| 1 |
NCT02372513 |
Completed |
National Lysosomal Acid Lipase Deficiency Study |
- Cholesteryl Ester Storage Disease
|
|
Observational |
|
- Ankara University
- Alexion Pharmaceuticals
|
Other / Industry |
- Observational Model: Cohort
- Time Perspective: Prospective
|
- Frequency of Cholesteryl Ester Storage Disease in children who have unexplained transaminase elevation for more than 3 months and/or organomegaly and/or hepatosteatosis unrelated to obesity and/or cryptogenic fibrosis and cirrhosis
- Identify demographic and clinical features of Cholesteryl Ester Storage Disease
|
810 |
All |
3 Months to 18 Years (Child, Adult) |
NCT02372513 |
LALD-TR |
LAL-D |
January 2015 |
January 31, 2017 |
March 1, 2017 |
February 26, 2015 |
November 13, 2017 |
|
- Ankara University School of Medicine
Ankara, Turkey
|
| 2 |
NCT01528917 |
Completed |
An Observational Study of Patients With Lysosomal Acid Lipase Deficiency/Cholesteryl Ester Storage Disease Phenotype |
- Cholesterol Ester Storage Disease(CESD)
- Lysosomal Acid Lipase Deficiency
|
|
Observational |
|
|
Industry |
- Observational Model: Cohort
- Time Perspective: Retrospective
|
|
49 |
All |
5 Years and older (Child, Adult, Senior) |
NCT01528917 |
LAL-2-NH01 |
|
June 2011 |
January 2013 |
May 2013 |
February 8, 2012 |
July 20, 2016 |
|
- Stanford University
Stanford, California, United States - Children's Memorial Hospital
Chicago, Illinois, United States - University of Minnesota
Minneapolis, Minnesota, United States - (and 13 more...)
|
| 3 |
NCT02112994 |
Completed |
Safety and Efficacy Study of Sebelipase Alfa in Patients With Lysosomal Acid Lipase Deficiency |
- Lysosomal Acid Lipase Deficiency
|
|
Interventional |
Not Applicable |
|
Industry |
- Intervention Model: Single Group Assignment
- Masking: None (Open Label)
- Primary Purpose: Treatment
|
- The safety of sebelipase alfa in a more broad population of patients with LALD than have been previously studied.
- The effect of sebelipase alfa on lipid metabolism.
- The effect of sebelipase alfa on growth parameters in pediatric patients presenting with evidence of growth delay.
- (and 2 more...)
|
31 |
All |
8 Months and older (Child, Adult, Senior) |
NCT02112994 |
LAL-CL06
2011-004287-30 |
|
May 2014 |
December 2017 |
December 2017 |
April 14, 2014 |
February 14, 2018 |
|
- University of Miami
Miami, Florida, United States - Ann & Robert H Lurie Childrens Hospital of Chicago
Chicago, Illinois, United States - LSU Health Sciences Center - Shreveport
Shreveport, Louisiana, United States - (and 18 more...)
|
| 4 |
NCT02376751 |
No longer available |
An Expanded Access Protocol for Sebelipase Alfa for Patients With Lysosomal Acid Lipase Deficiency |
- Lysosomal Acid Lipase Deficiency
|
|
Expanded Access |
|
|
Industry |
|
|
|
All |
8 Months and older (Child, Adult, Senior) |
NCT02376751 |
LAL-EA01 |
|
|
|
|
March 3, 2015 |
June 8, 2016 |
|
|
| 5 |
NCT02193867 |
Active, not recruiting |
Clinical Trial in Infants With Rapidly Progressive Lysosomal Acid Lipase Deficiency |
- Lysosomal Acid Lipase Deficiency
|
|
Interventional |
Phase 2 |
|
Industry |
- Intervention Model: Single Group Assignment
- Masking: None (Open Label)
- Primary Purpose: Treatment
|
- Long-term safety
- Survival at 12 months of age
- Survival beyond 12 months of age
- (and 3 more...)
|
10 |
All |
up to 8 Months (Child) |
NCT02193867 |
LAL-CL08 |
|
June 2014 |
April 2018 |
April 2018 |
July 18, 2014 |
September 6, 2017 |
|
- Irvine, California, United States
- Naples, Italy
- Birmingham, United Kingdom
- Manchester, United Kingdom
|
| 6 |
NCT01473875 |
Terminated |
Children With Lysosomal Acid Lipase Deficiency Who Previously Received Treatment With SBC-102 |
- Lysosomal Acid Lipase Deficiency
- Wolman Disease
|
|
Interventional |
Phase 2
Phase 3 |
|
Industry |
- Intervention Model: Single Group Assignment
- Masking: None (Open Label)
- Primary Purpose: Treatment
|
- Overall survival
- Survival rates at periodic intervals and median survival time.
- Long-term safety of SBC-102 in children with growth failure due to LAL Deficiency
|
10 |
All |
Child, Adult, Senior |
NCT01473875 |
LAL-CL05 |
|
November 2011 |
December 2014 |
January 2015 |
November 17, 2011 |
February 20, 2017 |
|
- Hopital Necker Enfants Malades
Paris, France - St. Mary's Hospital, Central Manchester University Hospitals
Manchester, United Kingdom
|
| 7 |
NCT01358370 |
Completed |
A Retrospective Natural History Study of Patients With Lysosomal Acid Lipase Deficiency/Wolman Phenotype |
- Lysosomal Acid Lipase Deficiency
- Wolman Disease
|
|
Observational |
|
|
Industry |
- Observational Model: Cohort
- Time Perspective: Retrospective
|
|
40 |
All |
Child, Adult, Senior |
NCT01358370 |
LAL-1-NH01 |
|
November 2010 |
January 2013 |
March 2013 |
May 23, 2011 |
June 27, 2016 |
|
- Cedars-Siani Medical Center
Los Angeles, California, United States - Stanford University
Palo Alto, California, United States - University of Minnesota
Minneapolis, Minnesota, United States - (and 11 more...)
