Clinical trials: Storage Disease
MPS 7, Sly Syndrome
A Phase 3 Study of UX003 Recombinant Human Betaglucuronidase (rhGUS) Enzyme Replacement Therapy in Patients With Mucopolysaccharidosis Type 7 (MPS 7)
The Phase 3 study will use a novel randomized, intra-subject placebo-controlled, single crossover design, referred to as Blind Start, to evaluate the safety and efficacy of UX003.
- Conditions
- MPS 7, Sly Syndrome, Mucopolysaccharidosis, MPS VII
- Trial name
- NCT02230566
- Testing
- UX003
- Where
- 4 sites in United States
- Volunteers
- 12 people
- Sponsor
- Ultragenyx Pharmaceutical Inc
Pompe's Disease
Prevalence of Pompe's Disease in Respiratory Clinics
Pompe's disease is a very rare condition which causes weakness of the respiratory muscles and may therefore cause symptoms of breathlessness or even respiratory failure, requiring the use of a ventilator at night.
- Trial name
- PURF (NCT02527239)
- Testing
- Prospective observational study
- Volunteers
- 400 people
- Sponsor
- Royal Brompton & Harefield NHS Foundation Trust
Niemann-Pick Disease, Type C
Evaluation of Biochemical Markers and Clinical Investigation of Niemann-Pick Disease, Type C
This study will evaluate clinical and laboratory tests that might be useful in determining if an investigational drug can slow the progression of Niemann-Pick Disease, Type C (NPC), a genetic disorder that results in progressive…
- Trial name
- NCT00344331
- Where
- United States
- Volunteers
- 900 people, healthy volunteers welcome
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Thrombocytopenia
Efficacy and Safety Study of Platelets Treated for Pathogen Inactivation and Stored for Up to Seven Days
Objective: To determine if platelets treated for pathogen inactivation and stored for 6 to 7 days are safe and effective compared to platelets collected by the same method, stored for the same amount of time and not treated for…
- Trial name
- TESSI (NCT00261924)
- Testing
- Transfusion of Pathogen Inactivated Platelets stored for 6-7 days
- Where
- United Kingdom
- Volunteers
- 211 people
- Sponsor
- Cerus Corporation
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
Hematological Malignancies
Safety and Efficacy of SMART101 in Adult Patients With Hematological Malignancies After Haploidentical HSCT With Post-transplant Cyclophosphamide
The purpose of this study is to evaluate the safety and the efficacy of SMART101 (Human T Lymphoid Progenitors (HTLP)) injection to accelerate immune reconstitution after haploidentical hematopoietic stem cell transplantation…
- Trial name
- NCT05768035
- Testing
- Allogeneic T cell progenitors, cultured ex-vivo
- Where
- 4 sites in France
- Volunteers
- 40 people
- Sponsor
- Smart Immune SAS
Lysosomal Acid Lipase Deficiency, Wolman Disease
Safety, Tolerability, Efficacy, Pharmacokinetics, and Pharmacodynamics of Sebelipase Alfa in Children With Growth Failure Due to Lysosomal Acid Lipase Deficiency
This was an open-label, repeat-dose, intra-participant dose-escalation study of SBC-102 (sebelipase alfa) in children with growth failure due to lysosomal acid lipase (LAL) Deficiency.
- Trial name
- NCT01371825
- Testing
- Sebelipase alfa (SBC-102)
- Where
- 7 sites in United States, Egypt and 3 more
- Volunteers
- 9 people
- Sponsor
- Alexion Pharmaceuticals, Inc.
Niemann-Pick Disease, Type C
Longitudinal Study of Cognition With Niemann-Pick Disease, Type C
Niemann-Pick Disease, Type C (NPC) is a rare neurodegenerative disorder with a wide clinical spectrum and variable age of onset.
- Trial name
- NPC (NCT01899950)
- Where
- United States
- Volunteers
- 70 people
- Sponsor
- Mayo Clinic
Osteoarthritis, Osteosarcoma
Clinical Orthopaedic Data Bank (Acute and Chronic)
Data involving orthopaedic conditions and rehabilitation aspects of musculoskeletal and neuromuscular disorders will be collected and stored as part of the normal clinical care of patients seen in the University of Florida (UF)…
- Conditions
- Osteoarthritis, Osteosarcoma, Scoliosis, Cerebral Palsy
- Trial name
- NCT00411060
- Where
- United States
- Volunteers
- 10,000 people
- Sponsor
- University of Florida
Genetic Diseases, Genetic Syndrome
Rapid Whole Genome Sequencing Study
Rapid Whole Genome Sequencing (rWGS) has proven to provide much faster diagnoses than traditional clinical testing, including clinical Whole Exome Sequencing (WES) and standard Whole Genome Sequencing (WGS).
