1 |
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...)
|
2 |
NCT01527318 |
Completed |
The Effect of Fibrate Therapy in Two Patients With Neutral Lipid Storage Disease With Myopathy (NLSDM) |
- Neutral Lipid Storage Disease
|
|
Interventional |
Phase 4 |
- Maastricht University Medical Center
|
Other |
- Allocation: Non-Randomized
- Intervention Model: Parallel Assignment
- Masking: None (Open Label)
- Primary Purpose: Treatment
|
- mitochondrial function
- lipid accumulation
- Cardiac function
- Insulin sensitivity
|
6 |
All |
18 Years to 70 Years (Adult, Senior) |
NCT01527318 |
MEC 11-3-013 |
NLSDM |
August 2011 |
December 2012 |
December 2012 |
February 7, 2012 |
May 14, 2013 |
|
- Maastricht University Medical Center
Maastricht, Limburg, Netherlands
|
3 |
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...)
|
4 |
NCT02292654 |
Recruiting |
Safety, Tolerability, PK, and Efficacy Evaluation of Repeat Ascending Doses of Olipudase Alfa in Pediatric Patients <18 Years of Age With Acid Sphingomyelinase Deficiency |
|
|
Interventional |
Phase 1 Phase 2 |
- Genzyme, a Sanofi Company
- Sanofi
|
Industry |
- Intervention Model: Single Group Assignment
- Masking: None (Open Label)
- Primary Purpose: Treatment
|
- Number of adverse events
- Clinically significant changes in laboratory parameters (complete blood count (CBC), clinical chemistry, and urinalysis)
- Clinically significant changes in physical examinations (vital signs, electrocardiogram (ECG), doppler echocardiography, and liver ultrasound doppler)
- (and 8 more...)
|
20 |
All |
up to 17 Years (Child) |
NCT02292654 |
DFI13803 U1111-1160-6469 |
ASCEND-Peds |
May 1, 2015 |
June 2019 |
September 2019 |
November 17, 2014 |
April 12, 2018 |
|
- Investigational Site Number 840001
New York, New York, United States - Investigational Site Number 076001
Porto Alegre, Brazil - Investigational Site Number 250002
Bron, France - (and 3 more...)
|
5 |
NCT02004704 |
Enrolling by invitation |
A Long-Term Study of Olipudase Alfa in Patients With Acid Sphingomyelinase Deficiency |
|
|
Interventional |
Phase 2 |
- Genzyme, a Sanofi Company
- Sanofi
|
Industry |
- Intervention Model: Single Group Assignment
- Masking: None (Open Label)
- Primary Purpose: Treatment
|
- Adverse events and treatment emergent adverse events including infusion-associated reactions
- Physical examinations including neurologic examinations
- Clinical laboratory tests
- (and 14 more...)
|
17 |
All |
1 Year and older (Child, Adult, Senior) |
NCT02004704 |
LTS13632 2013-000051-40 U1111-1141-65868 |
|
December 4, 2013 |
September 1, 2023 |
September 1, 2023 |
December 9, 2013 |
April 4, 2018 |
|
- Investigational Site Number 840001
New York, New York, United States - Investigational Site Number 076001
Porto Alegre, Brazil - Investigational Site Number 250002
Bron Cedex, France - (and 3 more...)
|
6 |
NCT02004691 |
Recruiting |
Efficacy, Safety, Pharmacodynamic, and Pharmacokinetics Study of Olipudase Alfa in Patients With Acid Sphingomyelinase Deficiency |
|
- Drug: placebo (saline)
- Drug: GZ402665
|
Interventional |
Phase 2 Phase 3 |
- Genzyme, a Sanofi Company
- Sanofi
|
Industry |
- Allocation: Randomized
- Intervention Model: Parallel Assignment
- Masking: Quadruple (Participant, Care Provider, Investigator, Outcomes Assessor)
- Primary Purpose: Treatment
|
- Percentage change in spleen volume (combined with change in splenomegaly related score (SRS) in the US only, and referred to as "combination spleen endpoint")
- Percentage change in diffusing capacity of the lung for carbon monoxide
- Change in splenomegaly related score (SRS) except US, where it is part of the primary "combination spleen endpoint"
- (and 6 more...)
