| 1 |
NCT02124083 |
Completed
Has Results |
Phase 1/2 Study of Vorinostat Therapy in Niemann-Pick Disease, Type C1 |
|
|
Interventional |
Phase 1
Phase 2 |
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
- Washington University School of Medicine
- Weill Medical College of Cornell University
- National Institutes of Health Clinical Center (CC)
|
NIH / Other |
- Intervention Model: Single Group Assignment
- Masking: None (Open Label)
- Primary Purpose: Treatment
|
- Number of Participants With Tolerabilty of 200 mg Vorinostat in Niemann-Pick Disease, Type C1
- Number of Participants With Tolerabilty of 400 mg Vorinostat in Niemann-Pick Disease, Type C1
- Biochemical Efficacy as Measured by Serum Cathepsin D
- Biochemical Efficacy as Measured by Serum LGALS3
|
12 |
All |
18 Years to 60 Years (Adult) |
NCT02124083 |
140102
14-CH-0102 |
|
April 25, 2014 |
December 13, 2016 |
December 13, 2016 |
April 28, 2014 |
February 22, 2018 |
February 22, 2018 |
- National Institutes of Health Clinical Center, 9000 Rockville Pike
Bethesda, Maryland, United States
|
| 2 |
NCT01899950 |
Completed |
Longitudinal Study of Cognition With Niemann-Pick Disease, Type C |
- Niemann-Pick Disease, Type C
|
|
Observational |
|
- Mayo Clinic
- Rare Diseases Clinical Research Network
- National Center for Advancing Translational Science (NCATS)
- (and 2 more...)
|
Other / NIH |
- Observational Model: Case-Only
- Time Perspective: Prospective
|
- Composite score of neurocognitive measures
|
70 |
All |
2 Years to 99 Years (Child, Adult, Senior) |
NCT01899950 |
11-003868
U54NS065768
LDN6715 |
NPC |
March 2011 |
September 2014 |
September 2014 |
July 16, 2013 |
January 6, 2016 |
|
- Mayo Clinic
Rochester, Minnesota, United States
|
| 3 |
NCT03471143 |
Recruiting |
Study of IV VTS-270 for Infantile Liver Disease Associated With Niemann-Pick Disease, Type C |
- Niemann-Pick Disease, Type C
|
- Drug: 2-Hydroxypropyl-Beta-Cyclodextrin
|
Interventional |
Phase 1
Phase 2 |
- Washington University School of Medicine
- Johns Hopkins University
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
|
Other / NIH |
- Intervention Model: Single Group Assignment
- Masking: None (Open Label)
- Primary Purpose: Treatment
|
- Efficacy of VTS-270 to reduce plasma levels of glycine-conjugated trihydroxycholanic acid ("bile acid biomarker"), an NPC-specific pharmacodynamic biomarker.
- Effect of drug on serum transaminases
- Reduction of liver and/or spleen volumes
|
12 |
All |
up to 6 Months (Child) |
NCT03471143 |
201708114
1U01HD090845-01 |
|
March 2018 |
February 2022 |
February 2022 |
March 20, 2018 |
March 27, 2018 |
|
- St. Louis Children's Hospital
Saint Louis, Missouri, United States
|
| 4 |
NCT02612129 |
Active, not recruiting |
Arimoclomol Prospective Study in Patients Diagnosed With NiemannPick Disease Type C |
- Niemann-Pick Disease, Type C
|
- Drug: arimoclomol
- Drug: Placebo
|
Interventional |
Phase 2
Phase 3 |
|
Industry |
- Allocation: Randomized
- Intervention Model: Parallel Assignment
- Masking: Quadruple (Participant, Care Provider, Investigator, Outcomes Assessor)
- Primary Purpose: Treatment
|
- Change in NPC disease severity score
- Change in the Niemann Pick type C Clinical Database (NPC-cdb) score
- Change in NPCCSS score
- (and 6 more...)
|
50 |
All |
2 Years to 18 Years (Child, Adult) |
NCT02612129 |
CT-ORZY-NPC-002 |
|
June 2016 |
June 2018 |
June 2020 |
November 23, 2015 |
July 11, 2017 |
|
- UCSF Benioff Children's Hospital Oakland
Oakland, California, United States - Mayo Clinic Children's Center
Rochester, Minnesota, United States - University Hospital Copenhagen (Rigshospitalet)
Copenhagen, Denmark - (and 11 more...)
