| 1 |
NCT02843555 |
Recruiting |
Natural History of the Leukodystrophies |
|
|
Observational
|
|
- Baylor Research Institute
|
Other |
- Observational Model: Cohort
- Time Perspective: Prospective
|
- Neuropsychological evaluation to measure baseline cognitive function and detect signs of dementia over time
- Evoked potentials to assess involvement of different areas of brain over time
- MRI of the brain to assess involvement of different areas of the brain over time
- (and 8 more...)
|
50 |
All |
Child, Adult, Older Adult |
NCT02843555 |
008-169 |
|
August 2008 |
December 2022 |
December 2025 |
July 26, 2016 |
July 26, 2016 |
|
- Baylor University Medical Center
Dallas, Texas, United States
|
|
| 2 |
NCT01536327 |
Recruiting |
Biomarker for Metachromatic Leukodystrophy Disease |
- Leukodystrophy, Metachromatic
- Hereditary Central Nervous System Demyelinating Diseases
- Brain Diseases, Metabolic, Inborn
- (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 Metachromatic Leukodystrophy disease from plasma and saliva
- Testing for clinical robustness, specificity and long-term stability of the biomarker
|
80 |
All |
Child, Adult, Older Adult |
NCT01536327 |
BMLE11/2011 |
BioMeta |
September 2011 |
September 2018 |
October 2018 |
February 22, 2012 |
May 21, 2018 |
|
- Pediatric practice
Oran, Algeria - University of Rostock, Albrecht-Kossel-Institute for Neuroregeneration
Rostock, Germany - NIRMAN, University of Mumbai
Mumbai, India
|
|
| 3 |
NCT01325025 |
Completed |
Imaging Study of the White Matter Lesions in Children With Metachromatic Leucodystrophy |
- Late Infantile Metachromatic Leukodystrophy
|
- Other: High-field MRI (3 Teslas)
|
Interventional
|
Not Applicable |
- Assistance Publique - Hôpitaux de Paris
- European Leukodystrophy Association
|
Other |
- Allocation: Non-Randomized
- Intervention Model: Parallel Assignment
- Masking: None (Open Label)
|
- Assess the natural history of the white matter and cortex lesions in MLD using diffusion tensor imaging (DTI)and relaxometry/ high field MRI.
- Assess the natural history of the white matter and cortex lesions in MLD using using multi-voxel spectroscopic imaging.
- Assess the evolution of cortical atrophy,
- Correlate the neuroimaging parameters with motor function measure (Gross Motor Function Measure) and cognitive tests (BSID, WPPSI).
|
29 |
All |
1 Year to 6 Years (Child) |
NCT01325025 |
P071232 |
HCIT-MLD |
November 2010 |
March 2016 |
July 2016 |
March 29, 2011 |
August 2, 2016 |
|
- Unité de recherche biomédicale, Neurospin, I2BM / DSV / SAC/ CEA,
Gif-sur-yvette, France - Service de Neurologie Pédiatrique, Hôpital Bicêtre
Paris, France - Bâtiment Lavoisier - Unité INSERM U 663,Hôpital Necker Enfants Malades
Paris, France
|
|
| 4 |
NCT02723448 |
Recruiting |
Aclarubicin for the Treatment of Retinal Vasculopathy With Cerebral Leukodystrophy |
- Vasculopathy, Retinal, With Cerebral Leukodystrophy
- Cerebroretinal Vasculopathy, Hereditary
|
|
Interventional
|
Phase 1 |
- Washington University School of Medicine
|
Other |
- Intervention Model: Single Group Assignment
- Masking: None (Open Label)
- Primary Purpose: Treatment
|
- Change in Lesion Pattern on Fluid-Attenuated Inversion Recovery (FLAIR) Magnetic Resonance Imaging (MRI) in Retinal Vasculopathy Cerebral Leukodystrophy (RVCL) patients
|
10 |
All |
18 Years and older (Adult, Older Adult) |
NCT02723448 |
ATK2016001 |
RVCL |
December 2016 |
December 2018 |
March 2019 |
March 30, 2016 |
May 3, 2018 |
|
- Washington University School of Medicine
Saint Louis, Missouri, United States
|
|
| 5 |
NCT01801709 |
Active, not recruiting |
Intracerebral Gene Therapy for Children With Early Onset Forms of Metachromatic Leukodystrophy |
- Metachromatic Leukodystrophy
|
- Genetic: intracerebral administration of AAVrh.10cuARSA
|
Interventional
|
Phase 1
Phase 2 |
- Institut National de la Santé Et de la Recherche Médicale, France
- European Leukodystrophy Association
- Assistance Publique - Hôpitaux de Paris
|
Other |
- Intervention Model: Single Group Assignment
- Masking: None (Open Label)
- Primary Purpose: Treatment
|
- Evaluate the tolerance of the intracerebral administration of a single dose of AAVrh.10cuARSA
- Evaluate the efficacy of intracerebral administration of a single dose of AAVrh.10cuARSA to stop the disease progression.