|
36 |
All |
18 Years and older (Adult, Senior) |
NCT02004691 |
DFI12712 2015‐000371‐26 U1111-1142-5963 |
ASCEND |
December 18, 2015 |
January 4, 2024 |
January 4, 2024 |
December 9, 2013 |
April 12, 2018 |
|
- Investigational Site Number 840005
San Francisco, California, United States - Investigational Site Number 840003
Decatur, Georgia, United States - Investigational Site Number 840004
Minneapolis, Minnesota, United States - (and 19 more...)
|
7 |
NCT00046202 |
Recruiting |
Study of Inborn Errors of Cholesterol Synthesis and Related Disorders |
|
|
Observational |
|
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
- National Institutes of Health Clinical Center (CC)
|
NIH |
|
|
1000 |
All |
Child, Adult, Senior |
NCT00046202 |
020311 02-CH-0311 |
|
September 19, 2002 |
|
|
September 23, 2002 |
March 29, 2018 |
|
- National Institutes of Health Clinical Center, 9000 Rockville Pike
Bethesda, Maryland, United States
|
8 |
NCT00045812 |
Completed |
SCH-58235 (Ezetimibe) to Treat Homozygous Sitosterolemia |
|
|
Interventional |
Phase 2 |
- National Heart, Lung, and Blood Institute (NHLBI)
- National Institutes of Health Clinical Center (CC)
|
NIH |
- Primary Purpose: Treatment
|
|
5 |
All |
Child, Adult, Senior |
NCT00045812 |
010115 01-H-0115 |
|
March 2001 |
|
April 2004 |
September 11, 2002 |
March 4, 2008 |
|
- National Heart, Lung and Blood Institute (NHLBI)
Bethesda, Maryland, United States
|
9 |
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
|
10 |
NCT00055016 |
Completed |
Registry of Fabry Disease - A Multicenter Observational Study |
|
|
Observational |
|
- National Institute of Neurological Disorders and Stroke (NINDS)
- National Institute of Neurological Disorders and Stroke@@@Shire Human Genetic Therapies (HGT)
- National Institutes of Health Clinical Center (CC)
|
NIH / Other |
|
|
100 |
All |
Child, Adult, Senior |
NCT00055016 |
030106 03-N-0106 |
|
February 13, 2003 |
|
March 3, 2008 |
February 17, 2003 |
July 2, 2017 |
|
- National Institutes of Health Clinical Center, 9000 Rockville Pike
Bethesda, Maryland, United States - Transkaryotic Therapies, Inc.
Cambridge, Massachusetts, United States
|
11 |
NCT00358943 |
Recruiting |
International Collaborative Gaucher Group (ICGG) Gaucher Registry |
- Gaucher Disease
- Cerebroside Lipidosis Syndrome
- Glucocerebrosidase Deficiency Disease
- Glucosylceramide Beta-Glucosidase Deficiency Disease
|
|
Observational |
|
- Genzyme, a Sanofi Company
- Sanofi
|
Industry |
- Observational Model: Cohort
- Time Perspective: Prospective
|
- To provide the Gaucher medical community with recommendations for monitoring patients and to provide reports on patient outcomes to help optimize patient care.
|
12000 |
All |
Child, Adult, Senior |
NCT00358943 |
ICGG Gaucher Registry DIREGC07009 |
|
April 1991 |
January 31, 2030 |
January 31, 2030 |
August 1, 2006 |
August 22, 2017 |
|
- Investigational Site Number 840042
Sacramento, California, United States - Investigational Site Number 840096
Tampa, Florida, United States - Investigational Site Number 840092
Boston, Massachusetts, United States - (and 60 more...)
|
12 |
NCT00358150 |
Completed Has Results |
A Study of the Efficacy and Safety of Eliglustat Tartrate (Genz-112638) in Type 1 Gaucher Patients |
- Gaucher Disease, Type 1
- Cerebroside Lipidosis Syndrome
- Glucocerebrosidase Deficiency Disease
- (and 2 more...)
