1 |
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, Senior |
NCT01536327 |
BMLE11/2011 |
BioMeta |
September 2011 |
September 2018 |
October 2018 |
February 22, 2012 |
May 4, 2017 |
|
- Pediatric practice
Oran, Algeria - University of Rostock, Albrecht-Kossel-Institute for Neuroregeneration
Rostock, Germany - NIRMAN, University of Mumbai
Mumbai, India
|
2 |
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, Senior) |
NCT02723448 |
ATK2016001 |
RVCL |
December 2016 |
December 2018 |
March 2019 |
March 30, 2016 |
December 16, 2016 |
|
- Washington University School of Medicine
Saint Louis, Missouri, United States
|
3 |
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...)
|
4 |
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
|
5 |
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
|
6 |
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
|
7 |
NCT02851563 |
Recruiting |
A Natural History Study of Canavan Disease |
|
|
Observational |
|
- Massachusetts General Hospital
- Universitätsklinikum Hamburg-Eppendorf
- New York University School of Medicine
|
Other |
- Observational Model: Cohort
- Time Perspective: Prospective
|
- Change in Gross Motor Function Measure over time
- Change in magnetic resonance imaging findings over time
|
10 |
All |
up to 99 Years (Child, Adult, Senior) |
NCT02851563 |
2015P002400 |
|
May 2016 |
May 2018 |
May 2018 |
August 1, 2016 |
May 16, 2017 |
|
- Massachusetts General Hospital
Boston, Massachusetts, United States - NYU Langone Medical Center
New York, New York, United States - University Medical Center Hamburg-Eppendorf
Hamburg, Germany
|
8 |
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, Senior |
NCT02714764 |
16-012649 |
|
January 2016 |
December 2026 |
December 2026 |
March 21, 2016 |
September 25, 2017 |
|
- Children's Hospital of Philadelphia
Philadelphia, Pennsylvania, United States
|
9 |
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, Senior |
NCT02021266 |
ICT-14070-120611-Exp Access |
Boost |
|
|
|
December 27, 2013 |
November 21, 2017 |
|
- Duke University
Durham, North Carolina, 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 |
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
|
12 |
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...)
|
13 |
NCT01391637 |
Completed |
Long-Term Follow-Up Study of Human Stem Cells Transplanted in Subjects With Connatal Pelizaeus-Merzbacher Disease (PMD) |
- Pelizaeus-Merzbacher Disease
- PMD
|
- Biological: HuCNS-SC transplant in the lead-in phase
|
Observational |
|
|
Industry |
- Observational Model: Cohort
- Time Perspective: Prospective
|
- Incidence of serious adverse events (SAEs), results of physical and neurological examination, laboratory tests and vital signs.
- Preliminary efficacy using Bayley-III and Callier-Azusa Scale.
- Changes in brain magnetic resonance imaging (MRI), electroencephalogram (EEG), seizure frequency and somato-sensory evoked potentials (SSEP).
|
4 |
Male |
Child, Adult, Senior |
NCT01391637 |
CL-N02-PMD |
|
June 2011 |
March 2016 |
March 2016 |
July 12, 2011 |
May 13, 2016 |
|
- UCSF Medical Center
San Francisco, California, United States
|
14 |
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
|
15 |
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, Senior) |
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
|
16 |
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 |
|
|
17 |
NCT01005004 |
Completed |
Study of Human Central Nervous System (CNS) Stem Cells Transplantation in Pelizaeus-Merzbacher Disease (PMD) Subjects |
- Pelizaeus-Merzbacher Disease
|
- Biological: HuCNS-SC cells
|
Interventional |
Phase 1 |
|
Industry |
- Intervention Model: Single Group Assignment
- Masking: None (Open Label)
|
- Safety assessment through clinical neurological and MRI evaluation.