|
5 |
All |
6 Months to 5 Years (Child) |
NCT01801709 |
C11-09
2011-004410-42 |
TG-MLD |
March 2013 |
March 2018 |
April 2019 |
March 1, 2013 |
July 21, 2017 |
|
- Bicêtre Hospital - Paris Sud
Le Kremlin-Bicêtre, France
|
|
| 6 |
NCT02699190 |
Recruiting |
LeukoSEQ: Whole Genome Sequencing as a First-Line Diagnostic Tool for Leukodystrophies |
- Leukodystrophy
- White Matter Disease
|
- Other: Whole Genome Sequencing (WGS)
- Other: Standard Clinical Care and Diagnostic Approaches
|
Interventional
|
Not Applicable |
- Children's Hospital of Philadelphia
- Illumina, Inc.
|
Other / Industry |
- Allocation: Randomized
- Intervention Model: Crossover Assignment
- Masking: Triple (Participant, Care Provider, Investigator)
- Primary Purpose: Diagnostic
|
- Number of Successful Diagnoses
- Time to Diagnosis
|
150 |
All |
up to 18 Years (Child, Adult) |
NCT02699190 |
16-013213 |
|
January 6, 2017 |
October 1, 2018 |
April 1, 2020 |
March 4, 2016 |
April 30, 2018 |
|
- The Children's Hospital of Philadelphia
Philadelphia, Pennsylvania, United States
|
|
| 7 |
NCT01510028 |
Completed |
Multicenter Study of HGT-1110 Administered Intrathecally in Children With Metachromatic Leukodystrophy (MLD) |
- Metachromatic Leukodystrophy (MLD)
|
- Biological: Recombinant human arylsulfatase A
|
Interventional
|
Phase 1
Phase 2 |
|
Industry |
- Allocation: Non-Randomized
- Intervention Model: Parallel Assignment
- Masking: None (Open Label)
- Primary Purpose: Treatment
|
- Cohorts 1-3: Safety of IT HGT-1110 administration
- Cohort 4:Safety of the administration of IT HGT-1110 produced with a revised drug substance manufacturing pro
- Clinical activity of IT administration of HGT-1110 on gross motor function
- (and 2 more...)
|
24 |
All |
up to 12 Years (Child) |
NCT01510028 |
HGT-MLD-070
2011-002044-28
U1111-1153-1422 |
IDEAMLD |
August 2012 |
January 2017 |
January 2017 |
January 13, 2012 |
February 2, 2017 |
|
- The Children's Hospital at Westmead
Westmead, Australia - Rigshospitalet
København, Denmark - Hopital de Bicetre
Le Kremlin Bicetre, Ile-de-France, France - (and 2 more...)
|
|
| 8 |
NCT01093105 |
Withdrawn |
An Observational Study of Pediatric Subjects With Globoid Cell Leukodystrophy (GLD) |
- Leukodystrophy, Globoid Cell
|
|
Observational
|
|
- Shire
- PharmaNet
- Nextrials, Inc.
|
Industry |
- Observational Model: Cohort
- Time Perspective: Prospective
|
- To measure the change from baseline in growth parameters (eg, weight gain, linear growth, head circumference).
- To determine the onset date of inadequate oral nutrition, hydration, and/or ventilation as a biomarker for survival
- To assess the change from baseline in clinical parameters of GLD disease progression from a standardized infant neurological examination and infant distress scales.
- (and 3 more...)
|
0 |
All |
up to 21 Months (Child) |
NCT01093105 |
HGT-GLD-056 |
|
|
|
|
March 25, 2010 |
February 21, 2014 |
|
|
|
| 9 |
NCT00983879 |
Completed |
The Natural History of Infantile Globoid Cell Leukodystrophy |
- Infantile Globoid Cell Leukodystrophy
|
|
Observational
|
|
- Zymenex A/S
- Chiesi Farmaceutici S.p.A.
|
Industry |
- Observational Model: Case-Only
- Time Perspective: Prospective
|
- This longitudinal observational study will collect information on patients diagnosed with infantile globoid cell leukodystrophy over approximately an 18-month period.