|
- Drug: Eliglustat tartrate
|
Interventional |
Phase 2 |
- Genzyme, a Sanofi Company
- Sanofi
|
Industry |
- Intervention Model: Single Group Assignment
- Masking: None (Open Label)
- Primary Purpose: Treatment
|
- Percentage of Participants Demonstrating A Meaningful Clinical Response
- Percent Change From Baseline in Spleen Volume at Year 1, Year 2, Year 3, Year 4, Year 5, Year 6, Year 7, Year 8, Year 9 and at End of Study
- Percent Change From Baseline in Liver Volume at Year 1, Year 2, Year 3, Year 4, Year 5, Year 6, Year 7, Year 8, Year 9 and at End of Study
- (and 14 more...)
|
26 |
All |
18 Years to 65 Years (Adult) |
NCT00358150 |
GZGD00304 2005-004732-42 DRI12816 |
|
June 2006 |
August 2009 |
December 2015 |
July 31, 2006 |
February 15, 2017 |
September 3, 2014 |
- New York University
New York, New York, United States - New York, New York, United States
- Aprillus Asistencia e Investigación
Buenos Aires, Argentina - (and 14 more...)
|
13 |
NCT00364858 |
Completed Has Results |
Safety and Efficacy of Cerezyme® Infusions Every 4 Weeks Versus Every 2 Weeks in Type 1 Gaucher Disease |
- Gaucher Disease, Type 1
- Cerebroside Lipidosis Syndrome
- Glucocerebrosidase Deficiency Disease
- (and 2 more...)
|
|
Interventional |
Phase 4 |
- Genzyme, a Sanofi Company
- Sanofi
|
Industry |
- Allocation: Randomized
- Intervention Model: Parallel Assignment
- Masking: None (Open Label)
- Primary Purpose: Treatment
|
- Number of Participants With Clinical Success at Month 24/Discontinuation
- Mean Composite Scores of the SF-36 Health Survey at Baseline
- Mean Composite Scores of the SF-36 Health Survey at Month 24/Discontinuation.
- Mean Change From Baseline in Composite Scores of the SF-36 Health Survey at Month 24/Discontinuation
|
95 |
All |
18 Years and older (Adult, Senior) |
NCT00364858 |
CZ-011-01 |
|
December 2001 |
|
February 2007 |
August 16, 2006 |
April 3, 2015 |
September 2, 2009 |
- Children's National Medical Center
Washington, District of Columbia, United States - University Research Foundation for Lysosomal Storage Disease, Inc.
Coral Springs, Florida, United States - Emory University
Atlanta, Georgia, United States - (and 23 more...)
|
14 |
NCT00365131 |
Completed |
A Multicenter Study of the Efficacy of Cerezyme in Testing Skeletal Disease in Patients With Type I Gaucher Disease. |
- Gaucher Disease Type I
- Cerebroside Lipidosis Syndrome
- Clucocerebrosidase Deficiency Disease
- (and 2 more...)
|
- Drug: Cerezyme (imiglucerase for injection)
|
Interventional |
Phase 4 |
- Genzyme, a Sanofi Company
- Sanofi
|
Industry |
- Allocation: Non-Randomized
- Intervention Model: Single Group Assignment
- Masking: None (Open Label)
- Primary Purpose: Treatment
|
- Skeletal response over 4 years of Cerezyme therapy
- Assess use of skeletal parameter as indicative of treatment response and use in dose management
|
40 |
All |
10 Years to 65 Years (Child, Adult) |
NCT00365131 |
RC96-1101 |
|
December 1997 |
|
July 2004 |
August 17, 2006 |
March 5, 2015 |
|
- Coral Springs, Florida, United States
|
15 |
NCT02068807 |
Completed |
Evaluation of Antioxidant Activity of Oral Lutein in Preterm and Term Newborn |
- Infant, Newborn, Diseases
- Other Lipid Storage Disorders
|
- Dietary Supplement: Lutein drops
- Dietary Supplement: Glucose drops
|
Interventional |
Phase 1 Phase 2 |
- University of Siena
- Careggi Hospital
|
Other |
- Allocation: Randomized
- Intervention Model: Parallel Assignment
- Masking: Double (Participant, Investigator)
- Primary Purpose: Prevention
|
- Antioxidant status in the newborns
|
100 |
All |
up to 5 Minutes (Child) |
NCT02068807 |
NEO-LUT-2011 |
|
January 2011 |
January 2013 |
October 2013 |
February 21, 2014 |
February 25, 2014 |
|
|
16 |
NCT02993796 |
Recruiting |
Krabbe Disease Global Patient Registry |
|
|
Observational |
|
- State University of New York at Buffalo
- Rare Diseases Clinical Research Network
- National Center for Advancing Translational Science (NCATS)
- (and 5 more...)
