| 1 |
NCT02788734 |
Completed |
Patient Reported Outcomes Measures (PROM) in Carpal Tunnel Therapies in Patients With Inherited Neuropathies |
- Carpal Tunnel Syndrome
- Charcot-Marie-Tooth Disease
- Inherited Peripheral Neuropathy
|
|
Observational
|
|
- University of South Florida
- National Institute of Neurological Disorders and Stroke (NINDS)
- University of Rochester
- University of Iowa
|
Other / NIH |
- Observational Model: Cohort
- Time Perspective: Prospective
|
- Boston Carpal Tunnel Syndrome Questionnaire (BCTQ)
- The Disability of Arm, Shoulder and Hand (DASH) questionnaire
|
333 |
All |
18 Years and older (Adult, Older Adult) |
NCT02788734 |
INC6612
U01TR001263 |
|
June 2016 |
November 19, 2016 |
November 19, 2016 |
June 2, 2016 |
March 15, 2018 |
|
- University of South Florida Health Informatics Institute
Tampa, Florida, United States
|
|
| 2 |
NCT02429947 |
Completed |
An Analysis of the Symptomatic Domains Most Relevant to Charcot Marie Tooth Neuropathy (CMT) Patients |
- Charcot Marie Tooth Disease (CMT)
- Hereditary Sensory and Motor Neuropathy
- Nerve Compression Syndromes
- (and 4 more...)
|
|
Observational
|
|
- University of South Florida
- University of Rochester
- National Institute of Neurological Disorders and Stroke (NINDS)
|
Other / NIH |
- Observational Model: Cohort
- Time Perspective: Cross-Sectional
|
- Percentage of participants affected by specific symptoms of CMT.
- Severity of impact of each identified symptom of CMT
|
411 |
All |
18 Years and older (Adult, Older Adult) |
NCT02429947 |
INC6606
5U54NS064808-07 |
|
July 2012 |
June 2013 |
June 2013 |
April 29, 2015 |
June 14, 2017 |
|
- RDCRN Data Management and Coordinating Center , Epidemiology Center; University of South Florida
Tampa, Florida, United States
|
|
| 3 |
NCT03278093 |
Recruiting |
Effect of Orthoses and Underfoot Vibration on Balance in Neuropathy |
- CMT - Charcot-Marie-Tooth Disease
- Peripheral Neuropathy
- Hereditary Peripheral Neuropathy
- CMT1A
|
|
Observational
|
|
- St George's, University of London
- University College London Hospitals
|
Other |
- Observational Model: Cohort
- Time Perspective: Cross-Sectional
|
- Posturography
- force measures
|
15 |
All |
18 Years and older (Adult, Older Adult) |
NCT03278093 |
16.0029 |
|
October 20, 2017 |
July 20, 2018 |
July 20, 2018 |
September 11, 2017 |
March 21, 2018 |
|
- National Hopsital of Neurology and Neurosurgery
London, United Kingdom
|
|
| 4 |
NCT01733407 |
Completed |
L-Serine Supplementation in Hereditary Sensory Neuropathy Type 1 |
- Hereditary Sensory and Autonomic Neuropathy Type I
|
- Drug: L-serine
- Drug: placebo
|
Interventional
|
Phase 1
Phase 2 |
- Massachusetts General Hospital
|
Other |
- Allocation: Randomized
- Intervention Model: Single Group Assignment
- Masking: Quadruple (Participant, Care Provider, Investigator, Outcomes Assessor)
- Primary Purpose: Treatment
|
- Charcot Marie Tooth Neuropathy Score
- Measures of intraepidermal nerve fiber density (IENFD) on skin biopsy
- Measures of sensory and autonomic testing
- plasma measures of desoxysphingoid bases
|
18 |
All |
18 Years and older (Adult, Older Adult) |
NCT01733407 |
FD-R-04127-01 |
|
September 2013 |
May 2017 |
July 2017 |
November 27, 2012 |
July 14, 2017 |
|
- Massachusetts General Hospital
Boston, Massachusetts, United States - UMass Medical Center
Worcester, Massachusetts, United States
|
|
| 5 |
NCT02194010 |
Recruiting |
Disability Severity Scale (DSI) and Hereditary Motor and Sensory Neuropathy Overall Disability Scale (HMSN-R-ODS) |
- Charcot Marie Tooth Disease
- Inherited Peripheral Neuropathy
|
|
Observational
|
|
- University of Iowa
- National Institute of Neurological Disorders and Stroke (NINDS)
- Charcot-Marie-Tooth Association
- (and 3 more...)