|
| 8 |
NCT02926872 |
Terminated |
Screening for Lysosomal Acid Lipase Deficiency |
- Lysosomal Acid Lipase Deficiency
|
- Other: There is no intervention in the study
|
Observational |
|
|
Industry |
- Observational Model: Other
- Time Perspective: Other
|
- Eligibility Criteria for LAL-D diagnosed patients
- LIPA gene mutations for LAL-D diagnosed patients
|
22 |
All |
2 Years to 16 Years (Child) |
NCT02926872 |
ALX-LAL-502 |
|
November 2016 |
June 5, 2017 |
June 5, 2017 |
October 6, 2016 |
June 16, 2017 |
|
- Children's Healthcare of Atlanta
Atlanta, Georgia, United States - Texas Children's Hospital, Baylor College of Medicine
Houston, Texas, United States
|
| 9 |
NCT01371825 |
Active, not recruiting
Has Results |
SurVival of Lysosomal Acid Lipase Deficiency (LAL-D) Infants Treated With SebelipAse aLfa |
- Lysosomal Acid Lipase Deficiency
- Wolman Disease
|
- Drug: Sebelipase alfa (SBC-102)
|
Interventional |
Phase 2
Phase 3 |
|
Industry |
- Intervention Model: Single Group Assignment
- Masking: None (Open Label)
- Primary Purpose: Treatment
|
- Percentage of Subjects in the PES Surviving to 12 Months of Age
- Percentage of Subjects in the PES Surviving at 18 Months of Age
- Percentage of Subjects in the PES Surviving at 24 Months of Age
- (and 6 more...)
|
9 |
All |
up to 24 Months (Child) |
NCT01371825 |
LAL-CL03 |
VITAL |
May 2011 |
August 2014 |
April 2018 |
June 13, 2011 |
November 14, 2017 |
April 18, 2016 |
- University of California, Irvine
Irvine, California, United States - North Shore Hospital Long Island Jewish Health System
Manhasset, New York, United States - Ain Shams University Pediatrics Hospital
Cairo, Egypt - (and 6 more...)
|
| 10 |
NCT01716728 |
Unknown † |
Identification of Undiagnosed Lysosomal Acid Lipase Deficiency |
- Lysosomal Acid Lipase Deficiency
- Cholesterol Ester Storage Disease
|
|
Interventional |
Not Applicable |
- Massachusetts General Hospital
- Alexion Pharmaceuticals
|
Other / Industry |
- Intervention Model: Single Group Assignment
- Masking: None (Open Label)
- Primary Purpose: Diagnostic
|
- number of patients with previously undiagnosed GD identified Time Frame: up to 2 years Description: Safety Issue?: No number of patients with previously undiagnosed LALD identified
|
60 |
All |
Child, Adult, Senior |
NCT01716728 |
2012P000418 |
|
August 2012 |
August 2014 |
|
October 30, 2012 |
August 13, 2013 |
|
- Massachusetts General Hospital
Boston, Massachusetts, United States
|
| 11 |
NCT01757184 |
Active, not recruiting
Has Results |
A Multicenter Study of SBC-102 (Sebelipase Alfa) in Patients With Lysosomal Acid Lipase Deficiency/ ARISE (Acid Lipase Replacement Investigating Safety and Efficacy) |
- Cholesterol Ester Storage Disease (CESD)
- Lysosomal Acid Lipase Deficiency
|
- Drug: SBC-102 [sebelipase alfa] (1 mg/kg)
- Drug: Placebo
|
Interventional |
Phase 3 |
|
Industry |
- Allocation: Randomized
- Intervention Model: Parallel Assignment
- Masking: Quadruple (Participant, Care Provider, Investigator, Outcomes Assessor)
- Primary Purpose: Treatment
|
- Percentage of Subjects Achieving Alanine Aminotransferase (ALT) Normalization
- Percentage Change From Baseline in LDL-c
- Percentage Change From Baseline in Non-HDL-c
- (and 6 more...)
|
66 |
All |
4 Years and older (Child, Adult, Senior) |
NCT01757184 |
LAL-CL02 |
|
January 2013 |
January 2019 |
January 2019 |
December 28, 2012 |
March 20, 2017 |
April 18, 2016 |
- Tucson, Arizona, United States
- Palo Alto, California, United States
- San Francisco, California, United States
- (and 51 more...)
|
| 12 |
NCT01488097 |
Active, not recruiting
Has Results |
Extension Study to Evaluate the Long-Term Safety, Tolerability, and Efficacy of SBC-102 (Sebelipase Alfa) in Adult Subjects With Lysosomal Acid Lipase Deficiency |
- Cholesterol Ester Storage Disease(CESD)
- Lysosomal Acid Lipase Deficiency
|
- Drug: SBC-102 (sebelipase alfa)
|
Interventional |
Phase 2 |
|
Industry |
- Allocation: Non-Randomized
- Intervention Model: Single Group Assignment
- Masking: None (Open Label)
- Primary Purpose: Treatment
|
- ALT and AST Changes From Baseline
- Change From Baseline in Liver Volume
- Change From Baseline in Liver Fat Content
- (and 4 more...)
|
8 |
All |
18 Years to 65 Years (Adult) |
NCT01488097 |
LAL-CL04 |
|
November 2011 |
March 2014 |
June 2017 |
December 8, 2011 |
March 6, 2017 |
May 9, 2016 |
- Eureka, California, United States
- San Francisco, California, United States
- Minneapolis, Minnesota, United States
- (and 5 more...)
|
| 13 |
NCT01307098 |
Completed |
Safety, Tolerability and Pharmacokinetics of SBC-102 (Sebelipase Alfa) in Adult Patients With Lysosomal Acid Lipase Deficiency |
- Cholesterol Ester Storage Disease(CESD)
- Lysosomal Acid Lipase Deficiency
|
- Drug: SBC-102 (sebelipase alfa)
|
Interventional |
Phase 1 |
|
Industry |
- Allocation: Non-Randomized
- Intervention Model: Single Group Assignment
- Masking: None (Open Label)
- Primary Purpose: Treatment
|
- Safety and Tolerability of SBC-102 (sebelipase alfa)
- Pharmacokinetics of SBC-102 (sebelipase alfa)
|
9 |
All |
18 Years to 65 Years (Adult) |
NCT01307098 |
LAL-CL01 |
|
May 2011 |
January 2012 |
January 2012 |
March 2, 2011 |
July 27, 2016 |
|
- Stanford University
Palo Alto, California, United States - Mount Sinai School of Medicine
New York, New York, United States - University of Pittsburg
Pittsburgh, Pennsylvania, United States - (and 4 more...)