|
Other / NIH |
- Observational Model: Cohort
- Time Perspective: Prospective
|
|
60 |
All |
Child, Adult, Senior |
NCT02993796 |
RDCRN6726 U54NS065768 R-21 HD087818-01 |
|
September 2014 |
July 2019 |
August 2019 |
December 15, 2016 |
August 29, 2017 |
|
- State University of New York at Buffalo
Buffalo, New York, United States
|
17 |
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
|
18 |
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...)
|
19 |
NCT01306604 |
Recruiting |
Biomarker for Niemann Pick Type C Disease |
- Niemann-Pick Disease
- Niemann-Pick Disease, Type C
|
|
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 Niemann Pick Type C disease from plasma and saliva
- Testing for clinical robustness, specificity and long-term stability of the biomarker
|
80 |
All |
Child, Adult, Senior |
NCT01306604 |
BN04/2011 |
BioNPC |
March 2011 |
September 2018 |
October 2018 |
March 2, 2011 |
May 4, 2017 |
|
- Pediatric practice
Oran, Algeria - Juan Fernandez Hospital, Department of Neurology
Buenos Aires, Argentina - Health Technology Assessment in Clinical Genetics Research Group
Porto Alegre -RS, Brazil - (and 12 more...)
|
20 |
NCT01425489 |
Recruiting |
Biomarker for Krabbe Disease |
- Lysosomal Storage Diseases
- Krabbe 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 Krabbe disease from plasma and saliva
- Testing for clinical robustness, specificity and long-term stability of the biomarker
|
250 |
All |
1 Year and older (Child, Adult, Senior) |
NCT01425489 |
BK07/2011 |
BioKrabbe |
August 2011 |
October 2018 |
November 2018 |
August 30, 2011 |
February 6, 2018 |
|
- Clinics Hospital of Ribeiro Preto - University of Sao Paulo
Sao Paulo, Brazil - University of Rostock, Albrecht Kossel Institute
Rostock, Germany - NIRMA, University of Mumbai
Mumbai, India
|
21 |
NCT01331642 |
Recruiting |
Biomarker for Gaucher Disease |
- Lysosomal Storage Diseases
- Gaucher Disease
- Sphingolipidoses
|
|
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 Gaucher Disease from plasma
- Testing for clinical robustness, specificity and long-term stability of the biomarker
|
200 |
All |
Child, Adult, Senior |
NCT01331642 |
BG05/2011 |
BioGaucher |
April 2011 |
October 2018 |
November 2018 |
April 8, 2011 |
May 4, 2017 |
|
- Pediatric practice
Oran, Algeria - Health Technology Assessment in Clinical Genetics Research Group
Porto Alegre -RS, Brazil - Clinics Hospital of Ribeirao Preto- University of Sao Paulo
Sao Paulo, Brazil - (and 4 more...)
|
22 |
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...)
|
23 |
NCT03233841 |
Recruiting |
Farber Disease Natural History Study |
- Farber Disease
- Farber's Disease
- Farber Lipogranulomatosis
- (and 4 more...)
|
|
Observational |
|
|
Industry |
- Observational Model: Cohort
- Time Perspective: Other
|
- Establish a dataset on the natural history of Farber Disease
|
40 |
All |
Child, Adult, Senior |
NCT03233841 |
RVT-801-0001 |
|
November 22, 2017 |
November 2019 |
November 2019 |
July 31, 2017 |
January 4, 2018 |
|
- UCSF Benioff Children's Hospital Oakland
Oakland, California, United States - Children's National Health System
Washington, District of Columbia, United States - Hospital de Niños de la Santisima Trinidad
Córdoba, CP, Argentina - (and 3 more...)
|
24 |
NCT01938014 |
Unknown † |
Lysosomal Storage Disease: Health, Development, and Functional Outcome Surveillance in Preschool Children |
- Mucopolysaccharidosis Type I (MPS I)
- Mucopolysaccharidosis Type II (MPS II)
- Mucopolysaccharidosis Type III (MPS III)
- (and 2 more...)
