Clinical trials: Storage Disease
Alpha-Mannosidase B Deficiency, Lysosomal Alpha B Mannosidosis
Biomarker for Mannosidosis Disease (BioMannosidosis)
Development of a new MS-based biomarker for the early and sensitive diagnosis of Mannosidosis disease from blood (plasma)
- Conditions
- Alpha-Mannosidase B Deficiency, Lysosomal Alpha B Mannosidosis, Alpha-Mannosidase Deficiency
- Trial name
- BioMannosido (NCT03264040)
- Where
- 3 sites in Germany, India and 1 more
- Sponsor
- CENTOGENE GmbH Rostock
Fabry Disease
A Study of Patients With Fabry Disease (US Specific)
This is an observational study to evaluate the effects of treatment on long-term effectiveness, safety, and health-related quality of life (HRQOL) in patients with Fabry disease, with a main focus on migalastat.
- Trial name
- NCT06906367
- Testing
- migalastat HCl, ERT
- Where
- 8 sites in United States
- Volunteers
- 450 people
- Sponsor
- Amicus Therapeutics
Head and Neck Cancer
Collecting and Storing Tissue Samples From Patients With Head and Neck Cancer
RATIONALE: Collecting and storing samples of tissue, blood, and saliva from patients with cancer to study in the laboratory may help the study of cancer in the future.
- Trial name
- NCT00898300
- Testing
- biologic sample preservation procedure, biopsy
- Where
- 98 sites in United States, Canada
- Volunteers
- 351 people
- Sponsor
- Radiation Therapy Oncology Group
Thrombocytopenia, Hematologic Malignancy
Thrombosomes® in Bleeding Thrombocytopenic Patients Study
This prospective, multicenter, randomized, open-label, Phase 2, parallel, dose ranging, multidose trial will enroll patients into 3 Thrombosomes dose groups and 1 control liquid stored platelets (LSP) group in order to evaluate…
- Conditions
- Thrombocytopenia, Hematologic Malignancy, Bone Marrow Aplasia, Myeloproliferative Disorders
- Trial name
- NCT04631211
- Testing
- Thrombosomes, Liquid Stored Platelets (LSP)
- Where
- 6 sites in United States, Israel and 1 more
- Volunteers
- 21 people
- Sponsor
- Cellphire Therapeutics, Inc.
Hermansky Pudlak Syndrome, Interstitial Lung Disease
Efficacy and Safety of Pirfenidone Treatment in HPS-ILD
This research study will explore the safety and efficacy of the drug, pirfenidone, in patients with a diagnosis of Hermansky-Pudlak Syndrome (HPS) who have an associated interstitial lung disease (ILD) over a planned period of 56…
- Trial name
- PEARL (NCT04193592)
- Testing
- Pirfenidone
- Where
- 2 sites in United States, Puerto Rico
- Volunteers
- 50 people
- Sponsor
- Jesse Roman
Heart Transplantation
Precise Cooler for Donor Heart Transport
The investigators are doing this study to compare approaches to cold storage of donor hearts during transportation. The adjustable temperature RYOBI cooler should allow precise temperature control while reducing environmental…
- Trial name
- NCT07354763
- Testing
- Organ transport using SherpaPak, Ryobi cooler for Organ Transport
- Where
- United States
- Volunteers
- 80 people
- Sponsor
- Cedars-Sinai Medical Center
Alzheimer's Disease (AD), Cognitive Impairment
BioMIND Biospecimen Repository
The purpose of the BBR is to facilitate scientific research by serving as a local and external resource for the distribution of human blood and CSF biospecimens, together with their corresponding clinical data, to internal and…
- Trial name
- BBR (NCT07912736)
- Testing
- blood sample and optional csf collection
- Where
- Canada
- Volunteers
- 1,000 people
- Sponsor
- London Health Sciences Centre Research Institute OR Lawson Research Institute of St. Joseph's
Cystinosis
PK and PD Study of NPI-001 and Cysteamine Bitartrate
Safety, pharmacokinetics, and pharmacodynamics of NPI-001 oral solution in cystinosis patients compared with cysteamine.
- Trial name
- INCA (NCT05994534)
- Testing
- Cysteamine Bitartrate, N-Acetylcysteine Amide
- Where
- Australia
- Volunteers
- 8 people
- Sponsor
- Nacuity Pharmaceuticals, Inc.
Hepatocellular Injury, Liver Transplant Disorder
Hypothermic Oxygenated (HOPE) Versus Normothermic Machine Perfusion (NMP) in Human Liver Transplantation
The common practice of conventional cold storage (CCS) organ preservation has changed little since the initial introduction of the original University of Wisconsin (UW) organ preservation solution in the late 1980s.
- Trial name
- HOPE-NMP (NCT04644744)
- Testing
- Hypothermic oxygenated perfusion (HOPE), Normothermic machine perfusion (NMP)
- Where
- 4 sites in Germany
- Volunteers
- 213 people
- Sponsor
- Charite University, Berlin, Germany
Glycogen Storage Disease Type II
Effect of Motor Development, Motor Function and Electrophysiologic Findings of IOPD Under ERT
To investigate the motor development, motor function and electrodiagnostics presentation in IOPD under ERT.