|
| 5 |
NCT00975689 |
Completed
Has Results |
Biomarker Validation for Niemann-Pick Disease, Type C: Safety and Efficacy of N-Acetyl Cysteine |
- Niemann-Pick Disease, Type C
|
|
Interventional |
Phase 1
Phase 2 |
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
- University of Oxford
- Washington University School of Medicine
- (and 2 more...)
|
NIH / Other |
- Allocation: Randomized
- Intervention Model: Crossover Assignment
- Masking: Triple (Participant, Care Provider, Investigator)
- Primary Purpose: Treatment
|
|
35 |
All |
12 Months and older (Child, Adult, Senior) |
NCT00975689 |
090185
09-CH-0185 |
|
August 2009 |
November 2010 |
November 2010 |
September 11, 2009 |
May 6, 2013 |
July 12, 2012 |
- National Institutes of Health Clinical Center, 9000 Rockville Pike
Bethesda, Maryland, United States
|
| 6 |
NCT02939547 |
Recruiting |
Study of the Pharmacokinetics of Trappsol and Effects on Potential Biomarkers of Niemann-Pick C1 (NPC1) |
- Niemann-Pick Disease, Type C1
|
- Drug: Hydroxypropyl-beta-cyclodextrin
|
Interventional |
Phase 1 |
|
Industry |
- Allocation: Randomized
- Intervention Model: Parallel Assignment
- Masking: Quadruple (Participant, Care Provider, Investigator, Outcomes Assessor)
- Primary Purpose: Basic Science
|
- Maximum Concentration ( C max) of Trappsol in plasma from patients with Niemann-Pick disease Type C1 by measurement of plasma levels
- Time to Maximum Concentration (T max) of Trappsol in plasma from patients with Niemann-Pick disease Type C1 by measurement of plasma levels
- Volume of Distribution of Trappsol in plasma from patients with Niemann-Pick disease Type C1 by measurement of plasma levels
- (and 9 more...)
|
12 |
All |
18 Years and older (Adult, Senior) |
NCT02939547 |
CTD-TCNPC-101 |
|
October 11, 2017 |
February 2019 |
February 2019 |
October 20, 2016 |
March 23, 2018 |
|
- UCSF Benioff Children's Hospital Oakland
Oakland, California, United States
|
| 7 |
NCT02841358 |
Terminated |
Screening of Niemann-Pick Disease, Type C in a Psychiatric Population |
- Psychiatric Adults Patients
|
- Biological: Blood sampling
- Biological: Biopsy
|
Interventional |
Not Applicable |
- University Hospital, Grenoble
|
Other |
- Intervention Model: Single Group Assignment
- Masking: None (Open Label)
|
|
22 |
All |
18 Years and older (Adult, Senior) |
NCT02841358 |
38RC13.200 |
NPCPsy |
December 2013 |
June 2016 |
December 2016 |
July 22, 2016 |
January 13, 2017 |
|
- UniversityHospitalGrenoble
La Tronche, France
|
| 8 |
NCT02435030 |
Completed |
A Prospective Non-therapeutic Study in Patients Diagnosed With Niemann-Pick Disease Type C |
- Niemann-Pick Disease, Type C
|
|
Observational |
|
|
Industry |
- Observational Model: Case-Only
- Time Perspective: Prospective
|
- NP-C clinical disease severity
- Quality of life questionnaire (EQ-5D-Y)
- Ultrasonographic evaluation of liver and spleen
- (and 4 more...)
|
35 |
All |
2 Years to 18 Years (Child, Adult) |
NCT02435030 |
CT-ORZY-NPC-001
2014-005194-37 |
|
September 2015 |
May 2017 |
May 2017 |
May 6, 2015 |
May 18, 2017 |
|
- University Hospital Copenhagen (Rigshospitalet)
Copenhagen, Denmark - CHU de Montpellier
Montpellier, France - Hôpital Trousseau
Paris, France - (and 13 more...)
