Clinical trials: Storage Disease
Fabry Disease
A Study of the Safety and Efficacy of Fabrazyme in Patients With Fabry Disease
People with Fabry disease have an alteration in their genetic material (DNA) which causes a deficiency of the alpha-galactosidase A enzyme.
- Trial name
- NCT00196716
- Testing
- Fabrazyme (agalsidase beta)
- Where
- 4 sites in Czechia, Estonia and 2 more
- Volunteers
- 21 people
- Sponsor
- Genzyme, a Sanofi Company
Alpha Mannosidosis
Safety Study of Recombinant Human Alpha-mannosidase for the Treatment of Patients With Alpha-mannosidosis
This is a single-center, open-label, dose escalation study of patients with alpha-mannosidosis. 10 patients will be enrolled in this study receiving intravenous infusions of Lamazym.
- Trial name
- NCT01268358
- Testing
- Lamazym
- Volunteers
- 10 people
- Sponsor
- Zymenex A/S
Cystinosis
The Effect of Exercise on Muscle Dysfunction in Cystinosis
Classification of activity tolerance is of importance in chronic progressive myopathies, not only to better understand functional implications of the disease state itself, but also for purposes of exercise prescription for health…
- Trial name
- NCT04071548
- Testing
- HIIT Exercise
- Where
- United States
- Volunteers
- 9 people
- Sponsor
- Stanford University
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
Alpha-Mannosidosis
Lamazym Aftercare Study
The overall objective of this trial is to provide aftercare treatment with Lamazym and to evaluate the safety of repeated Lamazym i.v. treatment of subjects with alpha-Mannosidosis whom previously participated in Lamazym-trial.
- Trial name
- rhLAMAN-09 (NCT01908725)
- Testing
- Lamazym
- Where
- Denmark
- Volunteers
- 8 people
- Sponsor
- Chiesi Farmaceutici S.p.A.
Rare Genetic Disorders
Collection and Storage of Human Biospecimens for Research Into Rare Diseases and Medical Conditions
The objective of this protocol is to enable collection of biospecimens to facilitate current and future multidisciplinary research in rare genetic disorders and medical conditions.
- Trial name
- NCT02365376
- Where
- United States
- Sponsor
- BioMarin Pharmaceutical
Fabry Disease
German Observational Multicenter Study of Patients With Fabry Disease Under Enzyme Replacement Therapy With Pegunigalsidase-alfa
Pegunigalsidase-alfa may represent an advance in ERT for FD, based on its unique pharmacokinetics and apparent low immunogenicity.
- Trial name
- GoPEG (NCT06095713)
- Testing
- Pegunigalsidase-alfa
- Where
- 8 sites in Germany
- Volunteers
- 60 people
- Sponsor
- Universität Münster
Pompe Disease
A Pilot Study of Pyridostigmine in Pompe Disease
Pyridostigmine is an acetylcholinesterase inhibitor, which degrades acetylcholine at the neuromuscular junction. Based on recent studies, pyridostigmine may be an effective adjuvant treatment for people with Pompe disease, as it…
- Trial name
- NCT02357225
- Testing
- Pyridostigmine Bromide
- Where
- United States
- Volunteers
- 2 people
- Sponsor
- University of Florida
Thrombocytopenia
Phase 1 Safety Study of Dimethyl Sulfoxide Cryopreserved Platelets
This study is to evaluate the safety of intravenous (IV) infusion of dimethyl sulfoxide (DMSO) cryopreserved platelets (CPP) in participants with World Health Organization (WHO) Grade 2 bleed in spite of receiving a transfusion…
- Trial name
- NCT02078284
- Testing
- CPP, LSP
- Where
- 4 sites in United States
- Volunteers
- 28 people
- Sponsor
- U.S. Army Medical Research and Development Command
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
Inherited Disease, Rare Diseases
Longitudinal Study of Ultra-rare Inherited Metabolic and Degenerative Neurological Diseases.
General aim of the study is the improvement of the clinical knowledge of ultra-rare inherited metabolic and degenerative neurological diseases (prevalence less than 5:100,000) in adulthood through the systematic longitudinal…
- Conditions
- Inherited Disease, Rare Diseases, Metabolic Disease, Undiagnosed Disease
- Trial name
- NCT04880356
- Testing
- collection of data
- Where
- Italy
- Volunteers
- 100 people
- Sponsor
- Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta
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
Gaucher Disease
Identification of Undiagnosed Gaucher Disease
Partners HealthCare maintains a Patient Data Registry (PDR) with information from all patient encounters at Partners HealthCare facilities.