|
| 14 |
NCT02383641 |
Recruiting |
Biomarker for Wolman Disease |
- Wolman Disease
- Acid Lipase Deficiency
- Acid Cholesteryl Ester Hydrolase Deficiency, Wolman Type
- Cholesterol Ester Storage Disease
|
|
Observational |
|
- University of Rostock
- Centogene AG Rostock
|
Other / Industry |
- Observational Model: Cohort
- Time Perspective: Prospective
|
- Development of a new MS-based biomarker for the early and sensitive diagnosis of Wolman disease using the technique of Mass-spectometry 7,5 ml EDTA blood, saliva tube and a dry blood spot filter card
- Testing for clinical robustness, specificity and long-term stability of the biomarker
|
100 |
All |
2 Months and older (Child, Adult, Senior) |
NCT02383641 |
BWD 04-2015 |
BioWolman |
March 2015 |
March 2020 |
March 2020 |
March 9, 2015 |
July 5, 2017 |
|
- Albrecht-Kossel-Institute for Neuroregeneration (AKos) Centre for Mental Health Disease University of Rostock
Rostock, Germany
|
| 15 |
NCT02707211 |
Unknown † |
Anti-oxLDL IgM Antibodies as a Novel Therapy for Metabolic Lipid Diseases |
- Lipid Metabolism, Inborn Errors
|
- Biological: Anti-oxLDL IgM antibody
|
Interventional |
Early Phase 1 |
- Universitaire Ziekenhuizen Leuven
|
Other |
- Intervention Model: Single Group Assignment
- Masking: None (Open Label)
- Primary Purpose: Treatment
|
- The level of inflammation
- Levels of lysosomal enzymes
- the level of cholesterol metabolism
|
20 |
All |
2 Years to 64 Years (Child, Adult) |
NCT02707211 |
Pfizer-Prevenar13-2015 |
|
June 2016 |
February 2017 |
February 2017 |
March 14, 2016 |
March 15, 2016 |
|
- UZ Leuven
Leuven, Vlaams-brabant, Belgium
|
| 16 |
NCT02345421 |
Terminated |
A Study to Identify and Characterize LAL-D Patients in High-risk Populations |
- Lysosomal Acid Lipase Deficiency
|
|
Observational |
|
|
Industry |
- Observational Model: Case-Only
|
- LAL D frequency based on LAL enzyme assay.
|
640 |
All |
2 Years and older (Child, Adult, Senior) |
NCT02345421 |
LAL-CSS01 |
|
December 2014 |
September 2015 |
October 2015 |
January 26, 2015 |
May 24, 2016 |
|
- Birmingham, Alabama, United States
- Phoenix, Arizona, United States
- Los Angeles, California, United States
- (and 12 more...)
|
| 17 |
NCT01884220 |
Completed |
Wolman/CESD Natural History Chart Review and Longitudinal Follow-Up |
- Wolman Disease
- Cholesterol Ester Storage Disease
- Acid Cholesteryl Ester Hydrolase Deficiency, Type 2
|
- Other: There are no interventions in this study.
|
Observational |
|
- Children's Hospital Medical Center, Cincinnati
- Rare Diseases Clinical Research Network
- National Center for Advancing Translational Science (NCATS)
- (and 2 more...)
|
Other / NIH |
- Observational Model: Cohort
|
- Change in Organ Measurements using Ultrasound Imaging
- Change in Organ Measurements using X-Ray Imaging
- Change in Organ Measurements using Computerized Tomography
- (and 5 more...)
|
4 |
All |
Child, Adult, Senior |
NCT01884220 |
LDN6706
U54NS065768 |
|
November 2010 |
May 2014 |
May 2014 |
June 21, 2013 |
July 28, 2015 |
|
- Cincinnati Children's Hospital Medical Center
Cincinnati, Ohio, United States
|
| 18 |
NCT02851550 |
Recruiting |
Assessement of the Prevalence of Lysosomal Acid Lipase Deficiency in Liver Post-transplant Patients |
- Liver Post-transplant Patients
|
|
Observational |
|
|
Other |
- Observational Model: Cohort
- Time Perspective: Prospective
|
- Prevalence of Lysosomal Acid Lipase deficiency in liver post-transplant patients
|
100 |
All |
18 Years and older (Adult, Senior) |
NCT02851550 |
69HCL16_0485 |
LALTH-2 |
December 2015 |
December 2017 |
June 2018 |
August 1, 2016 |
August 1, 2016 |
|
- Hépato-Gastro-Entérologie, Hôpital de la Croix Rousse, 103 gde rue de la Croix Rousse
Lyon, France
|
| 19 |
NCT02852304 |
Recruiting |
Assessment of the Prevalence of Lysosomal Acid Lipase Deficiency in Patients Waiting for a Liver Transplant. |
- Patients Waiting for a Liver Transplant.
|
|
Observational |
|
|
Other |
- Observational Model: Cohort
- Time Perspective: Prospective
|
- Deficiency Lysosomal Acid Lipase prevalence in patients waiting for a liver transplant
|
100 |
All |
18 Years and older (Adult, Senior) |
NCT02852304 |
69HCL16_0428 |
LALTH-1 |
October 2015 |
October 2017 |
March 2018 |
August 2, 2016 |
August 2, 2016 |
|
- Hépato-Gastro-Entérologie, Hôpital de la Croix Rousse, 103 gde rue de la Croix Rousse
Lyon, France
|
| 20 |
NCT01791452 |
Unknown † |
Novel Association of Cholesterol Ester Storage Disease Due to Lysosomal Acid Lipase Deficiency and Non-Alcoholic Fatty Liver Disease: A Prospective Clinical Study |
- Non-alcoholic Fatty Liver Disease
- Cholesterol Ester Storage Disease
|
|
Observational |
|
|
Other |
- Time Perspective: Prospective
|
- liver ultrasound, ultrasound Doppler of the common carotid artery, hepatic Fibroscan evaluation (transient elastography) for assessment of steatosis and fibrosis
|
|
All |
18 Years to 80 Years (Adult, Senior) |
NCT01791452 |
0042-12-ZIV |
|
|
February 2014 |
|
February 15, 2013 |
February 15, 2013 |
|
|
| 21 |
NCT00092898 |
Completed |
An Investigational Drug Study to Lower Non-Cholesterol Sterol Levels Associated With Sitosterolemia (0653-062)(COMPLETED) |
- Lipid Metabolism, Inborn Errors
- Heart Disease
|
- Drug: MK0653, ezetimibe
- Drug: Comparator: placebo
|
Interventional |
Phase 3 |
- Merck Sharp & Dohme Corp.
|
Industry |
- Allocation: Randomized
- Intervention Model: Parallel Assignment
- Masking: Double (Participant, Investigator)
- Primary Purpose: Treatment
|
- Sitosterol concentrations after 26 weeks.