|
6 |
All |
up to 2 Years (Child) |
NCT00983879 |
rhGALC-01 |
|
September 2009 |
July 2014 |
July 2014 |
September 24, 2009 |
March 8, 2018 |
|
- Children's Hospital of Pittsburgh, 4401 One Children's Hospital Drive,4401 Penn Avenue
Pittsburgh, Pennsylvania, United States
|
|
| 10 |
NCT01887938 |
Enrolling by invitation |
Open-Label Extension Study Evaluating Safety and Efficacy of HGT-1110 in Patients With Metachromatic Leukodystrophy |
- Metachromatic Leukodystrophy (MLD)
|
- Biological: Recombinant human arylsulfatase A
|
Interventional
|
Phase 1
Phase 2 |
|
Industry |
- Allocation: Non-Randomized
- Intervention Model: Parallel Assignment
- Masking: None (Open Label)
- Primary Purpose: Treatment
|
- Safety of IT HGT-1110 administration
- Clinical activity of IT administration of HGT-1110 on gross motor function
- Concentrations of HGT-1110 in CSF after single and repeated dose administration
|
24 |
All |
up to 13 Years (Child) |
NCT01887938 |
HGT-MLD-071
UTN: U1111-1153-1480
2012-003775-20 |
|
May 1, 2013 |
October 1, 2023 |
October 1, 2023 |
June 27, 2013 |
November 27, 2017 |
|
- The Children's Hospital at Westmead
Westmead, Australia - Hospital de Clinicas de Porto Alegre
Porto Alegre, Brazil - Detska Interni Klinika, Lf Mu A Fn Brno
Brno, Czechia - (and 12 more...)
|
|
| 11 |
NCT03047369 |
Recruiting |
The Myelin Disorders Biorepository Project |
- Leukodystrophy
- White Matter Disease
- Leukoencephalopathies
|
|
Observational
|
|
- Children's Hospital of Philadelphia
- Massachusetts General Hospital
- University of Wisconsin, Madison
- Alfred I. duPont Hospital for Children
|
Other |
- Observational Model: Cohort
- Time Perspective: Prospective
|
- Define Novel Homogeneous Groups of Patients with Unclassified Leukodystrophy
- Assess Validity of Next-Generation Sequencing in the Diagnosis of Leukodystrophies
- Assess Utility of Next-Generation Sequencing in the Diagnosis of Leukodystrophies
- (and 3 more...)
|
12000 |
All |
Child, Adult, Older Adult |
NCT03047369 |
14-011236 |
MDBP |
December 8, 2016 |
December 8, 2026 |
December 8, 2026 |
February 9, 2017 |
March 20, 2018 |
|
- The Children's Hospital of Philadelphia
Philadelphia, Pennsylvania, United States
|
|
| 12 |
NCT00683189 |
Completed |
Effect of Warfarin in the Treatment of Metachromatic Leukodystrophy |
- Metachromatic Leukodystrophy
|
|
Interventional
|
Not Applicable |
|
Other |
- Intervention Model: Single Group Assignment
- Masking: None (Open Label)
- Primary Purpose: Treatment
|
- Quantitative Neurological Assessment
- Urine Sulfatides Quantification
- Brain MRI
|
10 |
All |
1 Year to 10 Years (Child) |
NCT00683189 |
RP#07/063 |
|
June 2007 |
May 2008 |
May 2008 |
May 23, 2008 |
March 21, 2011 |
|
- Cooper University Hospital
Camden, New Jersey, United States
|
|
| 13 |
NCT02559830 |
Recruiting |
Autologous Hematopoietic Stem Cell Gene Therapy for Metachromatic Leukodystrophy and Adrenoleukodystrophy |
- Metachromatic Leukodystrophy
- Adrenoleukodystrophy
|
- Genetic: transduced CD34+ hematopoietic stem cell
|
Interventional
|
Phase 1
Phase 2 |
- Shenzhen Second People's Hospital
- Shenzhen University
- Guangzhou Women and Children's Medical Center
|
Other |
- Intervention Model: Single Group Assignment
- Masking: None (Open Label)
- Primary Purpose: Treatment
|
- The short-term safety and tolerability after hematopoietic stem cell transplanation
- Incidence of Treatment-Emergent Adverse Events(For MLD)
- Incidence of Treatment-Emergent Adverse Events(For ALD)
- (and 10 more...)