- Trial name
- NCT02761421
- Testing
- observation study
- Where
- Taiwan
- Volunteers
- 15 people
- Sponsor
- Taipei Veterans General Hospital, Taiwan
Bloating
A Study to Evaluate OPTI-BIOME™ Bacillus Subtilis MB40 on Abdominal Discomfort, Gas and Bloating in a Healthy Population
The purpose of this study is to investigate the effects of OPTI-BIOME™ (Bacillus subtilis MB40), a probiotic supplement, on bloating, gas and abdominal discomfort symptoms in otherwise healthy adults.
- Trial name
- NCT02950012
- Testing
- OPTI-BIOME™ Bacillus subtilis MB40
- Where
- 3 sites in United States, Canada
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- BIO-CAT Microbials, LLC
Hurler's Syndrome, Maroteaux-Lamy Syndrome
Hematopoietic Stem Cell Transplantation (HCT) for Inborn Errors of Metabolism
The primary objective of this clinical trial is to evaluate the ability to achieve and sustain donor engraftment in patients with lysosomal and peroxisomal inborn errors of metabolism undergoing hematopoietic stem cell…
- Conditions
- Hurler's Syndrome, Maroteaux-Lamy Syndrome, Sly Syndrome, Alpha Mannosidosis
- Trial name
- NCT00668564
- Testing
- Stem Cell Transplantation, Cyclophosphamide, Campath-1H
- Where
- United States
- Volunteers
- 18 people
- Sponsor
- Masonic Cancer Center, University of Minnesota
Mucopolysaccharidosis I, Hurler's Syndrome
A Study of the Effect of Aldurazyme® (Laronidase) Treatment on Lactation in Female Patients With Mucopolysaccharidosis I (MPS I) and Their Breastfed Infants
The purpose of this study is to determine if laronidase is present in the breast milk of post-partum women receiving Aldurazyme® (laronidase) and the effects of Aldurazyme (laronidase) on the growth, development, and immunologic…
- Conditions
- Mucopolysaccharidosis I, Hurler's Syndrome, Hurler-Scheie Syndrome, Scheie
- Trial name
- NCT00418821
- Testing
- Laronidase
- Where
- Italy
- Volunteers
- 2 people
- Sponsor
- Genzyme, a Sanofi Company
Glycogen Storage Disease Type IA
Endogenous Glucose Production in Patients With Glycogen Storage Disease Type Ia
Glycogen storage disease type Ia (GSDIa) subjects retain a limited capacity for endogenous glucose production (EGP). To date, the origin of residual EGP in GSDIa patients is unknown.
- Trial name
- ENGLUPRO GSDIa (NCT04311307)
- Testing
- [6,6-2H2]glucose
- Where
- Netherlands
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- University Medical Center Groningen
Healthy, Cancer
Effect of Long-time Human Sperm Storage in Liquid Nitrogen on Semen Parameters
Sperm cryopreservation is an essential tool for men fertility preservation in the context of gonadotoxic treatments or/and pathologies such as cancers, gamete donation and ART.
- Conditions
- Healthy, Cancer, Infertility, Male, Cryopreservation
- Trial name
- CRYOFERT (NCT06448000)
- Where
- France
- Volunteers
- 101 people
- Sponsor
- University Hospital, Clermont-Ferrand
Fabry Disease
Study to Collect Data on Fabry Disease Patients With Enhanceable Alpha-Galactosidase A Activity
This study will collect data needed to design a treatment trial for patients with Fabry disease using the experimental drug AT-1001.
- Trial name
- NCT00106912
- Where
- United States
- Volunteers
- 35 people
- Sponsor
- National Institute of Neurological Disorders and Stroke (NINDS)
Hypochondroplasia
Efficacy and Safety Evaluation of Recombinant Human Growth Hormone (r-hGH), Saizen®, on a Population of Children With Hypochondroplasia, Treated at Least 3 Years or Until Near Final Height, When Applicable, in Comparison With a Historic Cohort of Non-treated Children
This study is conducted to describe the efficacy and safety of recombinant human growth hormone (r-hGH) treatment Saizen® on children with hypochondroplasia.
- Trial name
- NCT01111019
- Testing
- Recombinant human growth hormone (r-hGH)
- Where
- France
- Volunteers
- 19 people
- Sponsor
- Merck KGaA, Darmstadt, Germany
Neurological Regression, Myoclonus
Natural History of Glycosphingolipid Storage Disorders and Glycoprotein Disorders
Study description: This is a natural history study that will evaluate any patient with enzyme or DNA confirmed GM1 or GM2 gangliosidosis, sialidosis or galactosialidosis.
- Conditions
- Neurological Regression, Myoclonus, Cherry Red Spot, Brain Atrophy
- Trial name
- NCT00029965
- Where
- United States
- Volunteers
- 200 people
- Sponsor
- National Human Genome Research Institute (NHGRI)
Fucosidosis
A Long-Term Observational Study of Patients With Fucosidosis
The purpose of this observational research study is to learn more about the natural history of fucosidosis, its symptoms, and how it develops over time.
- Trial name
- NCT07615400
- Where
- 16 sites in United States, India and 4 more
- Volunteers
- 57 people
- Sponsor
- JCR Pharmaceuticals Co., Ltd.
Gaucher Disease
A Study of the Effects of Renal Impairment on the Pharmacokinetics and Tolerability of Eliglustat Tartrate
Primary Objective: To study the effect of mild, moderate, and severe renal impairment on the pharmacokinetics (PK) of eliglustat.
- Trial name
- NCT02536937
- Testing
- eliglustat
- Where
- 3 sites in United States
- Volunteers
- 32 people, healthy volunteers welcome
- Sponsor
- Sanofi
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