- Campesterol concentrations; Achilles tendon thickness; safety and tolerability.
|
30 |
All |
18 Years to 85 Years (Adult, Senior) |
NCT00092898 |
0653-062
MK0653-062
2004_038 |
|
October 2004 |
September 2005 |
October 2005 |
September 28, 2004 |
March 10, 2017 |
|
|
| 22 |
NCT00092820 |
Completed |
Sitosterolemia Extension Study (0653-004)(COMPLETED) |
- Lipid Metabolism, Inborn Errors
- Heart Disease
|
- Drug: MK0653, ezetimibe
- Drug: Comparator: placebo
|
Interventional |
Phase 3 |
- Merck Sharp & Dohme Corp.
|
Industry |
- Allocation: Randomized
- Intervention Model: Parallel Assignment
- Masking: Double (Participant, Investigator)
- Primary Purpose: Treatment
|
- Plasma sitosterol levels after 52 weeks.
- Plasma LDL-C and plasma campesterol. Safety and tolerability.
|
58 |
All |
10 Years and older (Child, Adult, Senior) |
NCT00092820 |
P02243
2004_033 |
|
February 12, 2001 |
September 18, 2001 |
November 30, 2004 |
September 28, 2004 |
May 11, 2017 |
|
|
| 23 |
NCT00092807 |
Completed |
Sitosterolemia Extension Study (0653-003)(COMPLETED) |
- Lipid Metabolism, Inborn Errors
- Heart Disease
|
- Drug: MK0653, ezetimibe
- Drug: Comparator: placebo
|
Interventional |
Phase 3 |
- Merck Sharp & Dohme Corp.
|
Industry |
- Primary Purpose: Treatment
|
- To assess the percent change relative to baseline in plasma sitosterol concentration after long-term treatment with MK0653 10 mg/day.
- Assess the percent change relative to baseline in LDL-C/plasma campesterol concentrations, and safety and tolerability after long-term treatment with MK0653 10 mg/day in patients with homozygous sitosterolemia
|
37 |
All |
10 Years and older (Child, Adult, Senior) |
NCT00092807 |
P02257
2004_032 |
|
February 12, 2001 |
September 18, 2001 |
November 30, 2004 |
September 28, 2004 |
May 11, 2017 |
|
|
| 24 |
NCT00092833 |
Terminated |
Investigational Drug in Patients With Hypercholesterolemia or in Patients With Sitosterolemia (0653-026)(COMPLETED) |
- Hypercholesterolemia, Familial
- Lipid Metabolism, Inborn Errors
|
- Drug: Comparator: ezetimibe
|
Interventional |
Phase 3 |
- Merck Sharp & Dohme Corp.
|
Industry |
- Allocation: Non-Randomized
- Intervention Model: Single Group Assignment
- Masking: None (Open Label)
- Primary Purpose: Treatment
|
- Incidence of clinical and laboratory adverse experiences in in patients with homozygous FH or homozygous sitosterolemia taking ezetimibe 10 mg/day
|
49 |
All |
8 Years and older (Child, Adult, Senior) |
NCT00092833 |
0653-026
2004_034 |
|
July 2002 |
May 2005 |
May 2005 |
September 28, 2004 |
February 28, 2017 |
|
|
| 25 |
NCT00004481 |
Completed |
Genetic Study of Sitosterolemia |
- Lipid Metabolism, Inborn Errors
- Sitosterolemia
|
- Procedure: genetic testing
|
Observational |
|
- National Center for Research Resources (NCRR)
- Medical University of South Carolina
|
NIH / Other |
- Observational Model: Natural History
|
|
|
All |
Child, Adult, Senior |
NCT00004481 |
NCRR-M01RR01070-0470
MUSC-HR-8022 |
|
November 1999 |
|
|
October 19, 1999 |
June 24, 2005 |
|
- Medical University of South Carolina
Charleston, South Carolina, United States
|
| 26 |
NCT01633489 |
Recruiting |
Lysosomal Acid Lipase (LAL) Deficiency Registry |
- Lysosomal Acid Lipase Deficiency
- Cholesterol Ester Storage Disease
- Wolman Disease
- (and 4 more...)
|
|
Observational |
|
|
Industry |
- Observational Model: Cohort
- Time Perspective: Prospective
|
- Understanding of the variability, progression, identification and natural history of LAL Deficiency.
|
1000 |
All |
Child, Adult, Senior |
NCT01633489 |
ALX-LALD-501 |
ALX-LALD-501 |
December 2012 |
June 2029 |
June 2029 |
July 4, 2012 |
March 2, 2018 |
|
- Stanford, California, United States
- Decatur, Georgia, United States
- Chicago, Illinois, United States
- (and 25 more...)
|
| 27 |
NCT01782027 |
Suspended |
Mendelian Reverse Cholesterol Transport Study |
- Cholesterol, HDL
- Lipid Metabolism, Inborn Errors
- Tangier Disease
- (and 2 more...)
