Fabry patients.
- Trial name
- LDN6702 (NCT01581424)
- Where
- 2 sites in United States
- Volunteers
- 50 people
- Sponsor
- University of Minnesota
Morquio Disease, Mucopolysaccharidosis IV
Psychological Concomitants of Morquio Syndrome (The MAP Study)
Mucopolysaccharidosis IV, also known as MPS IV or Morquio disease, is a rare autosomal recessive genetic lysosomal storage disorder.
- Trial name
- MAP (NCT01752296)
- Where
- United States
- Volunteers
- 20 people
- Sponsor
- Nadia Ali, PhD
Glycogen Storage Disease
Study of Glycogen Storage Disease and Associated Disorders
Glycogen, is the storage form of glucose. It is usually formed from sugar and stored in the liver. When tissues, such as muscle, need glucose for fuel the stored glycogen is converted into glucose with the help of enzymes…
- Trial name
- NCT00001342
- Where
- United States
- Volunteers
- 20 people
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)