|
50 |
All |
2 Years to 45 Years (Child, Adult) |
NCT02559830 |
ChiCTR-OPC-15005802 |
|
January 2015 |
October 2025 |
October 2025 |
September 24, 2015 |
September 24, 2015 |
|
- Shenzhen Second People's Hospital, The First Affiliated Hospital of Shenzhen University
Shenzhen, Guangdong, China
|
|
| 14 |
NCT00889174 |
Completed |
The Nosology and Etiology of Leukodystrophies of Unknown Causes |
- Leukodystrophy
- Leukoencephalopathy
|
|
Observational
|
|
- National Human Genome Research Institute (NHGRI)
- National Institutes of Health Clinical Center (CC)
|
NIH |
- Observational Model: Cohort
- Time Perspective: Other
|
|
76 |
All |
1 Month to 99 Years (Child, Adult, Older Adult) |
NCT00889174 |
090128
09-HG-0128 |
|
April 24, 2009 |
|
|
April 28, 2009 |
June 1, 2018 |
|
- National Institutes of Health Clinical Center, 9000 Rockville Pike
Bethesda, Maryland, United States
|
|
| 15 |
NCT00639132 |
Active, not recruiting |
The Natural History of Metachromatic Leukodystrophy |
- Metachromatic Leukodystrophy
|
|
Observational
|
|
|
Other |
- Observational Model: Case-Only
- Time Perspective: Prospective
|
- Results of cognitive and motor testing
- Audiology
- MRI
|
10 |
All |
up to 6 Years (Child) |
NCT00639132 |
NH-US |
NH-US |
January 2012 |
January 2021 |
January 2026 |
March 19, 2008 |
February 6, 2018 |
|
- University of Pittsburgh, Children's Hospital of Pittsburgh-UPMC
Pittsburgh, Pennsylvania, United States
|
|
| 16 |
NCT00633139 |
Completed
Has Results |
Long-term Metazym Treatment of Patients With Late Infantile Metachromatic Leukodystrophy (MLD) |
- Late Infantile Metachromatic Leukodystrophy
|
- Biological: Recombinant human Arylsulfatase A (rhASA)
|
Interventional
|
Phase 1
Phase 2 |
|
Industry |
- Allocation: Non-Randomized
- Intervention Model: Parallel Assignment
- Masking: None (Open Label)
- Primary Purpose: Treatment
|
- Relative Changes (%) in Gross Motor Function Measurement (GMFM)
- Relative Change in Mullen's Scales of Early Learning
- Change in Cerebrospinal Fluid (CSF) Sulfatide
|
13 |
All |
1 Year to 5 Years (Child) |
NCT00633139 |
HGT-MLD-048
2007-006345-40
2006-005341-11 |
|
August 2007 |
September 2008 |
September 2008 |
March 11, 2008 |
August 5, 2015 |
June 15, 2012 |
- PhaseOneTrials A/S
Hvidovre, Denmark
|
|
| 17 |
NCT01560182 |
Active, not recruiting |
Gene Therapy for Metachromatic Leukodystrophy |
- Lysosomal Storage Disease
|
- Genetic: Autologous CD34+ stem cells transduced with ARSA encoding lentiviral vector
|
Interventional
|
Phase 2 |
- GlaxoSmithKline
- Fondazione Telethon
|
Industry / Other |
- Intervention Model: Single Group Assignment
- Masking: None (Open Label)
- Primary Purpose: Treatment
|
- Conditioning regimen-related safety
- Conditioning regimen-related toxicity
- The short-term safety and tolerability of lentiviral-transduced cell infusion
- (and 7 more...)
|
14 |
All |
Child, Adult, Older Adult |
NCT01560182 |
201222
Eudract 2009-017349-77 |
TIGET-MLD |
May 2010 |
April 2023 |
April 2023 |
March 22, 2012 |
March 24, 2017 |
|
- GSK Investigational Site
Milan, Italy
|
|
| 18 |
NCT00418561 |
Completed
Has Results |
Metazym for the Treatment of Patients With Late Infantile Metachromatic Leukodystrophy (MLD) |
- Metachromatic Leukodystrophy (MLD)
|
|
Interventional
|
Phase 1 |
|
Industry |
- Allocation: Non-Randomized
- Intervention Model: Factorial Assignment
- Masking: None (Open Label)
- Primary Purpose: Treatment
|
- Number of Participants With Treatment-emergent Adverse Events (TEAEs)
- Change From Baseline in Gross Motor Function Measure (GMFM) at Week 26
- Change From Baseline in Cerebrospinal Fluid (CSF) Sulfatide at Week 26
- (and 8 more...)