|
- Drug: 3H-cholesterol bound to albumin
|
Interventional |
Not Applicable |
- University of Pennsylvania
|
Other |
- Intervention Model: Single Group Assignment
- Masking: None (Open Label)
- Primary Purpose: Basic Science
|
- determination of 3H cholesterol in plasma and lipoproteins
- determination of 3H cholesterol and its metabolites in red blood cells over time
|
30 |
All |
18 Years to 75 Years (Adult, Senior) |
NCT01782027 |
815075 |
|
October 2012 |
January 2019 |
January 2019 |
February 1, 2013 |
July 27, 2017 |
|
- University of Pennsylvania
Philadelphia, Pennsylvania, United States
|
| 28 |
NCT00260299 |
Unknown † |
Dietary Cholesterol and Defects in Cholesterol Synthesis in Mevalonate Kinase Deficiency |
- Mevalonic Aciduria
- Mevalonate Kinase Deficiency
- Immune System Diseases
- (and 2 more...)
|
|
Observational |
|
- Oregon Health and Science University
|
Other |
- Observational Model: Case-Only
- Time Perspective: Prospective
|
- Determine the effects of dietary cholesterol changes in MKD on cholesterol and related synthetic pathways
- Define genotype, phenotype and response to dietary cholesterol. Determine genotype-therapy correlations.
|
15 |
All |
Child, Adult, Senior |
NCT00260299 |
MKD dietary study |
|
February 2005 |
|
December 2012 |
December 1, 2005 |
March 23, 2012 |
|
- Oregon Health & Science University
Portland, Oregon, United States
|
| 29 |
NCT00005900 |
Unknown † |
Study of Pulmonary Complications in Pediatric Patients With Storage Disorders Undergoing Allogeneic Hematopoietic Stem Cell Transplantation |
- I Cell Disease
- Fucosidosis
- Globoid Cell Leukodystrophy
- (and 9 more...)
|
|
Observational |
|
- Fairview University Medical Center
- Office of Rare Diseases (ORD)
|
Other |
- Primary Purpose: Screening
|
|
10 |
All |
Child, Adult, Senior |
NCT00005900 |
199/15111
UMN-MT-1999-18
UMN-MT-9818 |
|
August 1999 |
|
|
June 5, 2000 |
June 24, 2005 |
|
- Fairview University Medical Center
Minneapolis, Minnesota, United States
|
| 30 |
NCT03198897 |
Recruiting |
Biomarker for Homozygous Familial Hypercholesterolemia |
- Genetic Disorder
- Familial Hypercholesterolaemia
- Lipoprotein Lipase Deficiency
- (and 2 more...)
|
|
Observational |
|
- University of Rostock
- Centogene AG Rostock
|
Other / Industry |
- Observational Model: Cohort
- Time Perspective: Prospective
|
- The diagnosis of homozygous familial Hypercholesterolemia measured by sequencing of homozygous familial Hypercholesterolemia
- Number of correct identified patients with homozygous familial Hypercholesterolemia
|
20 |
All |
2 Months and older (Child, Adult, Senior) |
NCT03198897 |
BHFH 04-2017 |
BioHoFH |
June 1, 2017 |
June 2020 |
July 2020 |
June 26, 2017 |
July 26, 2017 |
|
- University of Rostock, Albrecht Kossel Institute
Rostock, Germany - NIRMA, University of Mumbai
Mumbai, India
|
| 31 |
NCT01586455 |
Active, not recruiting |
Human Placental-Derived Stem Cell Transplantation |
- Mucopolysaccharidosis I
- Mucopolysaccharidosis VI
- Adrenoleukodystrophy
- (and 13 more...)
|
- Drug: Human Placental Derived Stem Cell
|
Interventional |
Phase 1 |
|
Other |
- Allocation: Non-Randomized
- Intervention Model: Single Group Assignment
- Masking: None (Open Label)
- Primary Purpose: Treatment
|
- Safety
- donor chimerism
- engraftment
- (and 3 more...)
|
43 |
All |
up to 55 Years (Child, Adult) |
NCT01586455 |
NYMC 550
NYMC IRB L-10,733 |
HPDSC |
April 2013 |
December 2018 |
December 2019 |
April 26, 2012 |
December 22, 2017 |
|
- Children's Hospital Colorado
Denver, Colorado, United States - New York Medical College
Valhalla, New York, United States - University of Utah
Salt Lake City, Utah, United States
|
| 32 |
NCT00668564 |
Terminated
Has Results |
Hematopoietic Stem Cell Transplantation (HCT) for Inborn Errors of Metabolism |
- Hurler's Syndrome
- Maroteaux-Lamy Syndrome
- Sly Syndrome
- (and 8 more...)
|
- Procedure: Stem Cell Transplantation
- Drug: Cyclophosphamide
- Drug: Campath-1H
- Drug: Busulfan
|
Interventional |
Phase 2 |
- Masonic Cancer Center, University of Minnesota
|
Other |
- Intervention Model: Single Group Assignment
- Masking: None (Open Label)
- Primary Purpose: Treatment
|
- Number of Patients Achieving Engraftment
- Overall Survival
|
18 |
All |
up to 21 Years (Child, Adult) |
NCT00668564 |
MT2008-02
0801M25202 |
|
March 2008 |
February 2010 |
February 2010 |
April 29, 2008 |
December 28, 2017 |
July 13, 2011 |
- University of Minnesota, Fairview
Minneapolis, Minnesota, United States
|
| 33 |
NCT00383448 |
Completed |
HSCT for High Risk Inherited Inborn Errors |
- Adrenoleukodystrophy
- Metachromatic Leukodystrophy
- Globoid Cell Leukodystrophy
- (and 6 more...)
|
- Drug: Clofarabine
- Procedure: Total body Irradiation
- Drug: Melphalan
- (and 5 more...)
|
Interventional |
Phase 2 |
- Masonic Cancer Center, University of Minnesota
|
Other |
- Intervention Model: Single Group Assignment
- Masking: None (Open Label)
- Primary Purpose: Treatment
|
- Donor Cell Engraftment
- Transplant Related Mortality
- Concentrations of mycophenylate mofetil (MMF)
- (and 4 more...)
|
39 |
All |
up to 70 Years (Child, Adult, Senior) |
NCT00383448 |
MT2006-14
0606M87246 |
|
September 2006 |
September 2014 |
September 2014 |
October 3, 2006 |
April 24, 2015 |
|
- Masonic Cancer Center, University of Minnesota
Minneapolis, Minnesota, United States
|
| 34 |
NCT00176904 |
Completed
Has Results |
Stem Cell Transplant for Inborn Errors of Metabolism |
- Adrenoleukodystrophy
- Metachromatic Leukodystrophy
- Globoid Cell Leukodystrophy
- (and 8 more...)