|
| 9 |
NCT01722526 |
Completed |
Tolerability and Safety Study of Recombinant Human Acid Sphingomyelinase in Acid Sphingomyelinase Deficiency Patients |
- Human Acid Sphingomyelinase Deficiency
|
- Drug: Recombinant human acid sphingomyelinase
|
Interventional |
Phase 1 |
- Genzyme, a Sanofi Company
- Sanofi
|
Industry |
- Intervention Model: Single Group Assignment
- Masking: None (Open Label)
- Primary Purpose: Treatment
|
- Summary of Adverse Events (AEs)
- Pharmacokinetics as measured by peak plasma concentration (Cmax), time to peak concentration (tmax), area under curve (AUC), half life (t1/2), drug clearance (CL), and volume of distribution (Vss)
- Pharmacodynamics as measured by liver and skin biopsies, plasma, and dried blood spot
|
5 |
All |
18 Years to 65 Years (Adult) |
NCT01722526 |
DFI13412
2012-003542-32
SPHINGO00812 |
|
March 2013 |
January 2014 |
January 2014 |
November 7, 2012 |
July 30, 2015 |
|
- Mount Sinai School of Medicine
New York, New York, United States - St. Mary's Hospital
Manchester, United Kingdom
|
| 10 |
NCT00344331 |
Recruiting |
Evaluation of Biochemical Markers and Clinical Investigation of Niemann-Pick Disease, Type C |
- Neimann-Pick Disease, Type C
|
|
Observational |
|
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
- National Institutes of Health Clinical Center (CC)
|
NIH |
- Observational Model: Cohort
- Time Perspective: Other
|
|
300 |
All |
Child, Adult, Senior |
NCT00344331 |
060186
06-CH-0186 |
|
June 19, 2006 |
|
|
June 26, 2006 |
April 4, 2018 |
|
- Kennedy Krieger Institute
Baltimore, Maryland, United States - National Institutes of Health Clinical Center, 9000 Rockville Pike
Bethesda, Maryland, United States - Washington University, St. Louis
Saint Louis, Missouri, United States
|
| 11 |
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...)
|
| 12 |
NCT00410566 |
Terminated |
Safety Study of rhASM Enzyme Replacement Therapy in Adults With Acid Sphingomyelinase Deficiency (Niemann-Pick Disease) |
- Acid Sphingomyelinase Deficiency
- Niemann-Pick Disease
|
|
Interventional |
Phase 1 |
- Genzyme, a Sanofi Company
- Sanofi
|
Industry |
- Allocation: Non-Randomized
- Intervention Model: Parallel Assignment
- Masking: None (Open Label)
- Primary Purpose: Treatment
|
- Safety assessments via physical exam,AE reporting,telemetry heartrate monitoring,ECG,ECHO,clinical lab evaluations,liver and adrenal function tests,cytokine testing,adrenal hormone levels,lipid profile,chest Xrays,liver biopsies,MRI of internal
- Immune Response Measure
- PK measurements
|
11 |
All |
18 Years to 65 Years (Adult) |
NCT00410566 |
SPHINGO00605 |
|
December 2006 |
March 2009 |
April 2009 |
December 13, 2006 |
March 19, 2015 |
|
- New York, New York, United States
|
| 13 |
NCT00517153 |
Completed |
Miglustat in Niemann-Pick Type C Disease |
- Niemann-Pick Type C Disease
|
|
Interventional |
Phase 2 |
|
Industry |
- Allocation: Randomized
- Intervention Model: Parallel Assignment
- Masking: Quadruple (Participant, Care Provider, Investigator, Outcomes Assessor)
- Primary Purpose: Treatment
|
- The primary endpoints will be two parameters - Horizontal Saccadic α and Horizontal Saccadic β - which are estimated for each patient from their saccadic eye movement data
- Highest amplitude for which a velocity measurement is obtained
|
29 |
All |
4 Years and older (Child, Adult, Senior) |
NCT00517153 |
OGT-918-007 |
|
January 2002 |
September 2006 |
January 2008 |
August 16, 2007 |
March 26, 2010 |
|
- Columbia University Medical Center
New York, New York, United States
|
| 14 |
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...)
|
| 15 |
NCT02912793 |
Recruiting |
Study of Pharmacokinetics and Preliminary Efficacy in Patients With Niemann-Pick C1 |
- Niemann-Pick Disease, Type C1
|
- Drug: Hydroxypropyl-beta-cyclodextrin
|
Interventional |
Phase 1
Phase 2 |
|
Industry |
- Allocation: Randomized
- Intervention Model: Parallel Assignment
- Masking: Quadruple (Participant, Care Provider, Investigator, Outcomes Assessor)
- Primary Purpose: Treatment
|
- To evaluate the plasma the Maximum Concentration (C max) of 3 doses of Trappsol by measurement of plasma levels
- To evaluate the Time to Maximum Concentration ( Tmax) of 3 doses of Trappsol by measurement of plasma levels
- To evaluate the Volume of Distribution of Trappsol by measurement of plasma levels
- (and 9 more...)