|
|
Observational |
|
- University of Chicago
- Rare Diseases Clinical Research Network
- National Center for Advancing Translational Science (NCATS)
- (and 4 more...)
|
Other / NIH |
- Observational Model: Cohort
- Time Perspective: Prospective
|
- Change in Health Status of the Lysosomal Disease-Affected Child Measured at 6-month Intervals for 5.5 Years
- Change in the Behavioral Outcomes of the Immediate Family of the Lysosomal Disease-Affected Child Measured at 6-month Intervals for 5.5 Years
- Change in Developmental Status of the Lysosomal Disease-Affected Child Measured at 6-month Intervals for 5.5 Years
- (and 4 more...)
|
150 |
All |
up to 18 Years (Child, Adult) |
NCT01938014 |
RDCRN-LDN-6710 U54NS065768 |
|
January 2009 |
August 2017 |
August 2017 |
September 10, 2013 |
August 11, 2015 |
|
- University of Chicago
Chicago, Illinois, United States - University of Minnesota
Minneapolis, Minnesota, United States - Hunter James Kelly Institute
Buffalo, New York, United States
|
25 |
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
|
26 |
NCT00357786 |
Completed |
An Open-Label Maintenance Study of the Enzyme Replacement Therapy Replagal in Patients With Fabry Disease |
|
- Drug: Replagal agalsidase alfa
- Drug: Replagal
|
Interventional |
Phase 1 |
- National Institute of Neurological Disorders and Stroke (NINDS)
- National Institutes of Health Clinical Center (CC)
|
NIH |
- Intervention Model: Single Group Assignment
- Masking: None (Open Label)
- Primary Purpose: Treatment
|
|
3 |
Male |
39 Years to 45 Years (Adult) |
NCT00357786 |
040027 04-N-0027 |
|
October 2003 |
December 2008 |
|
July 27, 2006 |
August 17, 2011 |
|
- National Institutes of Health Clinical Center, 9000 Rockville Pike
Bethesda, Maryland, United States
|
27 |
NCT00071877 |
Completed |
An Open-Label Clinical Trial of Replagal Enzyme Therapy in Children Ages 7-17 Years With Fabry Disease |
|
|
Interventional |
Phase 2 |
- National Institute of Neurological Disorders and Stroke (NINDS)
- National Institutes of Health Clinical Center (CC)
|
NIH |
- Primary Purpose: Treatment
|
|
25 |
All |
Child, Adult, Senior |
NCT00071877 |
040029 04-N-0029 |
|
October 2003 |
|
June 2005 |
November 4, 2003 |
March 4, 2008 |
|
- National Institute of Neurological Disorders and Stroke (NINDS)
Bethesda, Maryland, United States
|
28 |
NCT03123523 |
Recruiting |
Study of the Relation Between Lipid Myocardial Overload Evaluated by Cardiac Magnetic Resonance Imaging (MRI), Alteration of Longitudinal Myocardial Deformations by Echocardiography, and Clinical Achievements (Functional, Biological and Electrical) in Fabry Disease, and Its Outcomes. |
|
- Diagnostic Test: Echocardiography at T0
- Diagnostic Test: Exercise test
- Biological: Biological assays
- (and 3 more...)
|
Observational |
|
- University Hospital, Bordeaux
|
Other |
- Observational Model: Case-Control
- Time Perspective: Prospective
|
- Cardiovascular symptoms
- Metabolic exercise test marker : poor blood pressure adaptation to exercise
- Metabolic exercise test marker: max level achieved
- (and 6 more...)
|
55 |
All |
18 Years and older (Adult, Senior) |
NCT03123523 |
CHUBX 2016/08 |
FABRY-Image |
October 18, 2016 |
April 18, 2020 |
April 18, 2020 |
April 21, 2017 |
April 21, 2017 |
|
- CHU de Bordeaux
Pessac, France
|
29 |
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
|
30 |
NCT02069106 |
Withdrawn |
Efficacy Study of Daily Pro-Omega LDL for Low-Density Lipoprotein Cholesterol and Triglyceride Reduction |
- Mixed Hyperlipoproteinemia
|
- Dietary Supplement: Pro-Omega LDL
- Other: Placebo
|
Interventional |
Phase 4 |
- Nordic Pharma, USA
- Nutrasource Diagnostics Inc.