|
- Procedure: Stem Cell Transplant
- Drug: Busulfan, Cyclophosphamide, Antithymocyte Globulin
|
Interventional |
Phase 2
Phase 3 |
- Masonic Cancer Center, University of Minnesota
|
Other |
- Allocation: Non-Randomized
- Intervention Model: Single Group Assignment
- Masking: None (Open Label)
- Primary Purpose: Treatment
|
- Overall Survival
- Overall Donor Engraftment
- Number of Patients With Grade II-IV Acute Graft-Versus-Host Disease
- (and 2 more...)
|
135 |
All |
Child, Adult, Senior |
NCT00176904 |
MT1995-01 |
|
January 1995 |
June 2010 |
June 2010 |
September 15, 2005 |
December 28, 2017 |
June 10, 2011 |
- Masonic Cancer Center, University of Minnesota
Minneapolis, Minnesota, United States
|
| 35 |
NCT03393130 |
Not yet recruiting |
Perioperative Research Into Memory, Genomics in the Intensive Therapy Unit: Alzheimer's |
- Cognitive Impairment
- Apolipoprotein E, Deficiency or Defect of
- Critical Illness
- (and 2 more...)
|
- Diagnostic Test: APOE genotyping
|
Observational |
|
- Chelsea and Westminster NHS Foundation Trust
|
Other |
- Observational Model: Cohort
- Time Perspective: Prospective
|
- APOE genotype
- Cognitive impairment
- Short Form of the Informant Questionnaire on Cognitive Decline in the Elderly score
- (and 5 more...)
|
150 |
All |
18 Years to 25 Years (Adult) |
NCT03393130 |
C&W17/059 |
PRIMoGenITA |
February 1, 2018 |
February 1, 2019 |
December 1, 2019 |
January 8, 2018 |
January 8, 2018 |
|
|
| 36 |
NCT01916512 |
Unknown † |
Relationship Between CETP Deficiency and Atherosclerosis in Patients With Hyperalphalipoproteinemia |
- Low CETP Activity
- CETP Deficiency
- Hyperalphalipoproteinemia
- (and 2 more...)
|
|
Observational |
|
- Osaka University
- Merck Sharp & Dohme Corp.
|
Other / Industry |
- Observational Model: Case-Control
- Time Perspective: Cross-Sectional
|
- Difference of Ischemic changes of ECG among subjects with low/high CETP mass/activity and HDL-C level
- Difference of Calc Score of Aorta by Chest X-ray among subjects with low/high CETP mass/activity and HDL-C level
- Difference of Ankle Brachial Index (ABI) among subjects with low/high CETP mass/activity and HDL-C level
- (and 22 more...)
|
1500 |
All |
40 Years to 100 Years (Adult, Senior) |
NCT01916512 |
INFINITY |
INFINITY |
February 2012 |
March 2016 |
|
August 5, 2013 |
April 15, 2015 |
|
- Osaka University Graduate School of Medicine
Suita, Osaka, Japan
|
| 37 |
NCT01948648 |
Not yet recruiting |
Effects of Fish Oil and Colesevelam |
|
- Drug: Colesevelam
- Dietary Supplement: Fish Oil
- Drug: Combination of fish oil and colesevelam
|
Interventional |
Not Applicable |
|
Other |
- Allocation: Randomized
- Intervention Model: Crossover Assignment
- Masking: Single (Participant)
- Primary Purpose: Basic Science
|
- Plasma plant sterol level
- Fatty acid
- endothelial functions
|
16 |
All |
12 Years and older (Child, Adult, Senior) |
NCT01948648 |
B2013:075 |
|
October 2016 |
December 2017 |
December 2017 |
September 23, 2013 |
August 31, 2016 |
|
- Richardson Center for Functional Foods and Nutraceuticals
Winnipeg, Manitoba, Canada
|
| 38 |
NCT01584206 |
Unknown † |
Sitosterolemia Metabolism |
|
|
Interventional |
Not Applicable |
|
Other |
- Intervention Model: Single Group Assignment
- Masking: None (Open Label)
- Primary Purpose: Basic Science
|
- Plasma cholesterol level
- Plasma sitosterol level
- Cholesterol absorption
- Cholesterol synthesis
|
8 |
All |
16 Years to 99 Years (Child, Adult, Senior) |
NCT01584206 |
B2011:051 |
STAIR7002 |
April 2012 |
August 2013 |
December 2016 |
April 24, 2012 |
March 10, 2016 |
|
- Richardson Centre for Functional Foods and Nutraceuticals
Winnipeg, Manitoba, Canada
|
| 39 |
NCT02635269 |
Recruiting |
Fat and Sugar Metabolism During Exercise in Patients With Metabolic Myopathy |
- Metabolism, Inborn Errors
- Lipid Metabolism, Inborn Errors
- Carbohydrate Metabolism, Inborn Errors
- (and 20 more...)
|
|
Interventional |
Not Applicable |
|
Other |
- Intervention Model: Single Group Assignment
- Masking: None (Open Label)
- Primary Purpose: Basic Science
|
- Total fat oxidation (rate of disappearance) during prolonged moderate intensity exercise. Measured as micro mol per kg per minute.