- MRI examination for post-transplant myelination
|
4 |
Male |
6 Months to 5 Years (Child) |
NCT01005004 |
CL-N01-PMD |
|
November 2009 |
October 2012 |
December 2012 |
October 30, 2009 |
January 15, 2015 |
|
- University of California, San Francisco
San Francisco, California, United States
|
18 |
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
|
19 |
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
|
20 |
NCT00724802 |
Unknown † |
Oral Glyceryl Triacetate (GTA) in Newborns With Canavan |
|
- Dietary Supplement: GTA (Glyceryl triacetate)
- Drug: GTA glyceryl triacetate
|
Interventional |
Not Applicable |
- Shaare Zedek Medical Center
|
Other |
- Intervention Model: Single Group Assignment
- Masking: None (Open Label)
- Primary Purpose: Treatment
|
- brain MRI at the end of the study
|
1 |
All |
up to 18 Months (Child) |
NCT00724802 |
canavangta |
|
March 2008 |
August 2008 |
|
July 30, 2008 |
June 21, 2011 |
|
- Shaare Zedek Medical Center
Jerusalem, Israel
|
21 |
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
|
22 |
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
|
23 |
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
|
24 |
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
|
25 |
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
|
26 |
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, Senior |
NCT03392987 |
205756 |
|
December 15, 2017 |
August 22, 2022 |
August 23, 2028 |
January 8, 2018 |
January 8, 2018 |
|
- GSK Investigational Site
Milan, Italy
|
27 |
NCT03231878 |
Not yet recruiting |
A Clinical Study to Evaluate the Efficacy and Safety of MIN-102 (IMP) in Male AMN Patients. |
|
- Drug: MIN-102
- Drug: Placebos
|
Interventional |
Phase 2 Phase 3 |
- Minoryx Therapeutics, S.L.
|
Industry |
- Allocation: Randomized
- Intervention Model: Parallel Assignment
- Masking: Triple (Participant, Care Provider, Investigator)
- Primary Purpose: Treatment
|
- To evaluate the efficacy of MIN-102 on the progression of adrenomyeloneuropathy (AMN) in male patients as determined by a motor function test.
- To evaluate the efficacy of MIN-102 in terms of patient reported outcomes.
- SSPROM (Severity Score System for Progressive Myelopathy )
- (and 2 more...)
|
105 |
Male |
18 Years to 65 Years (Adult) |
NCT03231878 |
MT-2-01 |
Advance |
October 2017 |
October 2020 |
October 2020 |
July 27, 2017 |
August 1, 2017 |
|
|
28 |
NCT03196765 |
Not yet recruiting |
Safety, Pharmacokinetics and Pharmacodynamics of NV1205 in Pediatric Male Subjects With Adrenoleukodystrophy |
- X-Linked Adrenoleukodystrophy
|
- Drug: Sobetirome (NV1205)
|
Interventional |
Phase 1 Phase 2 |
|
Industry |
- Intervention Model: Sequential Assignment
- Masking: None (Open Label)
- Primary Purpose: Treatment
|
- Number of participants with treatment-related adverse events as assessed by CTCAE v4.0
- Area under the curve concentration of NV1205 in plasma
|
25 |
Male |
4 Years to 18 Years (Child, Adult) |
NCT03196765 |
NV1205-009 |
|
March 1, 2018 |
December 1, 2020 |
December 1, 2020 |
June 23, 2017 |
March 2, 2018 |
|
- Hospital Austral
Buenos Aires, Argentina - Hospital General de ninos Pedro de Elizalde
Buenos Aires, Argentina - Monash Health
Clayton, Victoria, Australia - (and 10 more...)
|
29 |
NCT03367546 |
Not yet recruiting |
Haploidentical Allogeneic Hematopoietic Stem Cell Transplantation (HaploHCT) Following Reduced Intensity Conditioning (RIC) for Selected High Risk Non-Malignant Diseases |
- Sickle Cell Disease
- Thalassemia
- High Risk Hematologic Disorders
- (and 2 more...)
|
- Procedure: Blood and Marrow Transplant
|
Interventional |
Phase 2 |
- Masonic Cancer Center, University of Minnesota
|
Other |
- Intervention Model: Single Group Assignment
- Masking: None (Open Label)
- Primary Purpose: Treatment
|
- Neutrophil Recovery
- Overall Survival (OS)
- Primary Graft Failure (neutropenic and non-neutropenic)
|
20 |
All |
up to 25 Years (Child, Adult) |
NCT03367546 |
2017LS101 MT2017-30 |
|
April 2018 |
November 2024 |
November 2024 |
December 8, 2017 |
April 9, 2018 |
|
|
30 |
NCT02961803 |
Completed |
MD1003-AMN MD1003 in Adrenomyeloneuropathy |
- Adrenomyeloneuropathy
- Adrenoleukodystrophy
- AMN
|
- Drug: MD1003 100 mg capsule
- Drug: Placebo
|
Interventional |
Phase 2 Phase 3 |
- MedDay Pharmaceuticals SA
|
Industry |
- Allocation: Randomized
- Intervention Model: Parallel Assignment
- Masking: Quadruple (Participant, Care Provider, Investigator, Outcomes Assessor)
- Primary Purpose: Treatment
|
- Mean change of 2 minutes walking test (2MWT) between Months 12 and baseline
- Proportion of patients with improved 2-Minutes-Walk-Tests (2MWT) of at least 20%
- Proportion of patients with improved TW25 (time to walk 25 feet) of at least 20%
- (and 4 more...)