|
Other / NIH |
- Observational Model: Cohort
- Time Perspective: Prospective
|
- Disability Severity Index
- Hereditary Motor and Sensory Neuropathy Overall Disability Scale (HMSN-R-ODS)
|
415 |
All |
10 Years and older (Child, Adult, Older Adult) |
NCT02194010 |
INC 6610
U54NS065712 |
DSI and HMSN |
April 2014 |
December 2018 |
December 2018 |
July 18, 2014 |
October 5, 2017 |
|
- University of Iowa
Iowa City, Iowa, United States - University of Rochester Medical Center
Rochester, New York, United States - National Hospital of Neurology and Neurosurgery
London, United Kingdom
|
|
| 6 |
NCT01401257 |
Completed
Has Results |
Phase II, Randomized, Placebo-controlled Trial in Patients With Charcot-marie-tooth Disease Type 1A |
- Charcot-Marie-Tooth Disease
- Hereditary Neuropathy With Liability to Pressure Palsies
- Genetic Disorders
|
- Drug: PXT3003 Low dose
- Drug: PXT3003 Intermediate Dose
- Drug: PXT3003 High Dose
- Other: Placebo
|
Interventional
|
Phase 2 |
|
Other |
- Allocation: Randomized
- Intervention Model: Parallel Assignment
- Masking: Quadruple (Participant, Care Provider, Investigator, Outcomes Assessor)
- Primary Purpose: Treatment
|
- Safety and Tolerability of PXT3003
- To Obtain Preliminary Data on the Efficacy of PXT3003 on Clinical Scores and Functional Tests
- To Assess the Pharmacodynamic Effect of PXT3003 on PMP22 mRNA Levels and Intra-epidermal Axon Density in Cutaneous Biopsy
- (and 3 more...)
|
80 |
All |
18 Years to 65 Years (Adult, Older Adult) |
NCT01401257 |
CLN-PXT3003-01 |
|
December 2010 |
October 2011 |
December 2012 |
July 25, 2011 |
November 22, 2017 |
February 16, 2017 |
- Hôpital Roger Salengro
Lille, France - CHU Dupuytren
Limoges, France - CHU Lyon Sud
Lyon, France - (and 3 more...)
|
|
| 7 |
NCT02001038 |
Completed |
Survey of Current Management of Orthopaedic Complications in CMT Patients |
- Charcot-Marie-Tooth Disease
|
|
Observational
|
|
- University College London Hospitals
- National Hospital for Neurology and Neurosurgery, London
- University of Iowa Health Care
- (and 13 more...)
|
Other / NIH |
- Observational Model: Case-Only
|
- Procedural correlations among orthopaedic surgeons on management of foot deformities in CMT patients
|
16 |
All |
Child, Adult, Older Adult |
NCT02001038 |
INC 6608 |
|
February 2013 |
November 2014 |
November 2014 |
December 4, 2013 |
January 30, 2015 |
|
- National Hospital for Neurology and Neurosurgery
London, United Kingdom
|
|
| 8 |
NCT02982343 |
Completed |
BALTiC Study: A Feasibility Analysis of Home Based BALance Training in People With Charcot-Marie-Tooth Disease |
- Charcot-Marie-Tooth Disease, Type IA
|
- Behavioral: Falls management plus exercise training
- Behavioral: Falls management only
|
Interventional
|
Not Applicable |
- University College London Hospitals
- Charcot Marie Tooth United Kingdom
- Kingston University
|
Other |
- Allocation: Randomized
- Intervention Model: Parallel Assignment
- Masking: Single (Investigator)
- Primary Purpose: Treatment
|
- Balance performance
- Recruitment rate
- Falls monitoring
- (and 11 more...)