|
13 |
All |
1 Year to 5 Years (Child) |
NCT00418561 |
rhASA-01
2006-005341-11 |
|
January 2007 |
March 2008 |
March 2008 |
January 5, 2007 |
April 27, 2016 |
August 13, 2015 |
- Rigshospitalet
Hvidovre, Denmark
|
|
| 19 |
NCT01303146 |
Completed |
Efficacy METAZYM for the Treatment Metachromatic Leukodystrophy Treated With Hematopoietic Stem Cell Transplantation |
- Metachromatic Leukodystrophy
|
|
Interventional
|
Phase 2 |
- Assistance Publique - Hôpitaux de Paris
- European Leukodystrophy Association
- Zymenex A/S
- Shire
|
Other / Industry |
- Allocation: Non-Randomized
- Intervention Model: Single Group Assignment
- Masking: None (Open Label)
- Primary Purpose: Treatment
|
- Efficacy of METAZYM on peripheral nerve function by electrophysiological studies (motor and sensory nerves conduction velocities) every 6 months;
- Efficacy of METAZYM on peripheral nerve sulfatide storage and demyelination by nerve biopsy at baseline and week 26;
- Efficacy of METAZYM on functional capacity by assessing motor function (GMFM) every 6 months
- (and 2 more...)
|
1 |
All |
6 Months and older (Child, Adult, Older Adult) |
NCT01303146 |
P070805 |
Azylis |
October 2008 |
March 2010 |
April 2010 |
February 24, 2011 |
February 24, 2011 |
|
- Department of Pediatric Endocrinology and Neurology, Saint Vincent de Paul Hospital
Paris, France
|
|
| 20 |
NCT01963650 |
Terminated |
Natural History Study of Children With Metachromatic Leukodystrophy |
- Lipid Metabolism Disorders
- Metachromatic Leukodystrophy (MLD)
- Nervous System Diseases
- (and 11 more...)
|
|
Observational
|
|
|
Industry |
- Observational Model: Cohort
- Time Perspective: Prospective
|
- The primary endpoint of this study is the change from baseline in motor function using the GMFM-88 total (percent) score.
- The change from baseline in ability to swallow as assessed by the Functional Endoscopic Evaluation of Swallowing.
- The change from baseline in nerve conduction as measured by the electroneurography.
- (and 4 more...)
|
1 |
All |
up to 12 Years (Child) |
NCT01963650 |
HGT-MLD-092 |
|
December 2013 |
March 2016 |
March 2016 |
October 16, 2013 |
April 20, 2016 |
|
- Harbor UCLA Pediatrics
Torrance, California, United States - Children's National Health System
Washington, District of Columbia, United States - Ann & Robert H. Lurie Children's Hospital of Chicago
Chicago, Illinois, United States - (and 11 more...)
|
|
| 21 |
NCT00681811 |
Terminated
Has Results |
Open-Label Extension Study of Recombinant Human Arylsulfatase A (HGT-1111) in Late Infantile MLD |
- Late Infantile Metachromatic Leukodystrophy
|
|
Interventional
|
Phase 2 |
|
Industry |
- Allocation: Randomized
- Intervention Model: Parallel Assignment
- Masking: None (Open Label)
- Primary Purpose: Treatment
|
- Days of Exposure to HGT-1111
- Level of Cerebrospinal Fluid (CSF) Sulfatide
- Level of White Matter Metabolites
- Score of Gross Motor Function Measurement (GMFM)
|
11 |
All |
3 Years to 6 Years (Child) |
NCT00681811 |
HGT-MLD-049
2008-000084-41 |
|
February 2008 |
October 2010 |
October 2010 |
May 21, 2008 |
August 5, 2015 |
November 8, 2013 |
- Rigshospitalet
Copenhagen, Denmark
|
|
| 22 |
NCT00001671 |
Completed |
The Classification and Cause of Leukodystrophies of Unknown Cause |
- Lysosomal Storage Disease
|
|
Observational
|
|
- National Institute of Neurological Disorders and Stroke (NINDS)
- National Institutes of Health Clinical Center (CC)
|
NIH |
|
|
400 |
All |
Child, Adult, Older Adult |
NCT00001671 |
970170
97-N-0170 |
|
September 9, 1997 |
|
December 15, 2008 |
November 4, 1999 |
July 2, 2017 |
|
- University of California, San Francisco
San Francisco, California, United States - Childrens National Medical Center
Washington, D.C., District of Columbia, United States - Institut National de la Sante' et de la Recherche Medicale
Clermont-Ferrand, Cedex, France - (and 2 more...)
|
|
| 23 |
NCT03392987 |
Recruiting |
A Safety and Efficacy Study of Cryopreserved GSK2696274 for Treatment of Metachromatic Leukodystrophy (MLD) |
- Lysosomal Storage Disease
|
|
Interventional
|
Phase 3 |
- GlaxoSmithKline
- Ospedale (Hospital) San Raffaele - Telethon Institute for Gene Therapy (OSR-TIGET)
|
Industry / Other |
- Intervention Model: Single Group Assignment
- Masking: None (Open Label)
- Primary Purpose: Treatment
|
- Change in Gross Motor Function Measure (GMFM) score
- Change in Gross Motor Function Classification (GMFC)-MLD score
- Change in neurological examinations
- (and 15 more...)