|
Industry / Other |
- Allocation: Randomized
- Intervention Model: Parallel Assignment
- Masking: Quadruple (Participant, Care Provider, Investigator, Outcomes Assessor)
- Primary Purpose: Treatment
|
- Low-density lipoprotein cholesterol (LDL-C)
- Triglycerides (TG)
- Total cholesterol
- (and 6 more...)
|
0 |
All |
18 Years and older (Adult, Senior) |
NCT02069106 |
1001-PR-003-09092013 |
PrOteCT |
February 2014 |
May 2014 |
July 2014 |
February 21, 2014 |
December 14, 2015 |
|
|
31 |
NCT01974297 |
Unknown † |
Comparison of the Efficacy and Safety of AtorVastatin mOnotherapy vs. Combination Atorvastatin/Fenofibric Acid |
|
- Drug: Atorvastatin 10mg, fenofibric acid 135mg
- Drug: atorvastatin 20mg
|
Interventional |
Not Applicable |
- Sang Hak Lee
- Yonsei University
|
Other |
- Allocation: Randomized
- Intervention Model: Parallel Assignment
- Masking: None (Open Label)
- Primary Purpose: Treatment
|
- Changes of non-HDL cholesterol
- levelresponse rate of non-HDL cholesterol level < 130mg/dL
- changes of TC,HDL-C,LDL-C,TG,Apo B/A1
- (and 2 more...)
|
194 |
All |
20 Years and older (Adult, Senior) |
NCT01974297 |
AVOCADO |
AVOCADO |
July 2013 |
June 2014 |
July 2014 |
November 1, 2013 |
November 4, 2013 |
|
- Severance Hospital, Yonsei University College of Medicine
Seoul, Korea, Republic of
|
32 |
NCT00289900 |
Completed Has Results |
Lipid Efficacy and Safety in Participants With Mixed Hyperlipidemia (MK-0524B-024) |
|
- Drug: MK-0524A
- Drug: Atorvastatin
- Drug: Simvastatin
|
Interventional |
Phase 3 |
- Merck Sharp & Dohme Corp.
|
Industry |
- Allocation: Randomized
- Intervention Model: Parallel Assignment
- Masking: Double (Participant, Investigator)
- Primary Purpose: Treatment
|
- Percentage Change From Baseline in the LDL-C/HDL-C Ratio
- Percentage Change From Baseline in HDL-C
- Percentage Change From Baseline in Triglycerides (TG)
- (and 22 more...)
|
2340 |
All |
18 Years to 80 Years (Adult, Senior) |
NCT00289900 |
0524B-024 MK-0524B-024 2005_103 |
|
January 2006 |
August 2010 |
August 2010 |
February 10, 2006 |
March 31, 2017 |
January 26, 2016 |
|
33 |
NCT00134238 |
Terminated |
Carotid B-mode Ultrasound Study to Compare Anti-Atherosclerotic Effect of Torcetrapib/Atorvastatin to Atorvastatin. |
|
- Drug: torcetrapib/atorvastatin
- Drug: atorvastatin
|
Interventional |
Phase 3 |
|
Industry |
- Allocation: Randomized
- Intervention Model: Parallel Assignment
- Masking: Double
- Primary Purpose: Treatment
|
- Change in intima media thickness as measured by carotid ultrasound
- Changes in levels of lipids and other biomarkers.
|
755 |
All |
18 Years to 70 Years (Adult, Senior) |
NCT00134238 |
A5091004 |
RADIANCE 2 |
November 2003 |
December 2006 |
December 2006 |
August 24, 2005 |
February 17, 2012 |
|
- Pfizer Investigational Site
Gilbert, Arizona, United States - Pfizer Investigational Site
Phoenix, Arizona, United States - Pfizer Investigational Site
Scottsdale, Arizona, United States - (and 48 more...)
|
34 |
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
|
35 |
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
|
36 |
NCT02008084 |
Completed |
A Pilot Study to Evaluate the Lipid Effects of TRIA-662 |
- Hypertriglyceridemia
- Mixed Hyperlipidemia
|
- Drug: TRIA-662
- Drug: Placebo
|
Interventional |
Phase 2 |
- Cortria Corporation
- Montreal Heart Institute
|
Industry / Other |
- Allocation: Randomized
- Intervention Model: Parallel Assignment
- Masking: Triple (Participant, Care Provider, Investigator)
- Primary Purpose: Treatment
|
- Recruitment Rate
- Compliance to investigational product
- Completion rate
- (and 14 more...)