- Trial name
- rWGS (NCT03385876)
- Testing
- Genomic sequencing and molecular diagnostic results, if any
- Where
- United States
- Volunteers
- 100,000 people, healthy volunteers welcome
- Sponsor
- Rady Pediatric Genomics & Systems Medicine Institute
Fabry Disease
Efficacy and Safety of Enzyme Replacement Therapy in Patients With Fabry Disease
The goal of this observational study is to learn how enzyme replacement therapy works in patients with Fabry disease. The main question it aims to answer is: What medical problems do participants have? Participants already on…
- Trial name
- FAVORIT (NCT06880250)
- Where
- 23 sites in Russia
- Volunteers
- 100 people
- Sponsor
- NPO Petrovax
Fabry Disease, Pregnancy
Maternal and Postnatal Outcomes Study (MOS): A Global Observational Registry Assessing the Safety of Elfabrio® in Women With Fabry Disease and Their Infants During Pregnancy and Breastfeeding
The goal of this observational registry is to evaluate the safety and outcomes of pregnancy and lactation in women with Fabry disease who are exposed to pegunigalsidase alfa within 30 days prior to conception and/or during…
- Conditions
- Fabry Disease, Pregnancy, Pregnancy Complications
- Trial name
- MOS (NCT06941025)
- Testing
- Not applicable- observational study
- Where
- 5 sites in United States, Germany and 3 more
- Volunteers
- 10 people
- Sponsor
- Chiesi Farmaceutici S.p.A.
Fabry Disease
A Qualitative Study on the Pain and Quality of Life of Patients With Fabry Disease
Background It is necessary to find out the difficulties experienced by patients with Fabry disease and their families, and to seek solutions for them.
- Trial name
- NCT05679076
- Where
- South Korea
- Volunteers
- 10 people
- Sponsor
- Yonsei University
Fabry Disease, Cardiac Variant, Right Ventricular Hypertrophy
Myocardial Affectation in Patients With Fabry Disease Without Phenotypic Manifestation. Diagnostic Value of Biomarkers
The cardiac variant of the Fabry disease is a rare cardiomyopathy affecting 1/50000 individuals in general population. It is generally diagnosed in advanced stages of the disease, because it presents clinical features very…
- Trial name
- FAMY (NCT01442350)
- Volunteers
- 120 people
- Sponsor
- Francisco Marín Ortuño
Glycogen Storage Disease Type V
Triheptanoin in Mc Ardle
Background: Patients with the sugar metabolism disorder, Glycogen Storage Disease Type V, have insufficient breakdown of sugar stored as, glycogen, within the cells.
- Trial name
- NCT02919631
- Testing
- Triheptanoin
- Where
- France
- Volunteers
- 12 people
- Sponsor
- Institut National de la Santé Et de la Recherche Médicale, France
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
Fabry Disease
Fabry Screening Study
To determine if patients with a deficiency of alpha-galactosidase A are at-risk for cardiac complications that commonly occur in the general population
- Trial name
- NCT01019629
- Where
- United States
- Volunteers
- 2,724 people, healthy volunteers welcome
- Sponsor
- Baylor Research Institute
Metachromatic Leukodystrophy (MLD)
Metazym for the Treatment of Patients With Late Infantile Metachromatic Leukodystrophy (MLD)
Objectives: The overall objective is to evaluate the safety, efficacy and pharmacokinetics (PK) of rhASA treatment in patients with late infantile MLD.
- Trial name
- NCT00418561
- Testing
- rhASA - Dose Level 1, rhASA - Dose Level 2, rhASA - Dose Level 3
- Where
- Denmark
- Volunteers
- 13 people
- Sponsor
- Shire
Mucopolysaccharidosis, Fabry Disease
Non-invasive Assessment of Intraocular Pressure in MPS by Use of the Ocular Response Analyzer.
The aim of the present study is to compare intraocular pressure (IOP) values assessed with Ocular Response Analyzer to the classical gold standard of IOP measurement, to Goldmann applanation tonometry by mucopolysacchyridosis…
- Trial name
- MPSORA (NCT01695161)
- Where
- Germany
- Volunteers
- 75 people, healthy volunteers welcome
- Sponsor
- Johannes Gutenberg University Mainz
BPH
The Long Term Effects of Alfuzosin(Xatral XL) in Lower Urinary Tract Symptoms(LUTS)/BPH Patients
Benign prostatic hyperplasia (BPH) is a common condition among older men. The efficacy of α1-blockers for treating BPH has been well documented and they are recommended for the treatment of BPH by clinical guidelines.
- Trial name
- NCT00696761
- Testing
- Alfuzosin
- Volunteers
- 232 people
- Sponsor
- Asan Medical Center
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