- Trial name
- NCT01716741
- Testing
- Enzyme analysis
- Where
- United States
- Volunteers
- 100 people
- Sponsor
- Brigham and Women's Hospital
Urinary Bladder, Overactive
Study The Effects Of Different Doses Of UK-369,003 In Men With Overactive Bladder
This is a 12 week study in which different doses of UK-369,003 will be administered to patients with a diagnosis of overactive bladder.
- Trial name
- NCT00479505
- Testing
- UK-369,003
- Where
- 52 sites in Australia, Canada and 14 more
- Volunteers
- 275 people
- Sponsor
- Pfizer
Autism Spectrum Disorder, Autism
Autism Spectrum Disorder (ASD) Neurodevelopmental Disorder With Issues Social Behavior, Communication Issues, GI Dysfunction. Study is Multimodal Interventions Targeting These Pathways With cSVF, Stored MSCs, FMT and Diet Modification. Role of Autoimmunity, Gut-brain Issues, & Issues Examined.
Autism spectrum disorder (ASD) is a neurodevelopmental condition with core deficits in social communication and behavior, often accompanied by gastrointestinal (GI) and metabolic dysfunction.
- Conditions
- Autism Spectrum Disorder, Autism, Autism Spectral Disorder
- Trial name
- GARM-Autism (NCT07546942)
- Testing
- Autologous MSC isolation, concentration, and cryopreservation of adult mesenchymal stem cells, Fecal Biomicrome Transplantation (FMT), Ketogenic RESET Diet Protocol
- Where
- 2 sites in United States
- Volunteers
- 50 people
- Sponsor
- Black Tie Medical, Inc.
Fabry Disease
Treatment Protocol of Replagal for Patients With Fabry Disease
The study will evaluate the safety and efficacy of Replagal® (agalsidase alfa) at a dose of 0.2 mg/kg infused intravenously (IV) over 40 minutes, every other week.
- Trial name
- NCT01031173
- Testing
- agalsidase alfa
- Where
- 25 sites in United States
- Sponsor
- Shire
Pompe Disease Late-Onset, Glycogen Storage Disease Type II GSD II
Extension Study of Long-term Safety and Efficacy of Myozyme for a Single Patient With Pompe Disease Who Were Previously Enrolled in Genzyme Sponsored ERT Studies.
This extension study was to monitor the long-term safety and efficacy of rhGAA treatment in a single patient with infantile-onset Pompe disease who were previously treated with rhGAA in a Genzyme study.
- Trial name
- NCT00765414
- Testing
- Myozyme
- Where
- United States
- Volunteers
- 1 people
- Sponsor
- Genzyme, a Sanofi Company
Niemann-Pick Disease, Type C1
Open-Label Study of Long-Term Safety and Efficacy of Intravenous Trappsol Cyclo (HPβCD) in Niemann-Pick Disease Type C
The purpose of this study is to provide continued access to treatment for NPC-1 after participation and completion of the Phase I trial CTD-TCNPC-101, when administered at doses of 1500 mg/kg and 2500 mg/kg by slow IV infusion…
- Trial name
- NCT03893071
- Testing
- Hydroxypropyl-β-cyclodextrin
- Where
- United States
- Volunteers
- 12 people
- Sponsor
- Cyclo Therapeutics, Inc.
Cystinosis, Nephropathic Cystinosis
Cure Cystinosis International Registry
Cure Cystinosis International Registry (CCIR) is an online, patient self-identifying registry developed by medical and scientific experts specifically for the cystinosis community.
- Conditions
- Cystinosis, Nephropathic Cystinosis, Renal Fanconi Syndrome
- Trial name
- CCIR (NCT01327807)
- Where
- United States
- Volunteers
- 750 people
- Sponsor
- Cystinosis Research Foundation
Glycogen Storage Disease Type I
Anaplerotic Therapy Using Triheptanoin for Patients With Glycogen Storage Disease Type I
This study will be an open-label, prospective, interventional feasibility pilot project to study the efficacy, safety, and tolerability of UX007 (triheptanoin) on reducing hypoglycemic events in patients with GSD I.
- Trial name
- NCT03665636
- Testing
- Triheptanoin
- Where
- United States
- Volunteers
- 4 people
- Sponsor
- Areeg El-Gharbawy
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