Clinical trials: Lipid Metabolism, Inborn Errors
Non-familial Hypercholesterolemia and Mixed Hyperlipidemia
A Study to Evaluate the Safety, Efficacy of SYH2053 in Chinese Participants With Non-familial Hypercholesterolemia and Mixed Hyperlipidemia on a Background of Lipid-lowering Therapy
The purpose of this study is to compare the effectiveness, safety of SYH2053 in participants with primary hypercholesterolemia (non-familial) or mixed dyslipidemia on a background of lipid-lowering therapy.
- Trial name
- NCT07421284
- Where
- China
- Volunteers
- 900 people
- Sponsor
- CSPC Zhongnuo Pharmaceutical (Shijiazhuang) Co., Ltd.
Metachromatic Leukodystrophy, Adrenoleukodystrophy
Autologous Hematopoietic Stem Cell Gene Therapy for Metachromatic Leukodystrophy and Adrenoleukodystrophy
Evaluating the safety and efficacy of Lentiviral Hematopoietic Stem Cell Gene Therapy for advanced stage of Metachromatic Leukodystrophy and adrenoleukodystrophy.
- Trial name
- NCT02559830
- Testing
- transduced CD34+ hematopoietic stem cell
- Where
- China
- Volunteers
- 50 people
- Sponsor
- Shenzhen Second People's Hospital
Homozygous Familial Hypercholesterolemia (HoFH)
A Gene Therapy Study for Homozygous Familial Hypercholesterolemia (HoFH)
This first-in-human study is intended to evaluate the safety and preliminary effectiveness of AAV (Adeno-associated virus)-based liver-directed gene therapy in the treatment of adults with Homozygous Familial Hypercholesterolemia…
- Trial name
- NCT02651675
- Testing
- AAV directed hLDLR gene therapy
- Where
- 9 sites in United States, Canada and 2 more
- Volunteers
- 9 people
- Sponsor
- REGENXBIO Inc.
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
Fabry Disease
Open-label Long-term Safety Study of AT1001 (Migalastat Hydrochloride) in Participants With Fabry Disease Who Have Completed a Previous AT1001 Study
Study to evaluate the long-term safety, tolerability, and pharmacodynamics (PD) of migalastat hydrochloride (HCl) (migalastat) in participants with Fabry disease
- Trial name
- NCT00526071
- Testing
- migalastat HCl
- Where
- 8 sites in United States, Australia and 3 more
- Volunteers
- 23 people
- Sponsor
- Amicus Therapeutics
Gaucher's Disease
PEG-Glucocerebrosidase for the Treatment of Gaucher Disease
Gaucher disease is a lysosomal storage disease resulting from glucocerebroside accumulation in macrophages due to a genetic deficiency of the enzyme glucocerebrosidase. It may occur in patients of all ages.
- Trial name
- NCT00001410
- Testing
- Lysodase
- Where
- United States
- Volunteers
- 18 people
- Sponsor
- National Institute of Mental Health (NIMH)
Infantile Globoid Cell Leukodystrophy
The Natural History of Infantile Globoid Cell Leukodystrophy
The purpose of this natural history study is to understand more about the progression of infantile Krabbe disease, a very rare genetic disease. There is very little published longitudinal data with only anecdotal cases.
- Trial name
- NCT00983879
- Where
- United States
- Volunteers
- 6 people
- Sponsor
- Zymenex A/S
Diamond Blackfan Anemia, Dyskeratosis Congenita
Cancer in Inherited Bone Marrow Failure Syndromes
Background: A prospective cohort of Inherited Bone Marrow Failure Syndrome (IBMFS) will provide new information regarding cancer rates and types in these disorders.
- Conditions
- Diamond Blackfan Anemia, Dyskeratosis Congenita, Fanconi Anemia, Shwachman Diamond Syndrome
- Trial name
- NCT00027274
- Where
- 2 sites in United States
- Volunteers
- 4,000 people, healthy volunteers welcome
- Sponsor
- National Cancer Institute (NCI)
Cardiovascular Risk Factor, Pre Diabetes
Effects of a Workplace Exercise Intervention on Cardio-Metabolic Health
Background: The rising levels of physical inactivity in the Eastern Mediterranean region (43.2%) and in the United Arab Emirates (38%) compared with the global levels of physical inactivity (31.2%) is alarming (6,15).
- Conditions
- Cardiovascular Risk Factor, Pre Diabetes, High Blood Pressure, Elevated LDL Cholesterol
- Trial name
- NCT04403789
- Testing
- Exercise Time, Supervised Group Exercise
- Where
- United Arab Emirates
- Volunteers
- 130 people, healthy volunteers welcome
- Sponsor
- United Arab Emirates University
Niemann-Pick Diseases
Induced Pluripotent Stem Cells for Niemann Pick Disease
Establishment of individualized human cellular disease models based on induced pluripotent stem cells that reflect the broad heterogeneous phenotypic spectrum of Niemann Pick disease
- Trial name
- IPSNPABC (NCT03883750)
- Where
- Pakistan
- Volunteers
- 40 people
- Sponsor
- CENTOGENE GmbH Rostock
Mucopolysaccharidoses, Progressive Pseudorheumatoid Dysplasia
Pediatric Arthropathy Beyond Inflammation: Clinical Spectrum and Diagnostic Approach at Assiut University Children Hospital
To identify the most common underlying causes of non-inflammatory arthropathy in children presenting to Assiut University Children Hospital for through clinical evaluation, laboratory testing, and imaging, in order to improve…
- Conditions
- Mucopolysaccharidoses, Progressive Pseudorheumatoid Dysplasia, Farber Disease, Osteogenesis Imperfecta
- Trial name
- NCT07173010
- Volunteers
- 35 people
- Sponsor
- Assiut University
Primary Immune Deficiency Disorders, Hemophagocytic Lymphohistiocytosis
Safety Study of Gene Modified Donor T Cell Infusion After Stem Cell Transplant for Non-Malignant Diseases
The purpose of this study is to determine a safe dose of BPX-501 gene modified T cells infused after a haplo-identical stem cell transplant to facilitate engraftment and the safety of Rimiducid (AP1903) on day 7 to prevent GVHD.