|
12 |
All |
2 Years and older (Child, Adult, Senior) |
NCT02912793 |
CTD-TCNP-201 |
|
March 20, 2017 |
August 2019 |
August 2019 |
September 23, 2016 |
April 17, 2018 |
|
- Soroka Mc
Beer sheva, Rager Blvd, Israel - HaeMek MC
'Afula, Israel - Karolinska Trial Alliance
Solna, Huddinge, Sweden - (and 2 more...)
|
| 16 |
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...)
|
| 17 |
NCT03201627 |
Recruiting |
Study of Lithium Carbonate to Treat Niemann-Pick Type C1 Disease |
- Niemann-Pick Disease, Type C1
|
|
Interventional |
Phase 1
Phase 2 |
- Xinhua Hospital, Shanghai Jiao Tong University School of Medicine
|
Other |
- Allocation: Non-Randomized
- Intervention Model: Single Group Assignment
- Masking: None (Open Label)
- Primary Purpose: Treatment
|
- NPC clinical severity score
|
7 |
All |
7 Years to 40 Years (Child, Adult) |
NCT03201627 |
XH-17-010 |
|
July 1, 2017 |
August 30, 2018 |
December 30, 2018 |
June 28, 2017 |
June 28, 2017 |
|
- Xin Hua Hospital
Shanghai, Shanghai, China
|
| 18 |
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...)
|
| 19 |
NCT00316498 |
Completed |
Saccadic Eye Movements in Patients With Niemann-Pick Type C Disease |
|
|
Interventional |
Phase 1 |
- National Eye Institute (NEI)
- National Institutes of Health Clinical Center (CC)
|
NIH |
- Primary Purpose: Treatment
|
|
30 |
All |
12 Years and older (Child, Adult, Senior) |
NCT00316498 |
030011
03-EI-0011 |
|
October 17, 2002 |
|
August 15, 2007 |
April 20, 2006 |
July 2, 2017 |
|
- National Institutes of Health Clinical Center, 9000 Rockville Pike
Bethesda, Maryland, United States - Columbia University
New York, New York, United States - Oxford GlycoSciences Ltd.
Abingdon, United Kingdom
|
| 20 |
NCT01747135 |
Completed |
Hydroxypropyl Beta Cyclodextrin for Niemann-Pick Type C1 Disease |
- Niemann-Pick Disease, Type C1
|
|
Interventional |
Phase 1 |
- Vtesse Inc.
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
|
Industry / NIH |
- Intervention Model: Single Group Assignment
- Masking: None (Open Label)
- Primary Purpose: Treatment
|
- 24-hydroxycholesterol Area under the curve
- Hearing loss.
|
14 |
All |
2 Years to 25 Years (Child, Adult) |
NCT01747135 |
130001
13-CH-0001 |
|
January 2013 |
March 2017 |
March 2017 |
December 11, 2012 |
April 19, 2017 |
|
- National Institutes of Health Clinical Center, 9000 Rockville Pike
Bethesda, Maryland, United States
|
| 21 |
NCT01760564 |
Completed |
Application of Miglustat in Patients With Niemann-Pick Type C |
- Niemann-Pick Disease Type C
|
|
Interventional |
Phase 3 |
- National Taiwan University Hospital
|
Other |
- Intervention Model: Single Group Assignment
- Masking: None (Open Label)
- Primary Purpose: Treatment
|
|
5 |
All |
Child, Adult, Senior |
NCT01760564 |
200802043M |
|
January 2008 |
December 2010 |
December 2010 |
January 4, 2013 |
January 4, 2013 |
|
- National Taiwan University Hospital
Taipei, Taiwan
|
| 22 |
NCT02534844 |
Active, not recruiting |
Study of VTS-270 (2-hydroxypropyl-β-cyclodextrin) to Treat Niemann-Pick Type C1 (NPC1) Disease |
- Niemann-Pick Disease, Type C
|
- Drug: VTS-270
- Drug: Sham Procedure Control
|
Interventional |
Phase 2
Phase 3 |
|
Industry |
- Allocation: Randomized
- Intervention Model: Parallel Assignment
- Masking: Quadruple (Participant, Care Provider, Investigator, Outcomes Assessor)
- Primary Purpose: Treatment
|
- NPC Clinical Severity Score
- Clinician and Caregiver Clinical Global Impression of Change
- Time to get up and go test
- (and 3 more...)