- Maximal oxidative capacity (mL*kg-1*minutes-1)
- Endurance measured as minutes:seconds
- (and 5 more...)
|
128 |
All |
15 Years to 80 Years (Child, Adult, Senior) |
NCT02635269 |
Metabolic Myopathy
H-15015150 |
|
January 2016 |
August 2020 |
December 2020 |
December 18, 2015 |
September 1, 2017 |
|
- Neuromuscular Research Unit, 3342
Copenhagen, Denmark
|
| 40 |
NCT00694109 |
Completed
Has Results |
An Open-label Extension Study to Assess the Long-term Safety and Efficacy of ISIS 301012 (Mipomersen) in Patients With Familial Hypercholesterolemia or Severe-Hypercholesterolemia |
- Lipid Metabolism, Inborn Errors
- Hypercholesterolemia, Autosomal Dominant
- Hyperlipidemias
- (and 11 more...)
|
|
Interventional |
Phase 3 |
- Kastle Therapeutics, LLC
- Ionis Pharmaceuticals, Inc.
|
Industry |
- Intervention Model: Single Group Assignment
- Masking: None (Open Label)
- Primary Purpose: Treatment
|
- Percent Change From Baseline in Low Density Lipoprotein Cholesterol (LDL-C)
- Percent Change From Baseline in Apolipoprotein B (Apo B)
- Percent Change From Baseline in Total Cholesterol
- (and 18 more...)
|
144 |
All |
12 Years and older (Child, Adult, Senior) |
NCT00694109 |
301012-CS6
2005-003450-10 |
|
April 2008 |
September 2014 |
September 2014 |
June 10, 2008 |
September 9, 2016 |
December 21, 2015 |
- Mission Viejo, California, United States
- Newport Beach, California, United States
- Bridgeport, Connecticut, United States
- (and 30 more...)
|
| 41 |
NCT00607373 |
Completed
Has Results |
Study to Assess the Safety and Efficacy of ISIS 301012 (Mipomersen) in Homozygous Familial Hypercholesterolemia |
- Lipid Metabolism, Inborn Errors
- Hypercholesterolemia, Autosomal Dominant
- Hyperlipidemias
- (and 11 more...)
|
- Drug: mipomersen
- Drug: Placebo
|
Interventional |
Phase 3 |
- Kastle Therapeutics, LLC
- Ionis Pharmaceuticals, Inc.
|
Industry |
- Allocation: Randomized
- Intervention Model: Parallel Assignment
- Masking: Quadruple (Participant, Care Provider, Investigator, Outcomes Assessor)
- Primary Purpose: Treatment
|
- Percent Change From Baseline in Low-density Lipoprotein Cholesterol (LDL-C) at Primary Efficacy Time Point
- LDL-C at Baseline and the Primary Efficacy Time Point (PET)
- Percent Change From Baseline in Apolipoprotein B (Apo-B) at Primary Efficacy Time Point
- (and 5 more...)
|
51 |
All |
12 Years and older (Child, Adult, Senior) |
NCT00607373 |
301012CS5
2005-003449-15 |
RADICHOL 1 |
July 2007 |
March 2009 |
March 2009 |
February 5, 2008 |
September 9, 2016 |
March 21, 2013 |
- Charlotte, North Carolina, United States
- Cincinnati, Ohio, United States
- Sao Paulo, SP, Brazil
- (and 7 more...)
|
| 42 |
NCT00477594 |
Completed
Has Results |
Open Label Extension of ISIS 301012 (Mipomersen) to Treat Familial Hypercholesterolemia |
- Lipid Metabolism, Inborn Errors
- Hypercholesterolemia, Autosomal Dominant
- Hyperlipidemias
- (and 11 more...)
|
|
Interventional |
Phase 2 |
- Kastle Therapeutics, LLC
- Ionis Pharmaceuticals, Inc.
|
Industry |
- Allocation: Randomized
- Intervention Model: Parallel Assignment
- Masking: None (Open Label)
- Primary Purpose: Treatment
|
- Percent Change From Baseline in Low-density Lipoprotein Cholesterol (LDL-C)
- Low-density Lipoprotein Cholesterol (LDL-C) Over Time
- Percent Change From Baseline in Apolipoprotein B
- (and 11 more...)
|
21 |
All |
12 Years and older (Child, Adult, Senior) |
NCT00477594 |
301012-CS17
2007-001024-12 |
|
May 2007 |
March 2011 |
July 2011 |
May 24, 2007 |
September 9, 2016 |
April 5, 2013 |
- Chicago, Illinois, United States
- Auburn, Maine, United States
- Biddeford, Maine, United States
- (and 2 more...)
|
| 43 |
NCT00362180 |
Completed
Has Results |
Measure Liver Fat Content After ISIS 301012 (Mipomersen) Administration |
- Lipid Metabolism, Inborn Errors
- Hyperlipidemias
- Metabolic Diseases
- (and 11 more...)
|
- Drug: mipomersen
- Drug: Placebo
|
Interventional |
Phase 2 |
- Kastle Therapeutics, LLC
- Ionis Pharmaceuticals, Inc.
|
Industry |
- Allocation: Randomized
- Intervention Model: Parallel Assignment
- Masking: Quadruple (Participant, Care Provider, Investigator, Outcomes Assessor)
- Primary Purpose: Treatment
|
- Change From Baseline in Liver Triglyceride (TG) Content As Measured by Magnetic Resonance Spectroscopy (MRS)
- Baseline Apolipoprotein B
- Percent Change in Apolipoprotein B From Baseline to Day 99
- (and 4 more...)
|
38 |
All |
18 Years to 65 Years (Adult) |
NCT00362180 |
301012-CS10
2005-005783-90 |
|
July 2006 |
March 2010 |
September 2010 |
August 9, 2006 |
October 21, 2016 |
June 24, 2015 |
|
| 44 |
NCT02327364 |
Enrolling by invitation |
Natural History of Pearson Syndrome |
|
|
Observational |
|
- The Cleveland Clinic
- National Institutes of Health (NIH)
|
Other / NIH |
- Observational Model: Cohort
- Time Perspective: Prospective
|
- Track patients with Pearson Syndrome longitudinally
- Determine genetic and clinical predictors of Pearson Syndrome course
|
25 |
All |
Child, Adult, Senior |
NCT02327364 |
NAMDC7408 |
|
March 2014 |
September 2020 |
September 2020 |
December 30, 2014 |
November 8, 2017 |
|
|
| 45 |
NCT02104336 |
Terminated |
Phase 2 Study of EPI-743 in Children With Pearson Syndrome |
|
|
Interventional |
Phase 2 |
- Edison Pharmaceuticals Inc
|
Industry |
- Intervention Model: Single Group Assignment
- Masking: None (Open Label)
- Primary Purpose: Treatment
|
- Occurrence of episodes of sepsis, metabolic crisis or hepatic failure
- Transfusion avoidance
- Hematologic function
- (and 8 more...)