|
67 |
Male |
18 Years to 60 Years (Adult) |
NCT02961803 |
MD1003CT2014-01AMN |
|
October 2014 |
June 2016 |
June 2017 |
November 11, 2016 |
October 9, 2017 |
|
- Hôpital Bicêtre
Le Kremlin Bicêtre, France - Groupe Hospitalier Pitié-Salpêtrière
Paris, France - MS-Ambulanz Fachkrankenhaus Hubertusburg
Wermsdorf, Germany - Hospital Duran i Reynals / Bellvitge
Barcelona, Spain
|
31 |
NCT02952482 |
Recruiting |
Newborn Screening for Adrenoleukodystrophy |
|
- Procedure: newborns testing for ALD
|
Observational |
|
- National Taiwan University Hospital
|
Other |
- Observational Model: Cohort
- Time Perspective: Prospective
|
- numbers of newborn with ALD
|
60000 |
All |
up to 3 Months (Child) |
NCT02952482 |
201603025RIND |
|
November 2016 |
November 2017 |
June 2018 |
November 2, 2016 |
January 6, 2017 |
|
- National Taiwan University Hospital
Taipei, Taiwan
|
32 |
NCT02948062 |
Not yet recruiting |
Early Diagnosis Of Childhood Cerebral ALD |
|
|
Observational |
|
- Masonic Cancer Center, University of Minnesota
|
Other |
- Observational Model: Cohort
- Time Perspective: Prospective
|
- ALD Early Evaluation
- Emergence of cerebral disease through imaging
- Biomarker Study: Inflammation Markers
- (and 3 more...)
|
100 |
Male |
1 Year to 5 Years (Child) |
NCT02948062 |
2016NTLS155 MT2016-29R |
|
November 2018 |
July 2023 |
July 2023 |
October 28, 2016 |
January 23, 2018 |
|
- Masonic Cancer Center, University of Minnesota
Minneapolis, Minnesota, United States
|
33 |
NCT03278899 |
Recruiting |
A Study to Prospectively Assess Disease Progression in Male Children With X-ALD |
- X-Linked Adrenoleukodystrophy
|
|
Observational |
|
|
Industry |
- Observational Model: Cohort
- Time Perspective: Prospective
|
- Loes score
- Plasma VLCFA levels
- Neurological symptoms
|
100 |
Male |
2 Years to 13 Years (Child) |
NCT03278899 |
NV1205-008 |
|
February 16, 2018 |
June 1, 2021 |
June 1, 2021 |
September 12, 2017 |
February 19, 2018 |
|
- University of Pittsburgh
Pittsburgh, Pennsylvania, United States
|
34 |
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, Senior |
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
|
35 |
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 |
|
|
36 |
NCT02698579 |
Enrolling by invitation |
Long-term Follow-up of Subjects With Cerebral Adrenoleukodystrophy Who Were Treated With Lenti-D Drug Product |
- Cerebral Adrenoleukodystrophy (CALD)
- Adrenoleukodystrophy (ALD)
- X-Linked Adrenoleukodystrophy (X-ALD)
|
- Other: Safety and efficacy assessments
|
Observational |
|
|
Industry |
- Observational Model: Case-Only
- Time Perspective: Prospective
|
- Overall survival of subjects with cerebral adrenoleukodystrophy (CALD) treated with Lenti-D Drug Product
- Proportion of subjects who experience new, persistent or worsening chronic GVHD
- Proportion of subjects who undergo subsequent stem cell transplantation
- (and 9 more...)
|
25 |
Male |
Child, Adult, Senior |
NCT02698579 |
LTF-304 |
|
January 2016 |
November 2033 |
November 2033 |
March 3, 2016 |
February 2, 2018 |
|
- Mattel Children's Hospital-UCLA
Los Angeles, California, United States - Boston Children's Hospital/Massachusetts General Hospital
Boston, Massachusetts, United States - Fundación Investigar
Buenos Aires, Argentina - (and 3 more...)