|
51 |
All |
4 Years to 21 Years (Child, Adult) |
NCT02534844 |
VTS301 |
|
September 2015 |
March 2017 |
March 2018 |
August 28, 2015 |
July 25, 2017 |
|
- Children's Hospital of Orange County
Orange, California, United States - University of California San Francisco
San Francisco, California, United States - Rush University Medical Center
Chicago, Illinois, United States - (and 18 more...)
|
| 23 |
NCT00001972 |
Completed |
PET Scan of Brain Metabolism in Relation to Age and Disease |
- Alzheimer's Disease
- Brain Neoplasm
- Niemann Pick Disease
|
|
Observational |
|
- National Institute of Neurological Disorders and Stroke (NINDS)
- National Institutes of Health Clinical Center (CC)
|
NIH |
|
|
123 |
All |
Child, Adult, Senior |
NCT00001972 |
940205
94-N-0205 |
|
September 1994 |
|
August 2002 |
January 19, 2000 |
March 4, 2008 |
|
- National Institute of Neurological Disorders and Stroke (NINDS)
Bethesda, Maryland, United States
|
| 24 |
NCT02120235 |
Recruiting |
Investigating Lysosomal Storage Diseases in Minority Groups |
- Lysosomal Storage Disorders
- Gaucher Disease
- Fabry Disease
- (and 2 more...)
|
|
Observational |
|
|
Other |
- Observational Model: Other
- Time Perspective: Other
|
- Number of patients identified with lysosomal storage disorders
|
20000 |
All |
up to 100 Years (Child, Adult, Senior) |
NCT02120235 |
14-CFCT-11 |
|
February 2014 |
February 2018 |
December 2018 |
April 22, 2014 |
April 4, 2017 |
|
- O&O Alpan, LLC
Fairfax, Virginia, United States
|
| 25 |
NCT00730314 |
Completed |
Unrelated Hematopoietic Stem Cell Transplantation(HSCT) for Genetic Diseases of Blood Cells |
- Sickle Cell Disease
- Thalassemia
- Anemia
- (and 9 more...)
|
- Procedure: Hematopoietic stem cell transplantation
|
Interventional |
Phase 1
Phase 2 |
- Children's Hospital Los Angeles
|
Other |
- Allocation: Non-Randomized
- Intervention Model: Parallel Assignment
- Masking: None (Open Label)
- Primary Purpose: Treatment
|
- toxicities
- adverse events
- engraftment
- (and 2 more...)
|
25 |
All |
up to 21 Years (Child, Adult) |
NCT00730314 |
CCI #07-00119
CHLA-#07-00119 |
|
August 2008 |
August 2015 |
August 2015 |
August 8, 2008 |
June 23, 2016 |
|
- Children Hospital Los Angeles
Los Angeles, California, United States
|
| 26 |
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
|
| 27 |
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
|
| 28 |
NCT02000310 |
Recruiting |
Molecular and Cellular Mechanisms of Lysosomal Storage Diseases |
- Lysosomal Storage Disorders
|
|
Observational |
|
|
Other |
- Observational Model: Cohort
- Time Perspective: Prospective
|
- Correlating genetic mutations with clinical signs and symptoms
- Associated Immune Pathophysiology
|
80 |
All |
up to 100 Years (Child, Adult, Senior) |
NCT02000310 |
13-CFCT-07 |
|
November 2013 |
December 2017 |
March 2018 |
December 4, 2013 |
September 28, 2016 |
|
- O&O Alpan, LLC
Fairfax, Virginia, United States
|
| 29 |
NCT03333200 |
Recruiting |
Longitudinal Study of Neurodegenerative Disorders |
- MLD
- Krabbe Disease
- ALD
- (and 24 more...)
|
- Other: Palliative Care
- Biological: Hematopoetic Stem Cell Transplantation
|
Observational |
|
|
Other |
- Observational Model: Cohort
- Time Perspective: Prospective
|
- Cognitive development
- Language development
- Gross Motor development .