|
10 |
All |
Child, Adult, Older Adult |
NCT03392987 |
205756 |
|
December 15, 2017 |
August 22, 2022 |
August 23, 2028 |
January 8, 2018 |
January 8, 2018 |
|
- GSK Investigational Site
Milan, Italy
|
|
| 24 |
NCT02084121 |
No longer available |
Allogeneic Stem Cell Transplantation for the Treatment of Multiple Sclerosis (Compassionate Use) |
- Metachromatic Leukodystrophy
|
- Biological: Enriched Hematopoetic Stem Cell Infusion
|
Expanded Access
|
|
- University of Louisville
- Duke University
|
Other |
|
|
|
Male |
3 Years and older (Child, Adult, Older Adult) |
NCT02084121 |
ICT-13080-Compassionate Use |
|
|
|
|
March 11, 2014 |
April 20, 2018 |
|
- Duke University
Durham, North Carolina, United States
|
|
| 25 |
NCT02021266 |
No longer available |
Single Patient Expanded Access Protocol: Metabolic Boost |
- Metachromatic Leukodystrophy
|
- Biological: Enriched Hematopoetic Stem Cell Infusion
|
Expanded Access
|
|
- University of Louisville
- Duke University
|
Other |
|
|
|
Female |
Child, Adult, Older Adult |
NCT02021266 |
ICT-14070-120611-Exp Access |
Boost |
|
|
|
December 27, 2013 |
May 22, 2018 |
|
- Duke University
Durham, North Carolina, United States
|
|
| 26 |
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, Older Adult |
NCT01372228 |
ICT-14070-010611 |
|
April 2011 |
April 2025 |
April 2028 |
June 13, 2011 |
May 22, 2018 |
|
- Duke University Medical Center
Durham, North Carolina, United States
|
|
| 27 |
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, Older Adult) |
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
|
|
| 28 |
NCT00657748 |
Withdrawn |
Lithium and Acetate for Canavan Disease |
- Canavan Disease
- Infantile
- Deficiency Disease
- (and 2 more...)
|
- Drug: Lithium Gluconate (drug) Glyceryl Triacetate GTA (drug)
|
Interventional
|
Phase 2 |
- Assistance Publique - Hôpitaux de Paris
- European Leukodystrophy Association
|
Other |
- Intervention Model: Single Group Assignment
- Masking: None (Open Label)
- Primary Purpose: Treatment
|
- The primary outcome will be a decrease of the NAA peak (> 20%) or the appearance of an acetate peak at the end of the treatment (10 months), using spectroscopy-MRI.
- Secondary outcomes will be assessed at 10 months (end of the treatment): -Improvement of neuromotor performances (GMFM and Mullen scales), spasticity, and neurological severity
- -Improvement of epilepsy (number of seizures)
- -Decrease in NAA and increase in acetate contents in fluids (CSF, plasma, urine).
|
0 |
All |
1 Year to 15 Years (Child) |
NCT00657748 |
P070803 |
|
September 2009 |
September 2010 |
January 2011 |
April 14, 2008 |
April 21, 2015 |
|
|
|
| 29 |
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
|
|
| 30 |
NCT03304717 |
Not yet recruiting |
Reverse Transcriptase Inhibitors in Aicardi Goutières Syndrome |
- Aicardi Goutières Syndrome
|
- Drug: Tenofovir (TDF) and Emtricitabine (FTC)
- Other: Placebo
|
Interventional
|
Phase 1
Phase 2 |
- Children's Hospital of Philadelphia
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
- National Human Genome Research Institute (NHGRI)
- (and 2 more...)
|
Other / NIH / Industry |
- Allocation: Randomized
- Intervention Model: Crossover Assignment
- Masking: Triple (Participant, Care Provider, Investigator)
- Primary Purpose: Treatment
|
- Change in interferon activation as measured by interferon response genes
- Determination of immune cell composition in CSF
- Determination of immune cell composition in blood
- (and 5 more...)