|
37 |
NCT02595489 |
Recruiting |
A Pilot Study of Vitamin D in Boys With X-linked Adrenoleukodystrophy |
- X-linked Adrenoleukodystrophy
|
- Dietary Supplement: vitamin D3
|
Interventional |
Phase 1 Phase 2 |
- Stanford University
- National Institute of Neurological Disorders and Stroke (NINDS)
- University of Minnesota - Clinical and Translational Science Institute
- ALD Connect, Inc.
|
Other / NIH / Industry |
- Intervention Model: Single Group Assignment
- Masking: None (Open Label)
- Primary Purpose: Prevention
|
- Percent of patients with a plasma 25-OH vitamin D level in the target range (40-80ng/ml) at 12 months
- Percent of patients with a plasma 25-OH vitamin D level in the target range (40-80ng/ml) at 6 months
- Correlation between appearance of gadolinium enhancing brain lesion on MRI and most recent plasma 25-OH vitamin D level
- (and 8 more...)
|
20 |
Male |
3 Years to 12 Years (Child) |
NCT02595489 |
23596 K23NS087151 |
|
March 2016 |
March 2019 |
March 2019 |
November 3, 2015 |
October 13, 2016 |
|
- Stanford University
Palo Alto, California, United States
|
38 |
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
|
39 |
NCT02410239 |
Withdrawn |
MT2014-14 IT-MSC for Advanced Cerebral Adrenoleukodystrophy (cALD) |
- Cerebral Adrenoleukodystrophy
|
- Biological: Mesenchymal Stem Cells
|
Interventional |
Phase 1 |
- Masonic Cancer Center, University of Minnesota
|
Other |
- Intervention Model: Single Group Assignment
- Masking: None (Open Label)
- Primary Purpose: Treatment
|
- Maximum Tolerated Dose
- Radiographic Response
|
0 |
All |
4 Years and older (Child, Adult, Senior) |
NCT02410239 |
2014LS018 |
|
June 2015 |
July 2017 |
July 2022 |
April 7, 2015 |
December 2, 2017 |
|
|
40 |
NCT02233257 |
No longer available |
Expanded Access for Lorenzo's Oil (GTO/GTE) in Adrenoleukodystrophy |
- X-linked Adrenoleukodystrophy
|
|
Expanded Access |
|
- University of Minnesota - Clinical and Translational Science Institute
|
Other |
|
|
|
Male |
18 Months to 18 Years (Child, Adult) |
NCT02233257 |
1401M47561 |
|
|
|
|
September 8, 2014 |
January 23, 2018 |
|
- University of Minnesota Medical Center
Minneapolis, Minnesota, United States
|
41 |
NCT02204904 |
Recruiting |
Observational Study to Evaluate Allogeneic HSCT Outcomes for Cerebral Adrenoleukodystrophy (CALD) |
- X-Linked Adrenoleukodystrophy (X-ALD)
- Cerebral Adrenoleukodystrophy (CALD)
- Adrenoleukodystrophy (ALD)
|
|
Observational |
|
|
Industry |
- Observational Model: Cohort
- Time Perspective: Other
|
- Incidence of transplant-related mortality (TRM).
- Incidence and timing of neutrophil engraftment.
- Incidence of engraftment failure or allograft rejection.
- (and 14 more...)
|
60 |
Male |
up to 17 Years (Child) |
NCT02204904 |
ALD-103 |
|
December 2014 |
May 2021 |
May 2021 |
July 31, 2014 |
January 19, 2018 |
|
- Children's Hospital Los Angeles
Los Angeles, California, United States - Stanford University
Palo Alto, California, United States - Boston Children's Hospital/Massachusetts General Hospital
Boston, Massachusetts, United States - (and 8 more...)
|
42 |
NCT00278707 |
Unknown † |
GTA-Glyceryltriacetate for Canavan Disease |
- Infantile Canavan Disease
- Deficiency Disease, Aspartoacylase
|
- Drug: GTA: Glyceryltriacetate
|
Interventional |
Phase 1 |
|
Other |
- Allocation: Non-Randomized
- Intervention Model: Single Group Assignment
- Masking: None (Open Label)
- Primary Purpose: Treatment
|
- All primary outcome will be evaluated 4 months following the initiation of treatment:
- Neurological Status
- Brain Imaging: MRI & MRS
- (and 2 more...)