- (and 4 more...)
|
1500 |
All |
Child, Adult, Senior |
NCT03333200 |
PRO11050036 |
|
January 11, 2012 |
January 2030 |
January 2035 |
November 6, 2017 |
February 1, 2018 |
|
- The Program for the Study of Neurodevelopment in Rare Disorders, Children's Hospital of Pittsburgh of UPMC
Pittsburgh, Pennsylvania, United States
|
| 30 |
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
|
| 31 |
NCT01372228 |
Active, not recruiting |
Phase I/II Pilot Study of Mixed Chimerism to Treat Inherited Metabolic Disorders |
- Hurler Syndrome (MPS I)
- Hurler-Scheie Syndrome
- Hunter Syndrome (MPS II)
- (and 9 more...)
|
- Biological: hematopoietic stem cell infusion
|
Interventional |
Phase 1
Phase 2 |
- University of Louisville
- Duke University
|
Other |
- Intervention Model: Single Group Assignment
- Masking: None (Open Label)
- Primary Purpose: Treatment
|
- Production of missing enzyme at levels greater than or equal to 10% of normal
- Enriched Hematopoetic Stem Cell Engraftment
|
30 |
All |
Child, Adult, Senior |
NCT01372228 |
ICT-14070-010611 |
|
April 2011 |
April 2025 |
April 2028 |
June 13, 2011 |
November 17, 2017 |
|
- Duke University Medical Center
Durham, North Carolina, United States
|
| 32 |
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
|
| 33 |
NCT02014246 |
Recruiting |
Genetic Characterization of Movement Disorders and Dementias |
- Ataxia
- Dystonia
- Parkinson's Disease
- (and 12 more...)
|
|
Observational |
|
- National Institute on Aging (NIA)
- National Institutes of Health Clinical Center (CC)
|
NIH |
- Observational Model: Case-Control
- Time Perspective: Other
|
- Identify and characterize genetic contributions to etiology for movement disorders, such as dystonia, Parkinson's disease, and dementias, such as Alzheimer's disease, Lewy Body Dementia, frontotemporal dementia.
|
12000 |
All |
18 Years and older (Adult, Senior) |
NCT02014246 |
999903329
03-AG-N329 |
|
February 12, 2003 |
December 31, 2018 |
December 31, 2018 |
December 18, 2013 |
April 6, 2018 |
|
- National Institute of Aging, Clinical Research Unit
Baltimore, Maryland, United States
|
| 34 |
NCT02254863 |
Recruiting |
UCB Transplant of Inherited Metabolic Diseases With Administration of Intrathecal UCB Derived Oligodendrocyte-Like Cells |
- Adrenoleukodystrophy
- Batten Disease
- Mucopolysaccharidosis II
- (and 9 more...)
|
|
Interventional |
Phase 1 |
- Joanne Kurtzberg, MD
- The Marcus Foundation
- Duke University
|
Other |
- Intervention Model: Single Group Assignment
- Masking: None (Open Label)
- Primary Purpose: Treatment
|
- Evaluate for Infusional Toxicity
- Evaluate for Neuro Toxicity
- Efficacy determination
|
12 |
All |
up to 22 Years (Child, Adult) |
NCT02254863 |
Pro00050198 |
DUOC-01 |
September 2014 |
September 2018 |
September 2018 |
October 2, 2014 |
March 16, 2018 |
|
- Duke University Medical Center
Durham, North Carolina, United States
|
| 35 |
NCT00654433 |
Terminated |
ALD-101 Adjuvant Therapy of Unrelated Umbilical Cord Blood Transfusion (UCBT) in Patients With Inherited Metabolic Diseases |
- Inherited Metabolic Diseases
- Lysosomal Storage Disorders
- Peroxisomal Storage Diseases
- (and 2 more...)
|
|
Interventional |
Phase 3 |
|
Industry |
- Intervention Model: Single Group Assignment
- Masking: None (Open Label)
- Primary Purpose: Treatment
|
- To assess the efficacy of adjuvant therapy of ALD-101 in accelerating platelet engraftment in patients also receiving a standard unrelated UCBT for treatment of inherited metabolic diseases
- To assess the efficacy of ALD-101 in accelerating neutrophil engraftment
- To assess the safety of adjuvant therapy of ALD-101 in infusional toxicity, adverse events, and primary graft failure.
|
40 |
All |
up to 16 Years (Child) |
NCT00654433 |
UCBT-002
BB-IND#13502 |
UCBT-002 |
March 2008 |
July 2011 |
November 2011 |
April 8, 2008 |
July 8, 2014 |
|
- Mattel Children's Hospital at UCLA
Los Angeles, California, United States - Mt. Sinai Medical Center
New York, New York, United States - Duke University
Durham, North Carolina, United States
|
| 36 |
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...)
|
| 37 |
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
|
| 38 |
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
|
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