|
34 |
All |
2 Years to 18 Years (Child, Adult) |
NCT03304717 |
17-013715
U01HD082806-03 |
RTIAGS |
January 2018 |
November 2020 |
November 2020 |
October 9, 2017 |
October 9, 2017 |
|
- Children's Hospital of Philadelphia
Philadelphia, Pennsylvania, United States
|
|
| 31 |
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, Older Adult |
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
|
|
| 32 |
NCT02298647 |
Recruiting |
Biomarker for GM1/GM2 - Gangliosidoses |
- Gangliosidosis
- GM1-Gangliosidosis
- GM2-Gangliosidosis
- (and 4 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 GM1/GM2 -gangliosidoses from plasma and saliva using
- Testing for clinical robustness, specificity and long-term stability of the biomarker
|
50 |
All |
2 Months and older (Child, Adult, Older Adult) |
NCT02298647 |
BGM 03-2014 |
BioGM1BioGM2 |
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
|
|
| 33 |
NCT02714764 |
Recruiting |
Natural History and Outcome Measures in Alexander Disease |
|
|
Observational
|
|
- Children's Hospital of Philadelphia
- Children's Research Institute
|
Other |
- Observational Model: Case-Only
- Time Perspective: Prospective
|
- Change in Gross Motor Function Over Time
- Change in the Bruininks-Oseretsky Test of Motor Proficiency Over Time
|
100 |
All |
Child, Adult, Older Adult |
NCT02714764 |
16-012649 |
|
January 2016 |
December 2026 |
December 2026 |
March 21, 2016 |
September 25, 2017 |
|
- Children's Hospital of Philadelphia
Philadelphia, Pennsylvania, United States
|
|
| 34 |
NCT01594853 |
Completed |
Exercise Study of Function and Pathology for Women With X-linked Adrenoleukodystrophy |
- X-linked Adrenoleukodystrophy
|
- Behavioral: exercise training
|
Interventional
|
Not Applicable |
- Hugo W. Moser Research Institute at Kennedy Krieger, Inc.
- European Leukodystrophy Association
|
Other |
- Intervention Model: Single Group Assignment
- Masking: None (Open Label)
- Primary Purpose: Treatment
|
- Change in maximal voluntary contraction of the hip flexors from baseline to end of training and to post-training
|
31 |
Female |
21 Years to 70 Years (Adult, Older Adult) |
NCT01594853 |
NA_00045673 |
|
May 2012 |
October 2014 |
October 2014 |
May 9, 2012 |
January 9, 2015 |
|
- Motion Analysis Lab
Baltimore, Maryland, United States
|
|
| 35 |
NCT00006057 |
Completed |
Diagnostic and Screening Study of Genetic Disorders |
- Tay-Sachs Disease
- Porphyria, Erythropoietic
- Leukodystrophy, Globoid Cell
- Metabolism, Inborn Errors
|
|
Observational
|
|
- National Center for Research Resources (NCRR)
- Icahn School of Medicine at Mount Sinai
|
NIH / Other |
- Primary Purpose: Screening
|
|
50 |
All |
Child, Adult, Older Adult |
NCT00006057 |
199/15151
MTS-GCO-88-459 |
|
December 1999 |
|
|
July 6, 2000 |
June 24, 2005 |
|
- Mount Sinai School of Medicine
New York, New York, United States
|
|
| 36 |
NCT00013832 |
Completed |
Study of Tongue Pressures |
- Deglutition Disorder
- Healthy
|
|
Observational
|
|
- National Institutes of Health Clinical Center (CC)
|
NIH |
|
|
160 |
All |
21 Years and older (Adult, Older Adult) |
NCT00013832 |
010135
01-CC-0135 |
|
March 28, 2001 |
|
April 11, 2007 |
April 2, 2001 |
July 2, 2017 |
|
- National Institutes of Health Clinical Center, 9000 Rockville Pike
Bethesda, Maryland, United States
|
|
| 37 |
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, Older Adult |
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
|
|
| 38 |
NCT00016562 |
Completed |
Cause and Pathogenesis of Neurometabolic Disorders |
- Neurodegenerative Disease
|
|
Observational
|
|
- National Institute of Neurological Disorders and Stroke (NINDS)
- National Institutes of Health Clinical Center (CC)
|
NIH |
|
|
20 |
All |
Child, Adult, Older Adult |
NCT00016562 |
010174
01-N-0174 |
|
May 13, 2001 |
|
March 3, 2008 |
May 17, 2001 |
July 2, 2017 |
|
- National Institutes of Health Clinical Center, 9000 Rockville Pike
Bethesda, Maryland, United States
|
|
| 39 |
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
|
|
| 40 |
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, Older Adult) |
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
|
|
| 41 |
NCT00004378 |
Completed |
Stem Cell Transplantation (SCT) for Genetic Diseases |
- Thrombocytopenia
- Metachromatic Leukodystrophy
- Fanconi's Anemia
- (and 3 more...)