|
5 |
All |
up to 15 Months (Child) |
NCT00278707 |
SHEBA-05-3968-YA-CTIL |
|
January 2006 |
|
July 2006 |
January 18, 2006 |
August 15, 2006 |
|
- Dr. Y. Anikster
Tel Aviv, Israel
|
43 |
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
|
44 |
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
|
45 |
NCT01896102 |
Recruiting |
A Phase 2/3 Study of the Efficacy and Safety of Hematopoietic Stem Cells Transduced With Lenti-D Lentiviral Vector for the Treatment of Cerebral Adrenoleukodystrophy (CALD) |
- Cerebral Adrenoleukodystrophy (CALD)
|
- Genetic: Lenti-D Drug Product
|
Interventional |
Phase 2 Phase 3 |
|
Industry |
- Intervention Model: Single Group Assignment
- Masking: None (Open Label)
- Primary Purpose: Treatment
|
- Proportion of subjects who are alive and have none of the 6 major functional disabilities (MFDs) at Month 24 (i.e. Month 24 MFD-free survival).
- The proportion of subjects who experience either acute (≥Grade II) or chronic graft versus host disease (GVHD) at Month 24.
- Incidence of resolution of gadolinium positivity on MRI (i.e., GdE-).
- (and 4 more...)
|
30 |
Male |
up to 17 Years (Child) |
NCT01896102 |
ALD-102 |
|
August 2013 |
August 2019 |
December 2021 |
July 11, 2013 |
January 10, 2018 |
|
- Mattel Children's Hospital UCLA/Ronald Reagan UCLA Medical Center
Los Angeles, California, United States - Boston Children's Hospital/Massachusetts General Hospital
Boston, Massachusetts, United States - University of Minnesota
Minneapolis, Minnesota, United States - (and 2 more...)
|
46 |
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, Senior) |
NCT02084121 |
ICT-13080-Compassionate Use |
|
|
|
|
March 11, 2014 |
April 20, 2018 |
|
- Duke University
Durham, North Carolina, United States
|
47 |
NCT01787578 |
Withdrawn |
Safety and Pharmacodynamic Study of Sobetirome in X-Linked Adrenoleukodystrophy (X-ALD) |
- X-Linked Adrenoleukodystrophy
- Adrenomyeloneuropathy
|
|
Interventional |
Phase 1 |
- Thomas S. Scanlan
- Oregon Health and Science University
|
Other |
- Intervention Model: Single Group Assignment
- Masking: None (Open Label)
- Primary Purpose: Treatment
|
- Change from Baseline in very long chain fatty acid (VLCFA) levels
- Evidence of changes in thyroid function from baseline confirmed by measured changes in TSH and/or free T4
- Number of participants with adverse events from baseline
- Peak Plasma Concentration (Cmax) of Sobetirome
|
0 |
Male |
18 Years to 64 Years (Adult) |
NCT01787578 |
Sobetirome-CLIN-006 CTSA grant (UL1TR000128) |
|
April 2013 |
September 2013 |
February 2014 |
February 8, 2013 |
February 14, 2014 |
|
- Oregon Health & Science University
Portland, Oregon, United States
|
48 |
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
|
49 |
NCT01999257 |
Completed |
Efficacy Study of an Online Educational Module Before Carrier Genetic Screening in Persons of Ashkenazi Jewish Descent. |
- Tay Sachs Disease
- Canavan Disease
- Familial Dysautonomia
|
- Other: Online pre-test genetic education tool
|
Interventional |
Not Applicable |
- McGill University Health Center
|
Other |
- Allocation: Randomized
- Intervention Model: Parallel Assignment
- Masking: None (Open Label)
- Primary Purpose: Health Services Research
|
- Knowledge of Ashkenazi Jewish genetic conditions
- Patient anxiety
- Satisfaction with web-based/in-person genetic counselling
- Perceived risk of having a child with an Ashkenazi Jewish genetic condition
|
60 |
All |
18 Years and older (Adult, Senior) |
NCT01999257 |
3281 |
|
July 2014 |
April 2015 |
August 2017 |
December 3, 2013 |
August 17, 2017 |
|
- Montreal General Hospital (MUHC)
Montreal, Quebec, Canada
|
50 |
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
|