|
16 |
All |
18 Years and older (Adult, Older Adult) |
NCT02982343 |
16/LO/0720 |
BALTiC |
December 2016 |
March 2017 |
March 2018 |
December 5, 2016 |
May 3, 2018 |
|
- National Hospital for Neurology and Neurosurgery, UCLH
London, United Kingdom
|
|
| 9 |
NCT03550300 |
Not yet recruiting
New |
Muscle MRI in Charcot Mary Tooth Disease: a Prospective Cohort Study |
- Charcot-Marie-Tooth Disease, Type IA
- Charcot-Marie-Tooth Disease Type 2A
- Charcot-Marie-Tooth Disease, Type IB
- Charcot-Marie-Tooth Disease, Type X
|
|
Observational
|
|
- University College, London
- University of Iowa
|
Other |
- Observational Model: Cohort
- Time Perspective: Prospective
|
- MRI Change in fat accumulation in CMT1A
- MRI Change in fat accumulation in CMT1B; CMT2A and CMTX1
- MRI changes validation - CMTPedS
- (and 4 more...)
|
130 |
All |
5 Years to 60 Years (Child, Adult) |
NCT03550300 |
18/0244 |
|
July 1, 2018 |
July 1, 2021 |
October 1, 2021 |
June 8, 2018 |
June 8, 2018 |
|
|
|
| 10 |
NCT01568658 |
Recruiting |
Genetic and Physical Study of Childhood Nerve and Muscle Disorders |
- Muscular Dystrophies
- Muscle Myopathies
- Hereditary Spastic Paraplegias
- (and 2 more...)
|
|
Observational
|
|
- National Institute of Neurological Disorders and Stroke (NINDS)
- National Institutes of Health Clinical Center (CC)
|
NIH |
- Time Perspective: Prospective
|
|
5650 |
All |
Child, Adult, Older Adult |
NCT01568658 |
120095
12-N-0095 |
|
March 14, 2012 |
|
|
April 2, 2012 |
May 9, 2018 |
|
- National Institutes of Health Clinical Center, 9000 Rockville Pike
Bethesda, Maryland, United States
|
|
| 11 |
NCT01900132 |
Recruiting |
Electrical Impedance Myography: Exploratory Studies in Healthy People and People With Neuromuscular Disorders |
- Neuromuscular Disease
- Motor Neuron Disease
- Inherited Neuromuscular Conditions
- Inherited Neuropathies
|
|
Observational
|
|
- National Institute of Neurological Disorders and Stroke (NINDS)
- National Institutes of Health Clinical Center (CC)
|
NIH |
- Observational Model: Case-Only
- Time Perspective: Prospective
|
- Normative values for EIM in healthy volunteers. In subjects with neuromuscular disorders, we would be mainly doing explorational studies to better understand the use of EIM in disease.
|
250 |
All |
2 Years and older (Child, Adult, Older Adult) |
NCT01900132 |
130165
13-N-0165 |
|
July 11, 2013 |
April 1, 2019 |
April 1, 2019 |
July 16, 2013 |
June 4, 2018 |
|
- National Institutes of Health Clinical Center, 9000 Rockville Pike
Bethesda, Maryland, United States
|
|
| 12 |
NCT01455623 |
Completed |
Development and Validation of a Disability Severity Index for CMT |
- Charcot Marie Tooth Disease
|
|
Observational
|
|
- University of Iowa
- National Institute of Neurological Disorders and Stroke (NINDS)
- Muscular Dystrophy Association
|
Other / NIH |
- Observational Model: Cohort
- Time Perspective: Prospective
|
- Compare Patient and Healthcare Provider impressions of what constitutes mild, moderate and severe impairment in CMT
- Develop a Disability Severity Index including items with high patient-physician concordance
|
291 |
All |
8 Years and older (Child, Adult, Older Adult) |
NCT01455623 |
INC-6604 |
6604 |
June 2011 |
March 2014 |
March 2014 |
October 20, 2011 |
March 26, 2014 |
|
- University of Iowa
Iowa City, Iowa, United States
|
|
| 13 |
NCT01267422 |
Completed
Has Results |
Safety and Efficacy Study of rAAV2-ND4 Treatment of Leber Hereditary Optic Neuropathy (LHON) |
- Leber Hereditary Optic Neuropathy
|
|
Interventional
|
Not Applicable |
- Bin Li
- Huazhong University of Science and Technology
|
Other |
- Intervention Model: Single Group Assignment
- Masking: None (Open Label)
- Primary Purpose: Treatment
|
- The Best Corrected Visual Acuity(BCVA)
- Results of CD3/CD4/CD8 Test
- Intraocular Pressure;
- (and 4 more...)