|
- Procedure: Stem Cell Transplantation
|
Interventional
|
Not Applicable |
- National Center for Research Resources (NCRR)
- University of California, Los Angeles
|
NIH / Other |
- Primary Purpose: Treatment
|
|
|
All |
up to 17 Years (Child) |
NCT00004378 |
199/11981
UCLA-92010034 |
|
January 1995 |
|
|
October 19, 1999 |
June 24, 2005 |
|
- University of California Los Angeles Medical Center
Los Angeles, California, United States
|
|
| 42 |
NCT02171104 |
Recruiting |
MT2013-31: Allo HCT for Metabolic Disorders and Severe Osteopetrosis |
- Mucopolysaccharidosis Disorders
- Hurler Syndrome
- Hunter Syndrome
- (and 26 more...)
|
- Biological: Stem Cell Transplantation
- Drug: IMD Preparative Regimen
- Drug: Osteopetrosis Only Preparative Regimen
- (and 5 more...)
|
Interventional
|
Phase 2 |
- Masonic Cancer Center, University of Minnesota
|
Other |
- Allocation: Randomized
- Intervention Model: Single Group Assignment
- Masking: None (Open Label)
- Primary Purpose: Treatment
|
- Percent of subjects who achieve high-level donor hematopoietic engraftment
- Graft-versus-host disease
- Transplant-related mortality
- (and 2 more...)
|
100 |
All |
up to 55 Years (Child, Adult) |
NCT02171104 |
2013LS104 |
|
July 10, 2014 |
September 2019 |
September 2019 |
June 23, 2014 |
January 23, 2018 |
|
- Masonic Cancer Center, University of Minnesota
Minneapolis, Minnesota, United States
|
|
| 43 |
NCT00787865 |
Active, not recruiting |
Diffusion Tensor Imaging (DTI) in Infants With Krabbe Disease |
|
|
Observational
|
|
- Maria Escolar
- National Institute of Neurological Disorders and Stroke (NINDS)
- University of Pittsburgh
|
Other / NIH |
- Observational Model: Case-Control
- Time Perspective: Prospective
|
- Diffusion tensor imaging (DTI) of corticospinal tracts
- Motor development at birth, 1 year and 2 years of age
- Analysis of DTI-Fractional Diffusion Anisotropy (FA) values of corticospinal tracts of newborns
|
100 |
All |
up to 17 Years (Child) |
NCT00787865 |
PRO11050010
R01NS061965 |
|
April 2008 |
April 2021 |
April 2026 |
November 10, 2008 |
February 6, 2018 |
|
- University of Pittsburgh, Children's Hospital of Pittsburgh-UPMC
Pittsburgh, Pennsylvania, United States
|
|
| 44 |
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, Older Adult |
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
|
|
| 45 |
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
|
|
| 46 |
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, Older Adult |
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
|
|
| 47 |
NCT01043640 |
Completed
Has Results |
Allogeneic Bone Marrow Transplant for Inherited Metabolic Disorders |
- Mucopolysaccharidosis
- Hurler Syndrome
- Hunter Syndrome
- (and 10 more...)
|
- Drug: Campath-1H
- Drug: Cyclophosphamide
- Drug: Busulfan
- (and 3 more...)
|
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 With Donor Derived Engraftment
- Number of Patients With Grade 0 Graft-Versus-Host Disease (GVHD)
- Number of Patients With Grade 1 Graft-Versus-Host Disease (GVHD)
- (and 5 more...)
|
46 |
All |
up to 21 Years (Child, Adult) |
NCT01043640 |
2009LS088
MT2009-19 |
|
December 2009 |
June 2015 |
June 2017 |
January 7, 2010 |
February 5, 2018 |
May 12, 2017 |
- Masonic Cancer Center, University of Minnesota
Minneapolis, Minnesota, United States
|
|
| 48 |
NCT01962415 |
Recruiting |
Reduced Intensity Conditioning for Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT |
- Primary Immunodeficiency (PID)
- Congenital Bone Marrow Failure Syndromes
- Inherited Metabolic Disorders (IMD)
- (and 2 more...)
|
- Drug: Hydroxyurea
- Drug: Alemtuzumab
- Drug: Fludarabine
- (and 2 more...)
|
Interventional
|
Phase 2 |
- Paul Szabolcs
- University of Pittsburgh
|
Other |
- Allocation: Non-Randomized
- Intervention Model: Parallel Assignment
- Masking: None (Open Label)
- Primary Purpose: Treatment
|
- Post-transplant treatment-related mortality (TRM)
- Neurodevelopmental milestones
- Immune Reconstitution
- (and 9 more...)
|
100 |
All |
2 Months to 40 Years (Child, Adult) |
NCT01962415 |
PRO13100018 |
HSCT+RIC |
February 4, 2014 |
November 2019 |
November 2020 |
October 14, 2013 |
May 25, 2018 |
|
- Children's Hospital of Pittsburgh of UPMC
Pittsburgh, Pennsylvania, United States
|
|
| 49 |
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
|
|
| 50 |
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
|
|
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