- Conditions
- Primary Immune Deficiency Disorders, Hemophagocytic Lymphohistiocytosis, Inherited Bone Marrow Failure Syndrome, Hemoglobinopathies
- Trial name
- NCT02231710
- Testing
- BPX-501 and Rimiducid
- Where
- United States
- Volunteers
- 1 people
- Sponsor
- Bellicum Pharmaceuticals
Familial Hypercholesterolemia, Nutrition, Healthy
Unravelling the Impact of Diet on Cardiovascular Health in Treated Heterozygous Familial Hypercholesterolemia.
The investigators will conduct a fully controlled dietary randomized crossover trial (RCT) including 10 adults with HeFH using lipid-lowering medication to investigate the impact of a diet low in red and processed meats and high…
- Conditions
- Familial Hypercholesterolemia, Nutrition, Healthy, Cholesterol, Elevated
- Trial name
- NCT06389825
- Testing
- Healthy diet
- Where
- Canada
- Volunteers
- 11 people, healthy volunteers welcome
- Sponsor
- Laval University
Familial Hypercholesterolemia
Improving Identification of Familial Hypercholesterolaemia in Primary Care (FAMCAT)
Multi-centre, non-randomised, non-controlled quasi-experimental study with nested qualitative study and economic appraisal. Improving the identification of patients at high risk of cardiovascular disease in primary care, caused…
- Trial name
- FAMCAT (NCT03934320)
- Testing
- FAMCAT
- Where
- United Kingdom
- Volunteers
- 400 people, healthy volunteers welcome
- Sponsor
- University of Nottingham
Hypercholesterolemia, Familial
Subclinical Atherosclerosis in Patients With Familial Hypercholesterolemia Treated With Evolocumab®
Protein convertase subtilisin kexin type 9 (PCSK-9) inhibitors demonstrated efficacy in cholesterol reduction and in the prevention of cardiovascular events.
- Trial name
- NCT04313270
- Testing
- Evolocumab
- Where
- Italy
- Volunteers
- 25 people
- Sponsor
- Federico II University
Lysosomal Acid Lipase Deficiency, Wolman Disease
A Retrospective Natural History Study of Patients With Lysosomal Acid Lipase Deficiency/Wolman Phenotype
This is a Natural History study to characterize key aspects of the clinical course of lysosomal acid lipase (LAL) deficiency/Wolman phenotype in patients.
- Trial name
- NCT01358370
- Where
- 14 sites in United States, Canada and 3 more
- Volunteers
- 40 people
- Sponsor
- Alexion Pharmaceuticals, Inc.
Familial Hypercholesterolemia
Impact of LDL-cholesterol Lowering on Platelet Activation
The primary goal is to assess the impact of Evolocumab therapy on platelet function of familial hypercholesterolemia (FH) patients in a randomized, double blind study.
- Trial name
- NCT03331666
- Testing
- Evolocumab
- Where
- United States
- Volunteers
- 4 people
- Sponsor
- Columbia University
Gaucher Disease, Type I, Gaucher Disease, Type III
Gaucherite - A Study to Stratify Gaucher Disease
The purpose of this research is to review data already collected and to collect new data from adults and children in England with Gaucher Disease to determine clinical factors which predict severity and response to therapy of…
- Trial name
- Gaucherite (NCT03240653)
- Testing
- Stratified response to Enzyme Therapy
- Where
- 8 sites in United Kingdom
- Volunteers
- 250 people
- Sponsor
- Cambridge University Hospitals NHS Foundation Trust
Late Infantile Metachromatic Leukodystrophy
Long-term Metazym Treatment of Patients With Late Infantile Metachromatic Leukodystrophy (MLD)
This is a single center, open-label study of patients with late infantile MLD. All patients were previous treated 26 weeks in the phase I trial (EudraCT number: 2006-005341-11, NCT00418561).
- Trial name
- NCT00633139
- Testing
- Recombinant human Arylsulfatase A (rhASA)
- Where
- Denmark
- Volunteers
- 13 people
- Sponsor
- Shire
Bone Marrow Failure Syndrome, Severe Aplastic Anemia
CD34+ (Non-Malignant) Stem Cell Selection for Patients Receiving Allogeneic Stem Cell Transplantation
This study's goal is to determine the frequency and severity of acute graft versus host disease, to evaluate incidence of primary and secondary graft rejection, to assess event free survival and overall survival, to determine the…
- Conditions
- Bone Marrow Failure Syndrome, Severe Aplastic Anemia, Severe Congenital Neutropenia, Amegakaryocytic Thrombocytopenia
- Trial name
- NCT01966367
- Testing
- CD34 Stem Cell Selection Therapy
- Where
- United States
- Volunteers
- 37 people
- Sponsor
- Diane George
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