|
9 |
All |
8 Years to 60 Years (Child, Adult) |
NCT01267422 |
RAVCT-2 |
rAAV2-ND4 |
April 2011 |
November 2015 |
November 2015 |
December 28, 2010 |
January 31, 2018 |
May 2, 2016 |
- Department of Ophthalmology ，Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology
Wuhan, Hubei, China
|
|
| 14 |
NCT00747487 |
Completed |
Study to Assess Efficacy,Safety and Tolerability of Idebenone in the Treatment of Leber's Hereditary Optic Neuropathy |
- Leber's Hereditary Optic Neuropathy
|
- Drug: Idebenone
- Drug: Placebo
|
Interventional
|
Phase 2 |
|
Industry |
- Allocation: Randomized
- Intervention Model: Parallel Assignment
- Masking: Quadruple (Participant, Care Provider, Investigator, Outcomes Assessor)
- Primary Purpose: Treatment
|
- Best recovery of logMAR visual acuity between baseline and Week 24 in either right or left eye
- Change in the patient's best logMAR visual acuity between baseline and week 24
- Change in scotoma area in both eyes
- (and 10 more...)
|
85 |
All |
14 Years to 65 Years (Child, Adult, Older Adult) |
NCT00747487 |
SNT-II-003 |
RHODOS |
November 2007 |
February 2010 |
February 2010 |
September 5, 2008 |
May 27, 2013 |
|
- Unité de recherche clinique Ophtalmologie- Hopital Notre-Dame
Montreal, Quebec, Canada - Klinikum der Universität München - Grosshadern, Neurologische Klinik und Poliklinik
Munich, Germany - Clinical Research Facility, 4th Floor Leazes Wing, Royal Victoria Infirmary
Newcastle Upon Tyne, United Kingdom
|
|
| 15 |
NCT03153293 |
Active, not recruiting |
Safety and Efficacy Study of Gene Therapy for The Treatment of Leber's Hereditary Optic Neuropathy |
- Leber Hereditary Optic Neuropathy
|
|
Interventional
|
Phase 2
Phase 3 |
- Huazhong University of Science and Technology
- Shiyan Taihe Hospital
|
Other |
- Intervention Model: Single Group Assignment
- Masking: None (Open Label)
- Primary Purpose: Treatment
|
- BCVA
- Computerized Visual Field
- VEP
- (and 3 more...)
|
40 |
All |
10 Years to 65 Years (Child, Adult, Older Adult) |
NCT03153293 |
Leber 2 |
|
December 27, 2017 |
June 30, 2019 |
June 30, 2019 |
May 15, 2017 |
May 1, 2018 |
|
- Department of Ophthalmology，Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology
Wuhan, Hubei, China
|
|
| 16 |
NCT02064569 |
Active, not recruiting |
Safety Evaluation of Gene Therapy in Leber Hereditary Optic Neuropathy (LHON) Patients |
- Leber Hereditary Optic Neuropathy
|
|
Interventional
|
Phase 1
Phase 2 |
|
Industry |
- Intervention Model: Single Group Assignment
- Masking: None (Open Label)
- Primary Purpose: Treatment
|
- Incidence of local and general adverse events and Serious Adverse Events
|
21 |
All |
18 Years and older (Adult, Older Adult) |
NCT02064569 |
GS-LHON/CLIN/01 |
|
February 2014 |
June 2020 |
June 2020 |
February 17, 2014 |
April 6, 2018 |
|
- CIC du CHNO DES QUINZE-VINGTS
Paris, France
|
|
| 17 |
NCT01389817 |
Terminated
Has Results |
Near-infrared Light-emitting Diode (NIR-LED) Therapy for Leber's Hereditary Optic Neuropathy (LHON) |
- Leber's Hereditary Optic Neuropathy (LHON)
|
- Device: Near-infrared light-emitting diode (NIR-LED) therapy (Med Light 630 PRO (Medical Devices Inc.))