|
71 |
All |
18 Years to 80 Years (Adult, Senior) |
NCT02008084 |
PNAI-MNA-03 |
|
December 2013 |
October 2015 |
October 2015 |
December 11, 2013 |
January 27, 2016 |
|
- Crowfoot Village Family Practice
Calgary, Alberta, Canada - Dr. Senaratne Professional Corporation
Edmonton, Alberta, Canada - The Bailey Clinic
Red Deer, Alberta, Canada - (and 14 more...)
|
37 |
NCT00941603 |
Completed Has Results |
Phase 2 Dose-Ranging Efficacy and Safety Trial of SCH 900271 in Participants With Primary Hypercholesterolemia or Mixed Hyperlipidemia (P05675) |
- Primary Hypercholesterolemia
- Mixed Hyperlipidemia
|
- Drug: SCH 900271 15mg
- Drug: SCH 900271
- Drug: Placebo
|
Interventional |
Phase 2 |
- Merck Sharp & Dohme Corp.
|
Industry |
- Allocation: Randomized
- Intervention Model: Parallel Assignment
- Masking: Double (Participant, Investigator)
- Primary Purpose: Treatment
|
- Change From Baseline in Direct LDL-C at Week 8
- Change From Baseline in Direct Non-HDL-C at Week 8
|
619 |
All |
18 Years to 75 Years (Adult, Senior) |
NCT00941603 |
P05675 MK-8271-004 |
|
June 29, 2009 |
February 22, 2010 |
February 22, 2010 |
July 17, 2009 |
June 12, 2017 |
April 12, 2016 |
|
38 |
NCT00001410 |
Completed |
PEG-Glucocerebrosidase for the Treatment of Gaucher Disease |
|
|
Interventional |
Phase 1 |
- National Institute of Mental Health (NIMH)
- National Institutes of Health Clinical Center (CC)
|
NIH |
- Primary Purpose: Treatment
|
|
18 |
All |
Child, Adult, Senior |
NCT00001410 |
940014 94-M-0014 |
|
October 1993 |
|
December 2001 |
November 4, 1999 |
March 4, 2008 |
|
- National Institute of Mental Health (NIMH)
Bethesda, Maryland, United States
|
39 |
NCT00269217 |
Completed |
Lipid Efficacy Study (0524B-022)(COMPLETED) |
- Primary Hypercholesterolemia
- Mixed Hyperlipidemia
|
- Drug: niacin (+) laropiprant (+) simvastatin
- Drug: Comparator: niacin (+) laropiprant
- Drug: Comparator: simvastatin
|
Interventional |
Phase 3 |
- Merck Sharp & Dohme Corp.
|
Industry |
- Allocation: Randomized
- Intervention Model: Parallel Assignment
- Masking: Double (Participant, Investigator)
- Primary Purpose: Treatment
|
- Coadministered MK0524B will be more efficacious in reducing LDL-C concentrations compared to MK0524A.
- Coadministered MK0524B will have a greater effect on HDL-C, TG, LDL-C, LDL-C:HDL-C, non-HDL-C, Apo B, and Apo A-I than simvastatin.
- Coadministered MK0524B will have a greater effect on HDL-C, TG, LDL-C:HDL-C, non-HDL-C, Apo B, and Apo A-I than MK0524A.
|
1400 |
All |
18 Years to 85 Years (Adult, Senior) |
NCT00269217 |
0524B-022 MK0524B-022 2005_098 |
|
January 2006 |
January 2007 |
January 2007 |
December 23, 2005 |
April 7, 2017 |
|
|
40 |
NCT00269204 |
Completed |
Lipid Efficacy/Tolerability Study (0524A-020) |
- Primary Hypercholesterolaemia
- Mixed Hyperlipidaemia
|
- Drug: niacin (+) laropiprant
- Drug: ER-niacin
|
Interventional |
Phase 3 |
- Merck Sharp & Dohme Corp.