|
10 |
All |
up to 18 Years (Child, Adult) |
NCT02104336 |
EPI743-13-024 |
|
August 2014 |
November 2015 |
February 2016 |
April 4, 2014 |
March 21, 2016 |
|
- Children's Hospital of Orange County
Orange, California, United States - Gregory Enns
Stanford University, California, United States - Cleveland Clinic
Cleveland, Ohio, United States - (and 2 more...)
|
| 46 |
NCT00983788 |
Completed |
Effect of Bezafibrate on Muscle Metabolism in Patients With Fatty Acid Oxidation Defects |
- Carnitine Palmitoyltransferase II Deficiency
- Very Long Chain Acyl Coa Dehydrogenase Deficiency
|
- Drug: Bezafibrate
- Other: Placebo
|
Interventional |
Phase 2 |
- Rigshospitalet, Denmark
- Groupe Hospitalier Pitie-Salpetriere
|
Other |
- Allocation: Randomized
- Intervention Model: Crossover Assignment
- Masking: Quadruple (Participant, Care Provider, Investigator, Outcomes Assessor)
- Primary Purpose: Treatment
|
- Fatty acid oxidation
- Heart rate
|
12 |
All |
18 Years to 70 Years (Adult, Senior) |
NCT00983788 |
EudraCT: 2008-006704-27 |
Bezafibrate |
October 2009 |
September 2011 |
September 2011 |
September 24, 2009 |
May 30, 2012 |
|
- Neuromusculare Research Unit, Rigshospitalet
Copenhagen, Denmark
|
| 47 |
NCT02298673 |
Recruiting |
Biomarker for Mucolipidosis Disorder Type I, II, III or IV |
- Mucolipidosis Type I
- Mucolipidosis Type II
- Mucolipidosis Type III
- (and 2 more...)
|
|
Observational |
|
- University of Rostock
- Centogene AG Rostock
|
Other / Industry |
- Observational Model: Cohort
- Time Perspective: Prospective
|
- Development of a new MS-based biomarker for the early and sensitive diagnosis of Mucolipidosis disorder type I, II, III or IV from plasma and saliva
- Testing for clinical robustness, specificity and long-term stability of the biomarker
|
50 |
All |
2 Months and older (Child, Adult, Senior) |
NCT02298673 |
BML 04-2014 |
BioML |
November 2014 |
November 2019 |
December 2019 |
November 24, 2014 |
February 6, 2018 |
|
- Albrecht-Kossel-Institute for Neuroregeneration (AKos) Centre for Mental Health Disease University of Rostock
Rostock, Germany
|
| 48 |
NCT02416661 |
Recruiting |
LYSO-PROVE - Determine the Prognostic Value of Lyso-Gb1 for Monitoring the Progress of Gaucher Disease |
- Lysosomal Storage Diseases
- Gaucher Disease
- Sphingolipidoses
|
|
Observational |
|
- University of Rostock
- Centogene AG Rostock
|
Other / Industry |
- Observational Model: Cohort
- Time Perspective: Prospective
|
- To demonstrate the correlation and predictive value of lyso-Gb1 concentration with the clinical severity of naïve, initially non-ERT/SRT Gaucher disease type 1 and during the study ERT/SRT-newly started Gaucher type 1 patients
- To correlate lyso-Gb1 concentration with the clinical improvement of ERT or SRT treated Gaucher type 1 and the clinical course of non-treated patients based on GD-DS3,Quality of life measured with the SF-36
|
250 |
All |
6 Months and older (Child, Adult, Senior) |
NCT02416661 |
LP 03-2015 |
LYSO-PROVE |
March 2015 |
April 2019 |
May 2019 |
April 15, 2015 |
May 5, 2017 |
|
- Pediatric department Debaghine's Hospital Universitary Hospital Center of Bab-El-Oued
Algiers, Algeria - Hôpital de Ben Aknoun BOUKHROUFA Abdelkader Service Rhumatologie
Algiers, Algeria - internal Medecine, Dr Mohammad-Lamine"sDebaghine, Universitary Hosspital Center,Bab-El-Oued
Algiers, Algeria - (and 17 more...)
|
| 49 |
NCT02918032 |
Recruiting |
International Registry Study of Neutral Lipid Storage Disease (NLSD) / Triglyceride Deposit Cardiomyovasculopathy (TGCV) and Related Diseases |
- Neutral Lipid Storage Disease
|
|
Observational |
|
- Translational Research Center for Medical Innovation, Kobe, Hyogo, Japan
|
Other |
- Observational Model: Cohort
- Time Perspective: Other
|
- Period from the onset of symptoms of NLSD / TGCV to death from any cause
- Serum CK(Creatine Kinase) level
- Serum BNP(B-type Natriuretic Peptide) level
- (and 37 more...)
|
100 |
All |
Child, Adult, Senior |
NCT02918032 |
TRICVD1315 |
|
January 2014 |
December 2018 |
October 2020 |
September 28, 2016 |
December 19, 2017 |
|
- Stanford University
Stanford, California, United States - Columbia University
New York, New York, United States - University of Graz
Graz, Steiermark, Austria - (and 12 more...)
|
| 50 |
NCT02830763 |
Enrolling by invitation |
Clinical Study on the Safety of CNT-02 for TGCV and NLSD-M |
- Primary Triglyceride Deposit Cardiomyovasculopathy (TGCV)
- Neutral Lipid Storage Disease With Myopathy (NLSD-M)
|
- Dietary Supplement: CNT-02
|
Interventional |
Not Applicable |
- Translational Research Center for Medical Innovation, Kobe, Hyogo, Japan
|
Other |
- Intervention Model: Single Group Assignment
- Masking: None (Open Label)
- Primary Purpose: Treatment
|
- The maximum walking distance in a 6-minute walk test at 3 months
- The maximum walking distance in a 6-minute walk test at 6 months
- MRC sum score in manual muscle testing (MMT) at 3 months
- (and 9 more...)
|
10 |
All |
20 Years and older (Adult, Senior) |
NCT02830763 |
TRICVD1527
UMIN000023043 |
|
September 5, 2016 |
May 2021 |
May 2021 |
July 13, 2016 |
December 19, 2017 |
|
- IRCCS San Raffaele
Rome, Lazio, Italy - San Filippo Neri Hospital
Rome, Lazio, Italy - Catholic University
Milano, Lombardia, Italy - (and 4 more...)
|
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