|
Industry |
- Allocation: Randomized
- Intervention Model: Parallel Assignment
- Masking: Double (Participant, Investigator)
- Primary Purpose: Treatment
|
- Reductions of LDL-C concentrations at 24 weeks and better tolerability
- Elevations in HDL-C concentrations at 24 weeks
|
1620 |
All |
18 Years to 85 Years (Adult, Senior) |
NCT00269204 |
0524A-020 MK0524A-020 2005_095 |
|
December 2005 |
December 2006 |
December 2006 |
December 23, 2005 |
July 27, 2015 |
|
|
41 |
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...)
|
42 |
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...)
|
43 |
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
|
44 |
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 |
|
|
45 |
NCT02649660 |
Recruiting |
Lipidomics and Functional Analyses of Platelets in Fabry Disease |
|
|
Observational |
|
- Spital Linth
- University of Zurich
- National University, Singapore
|
Other |
- Observational Model: Cohort
- Time Perspective: Cross-Sectional
|
- Differences in sphingolipid profiles of platelets and plasma between Fabry disease patients and healthy subjects
- Differences in platelet function assessed by aggregometry
- Differences in expression of the platelet activation marker P-selectin (CD62P) between Fabry disease patients and healthy subjects at baseline and after agonist stimulation
- (and 6 more...)
|
32 |
All |
18 Years to 65 Years (Adult) |
NCT02649660 |
FabryPlatelets |
|
October 2015 |
December 31, 2017 |
December 31, 2017 |
January 7, 2016 |
May 8, 2017 |
|
- Spital Linth
Uznach, SG, Switzerland - University Hospital, Zürich
Zürich, ZH, Switzerland
|
46 |
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...)
|
47 |
NCT00093899 |
Completed |
A Study to Evaluate an Investigational Drug in Patients With Mixed Hyperlipidemia (0653A-071)(COMPLETED) |
- Hyperlipidemia
- Hypercholesterolemia
- Hypertriglyceridemia
|
- Drug: ezetimibe (+) simvastatin
|
Interventional |
Phase 3 |
- Merck Sharp & Dohme Corp.
|
Industry |
- Allocation: Randomized
- Intervention Model: Parallel Assignment
- Masking: Double (Participant, Investigator)
- Primary Purpose: Treatment
|
- Plasma LDL-C.
- Plasma HDL-C, non-HDL-C, and TG. Tolerability
|
611 |
All |
18 Years to 79 Years (Adult, Senior) |
NCT00093899 |
0653A-071 2004_044 |
|
November 2004 |
September 2005 |
September 2005 |
October 8, 2004 |
March 14, 2017 |
|
|
48 |
NCT00092573 |
Completed |
Study of Ezetimibe and Fenofibrate in Patients With Mixed Hyperlipidemia (0653-036)(COMPLETED) |
- Hypercholesterolemia
- Hypertriglyceridemia
|
- Drug: MK0653, ezetimibe
- Drug: Comparator: fenofibrate monotherapy
|
Interventional |
Phase 3 |
- Merck Sharp & Dohme Corp.
|
Industry |
- Primary Purpose: Treatment
|
- Tolerability
- Plasma LDL-C, HDL-C and triglycerides after 12 weeks.
|
576 |
All |
18 Years to 75 Years (Adult, Senior) |
NCT00092573 |
0653-036 Extension 2004_036 |
|
April 2003 |
November 2004 |
November 2004 |
September 28, 2004 |
February 28, 2017 |
|
|
49 |
NCT00092560 |
Completed |
Two Investigational Drugs in Patients With Mixed Hyperlipidemia (0653-036) |
- Hypercholesterolemia
- Hypertriglyceridemia
|
- Drug: MK0653, ezetimibe
- Drug: Comparator: fenofibrate monotherapy
|
Interventional |
Phase 3 |
- Merck Sharp & Dohme Corp.
|
Industry |
- Primary Purpose: Treatment
|
- Plasma LDL-C vs. fenofibrate for 12 weeks.
- All plasma lipid parameters vs. ezetimibe; all non-LDL lipid parameters vs. fenofibrate; safety and tolerability.
|
587 |
All |
18 Years to 75 Years (Adult, Senior) |
NCT00092560 |
0653-036 2004_035 |
|
December 2002 |
December 2003 |
December 2003 |
September 28, 2004 |
February 28, 2017 |
|
|
50 |
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
|