|
Interventional
|
Phase 1
Phase 2 |
- Medical College of Wisconsin
|
Other |
- Allocation: Non-Randomized
- Intervention Model: Parallel Assignment
- Masking: None (Open Label)
- Primary Purpose: Treatment
|
- N95 Peak Via pERG and fERG -PhNR
|
4 |
All |
18 Years and older (Adult, Older Adult) |
NCT01389817 |
PRO14842 |
LHON |
July 2011 |
May 2013 |
May 2013 |
July 8, 2011 |
September 29, 2014 |
September 29, 2014 |
- Froedtert Memorial Lutheran Hospital
Milwaukee, Wisconsin, United States - Medical College of Wisconsin
Milwaukee, Wisconsin, United States - The Eye Institute
Milwaukee, Wisconsin, United States
|
|
| 18 |
NCT02876939 |
Enrolling by invitation |
Proprioception and Sensorimotor Control in Hereditary Sensory and Autonomic Neuropathy |
|
- Other: kinesiology tape around the hip, knee and ankle joints
- Other: No kinesiology tape around the hip, knee and ankle joints
|
Interventional
|
Not Applicable |
- New York University School of Medicine
|
Other |
- Allocation: Randomized
- Intervention Model: Parallel Assignment
- Masking: None (Open Label)
- Primary Purpose: Basic Science
|
- Measurement of gait in HSAN III
|
30 |
All |
16 Years to 40 Years (Child, Adult) |
NCT02876939 |
16-00530 |
|
November 2016 |
April 19, 2019 |
April 19, 2019 |
August 24, 2016 |
June 6, 2018 |
|
- New York University School of Medicine
New York, New York, United States
|
|
| 19 |
NCT02300753 |
No longer available |
Emergency Administration of EPI-743 to a Single Patient With Leber's Hereditary Optic Neuropathy [LHON] |
- Leber's Hereditary Optic Neuropathy
|
|
Expanded Access
|
|
- Edison Pharmaceuticals Inc
|
Industry |
|
|
|
All |
8 Years to 65 Years (Child, Adult, Older Adult) |
NCT02300753 |
EPI-2010-004 |
|
|
|
|
November 25, 2014 |
November 25, 2014 |
|
- Doheny Eye Institute / UCLA
Los Angeles, California, United States
|
|
| 20 |
NCT02796274 |
Recruiting |
Historical Case Record Survey of Visual Acuity Data From Patients With Leber's Hereditary Optic Neuropathy (LHON) |
- Leber's Hereditary Optic Neuropathy (LHON)
|
|
Observational
|
|
|
Industry |
- Observational Model: Case-Only
- Time Perspective: Retrospective
|
- Proportion of eyes with clinically relevant recovery or clinically relevant stabilization of VA
|
100 |
All |
12 Years and older (Child, Adult, Older Adult) |
NCT02796274 |
SNT-CRS-002 |
|
May 2016 |
April 2017 |
|
June 10, 2016 |
March 3, 2017 |
|
- CHU Saint-Pierre
Brussels, Belgium - Cliniques Universitaire Saint-Luc
Brussel, Belgium - Universitair Ziekenhuis Gent
Gent, Belgium - (and 18 more...)
|
|
| 21 |
NCT02161380 |
Recruiting |
Safety Study of an Adeno-associated Virus Vector for Gene Therapy of Leber's Hereditary Optic Neuropathy |
- Leber's Hereditary Optic Neuropathy
|
- Drug: injection of scAAV2-P1ND4v2 5.00x10e9 vg (Low),
- Drug: injection of scAAV2-P1ND4v2 2.46X10e10 vg (Med)
- Drug: injection of scAAV2-P1ND4v2 1.0X10e11vg (High)
|
Interventional
|
Phase 1 |
- John Guy
- National Eye Institute (NEI)
- University of Miami
|
Other / NIH |
- Allocation: Non-Randomized
- Intervention Model: Parallel Assignment
- Masking: None (Open Label)
- Primary Purpose: Treatment
|
- Assessment of Primary Endpoint - Toxicity
|
27 |
All |
15 Years and older (Child, Adult, Older Adult) |
NCT02161380 |
20140248
1U10EY023558-01A1 |
LHON |
July 2014 |
March 2019 |
March 2019 |
June 11, 2014 |
January 25, 2018 |
|
- Bascom Palmer Eye Institute, University of Miami
Miami, Florida, United States
|
|
| 22 |
NCT02693119 |
Active, not recruiting |
A Study Investigating the Safety, Tolerability, and Efficacy of Elamipretide (MTP-131) Topical Ophthalmic Solution for the Treatment of Leber's Hereditary Optic Neuropathy |
- Leber's Hereditary Optic Neuropathy
|
- Drug: elamipretide (MTP-131) 1% topical ophthalmic solution
- Drug: Vehicle topical ophthalmic solution
|
Interventional
|
Phase 2 |
- Stealth BioTherapeutics Inc.
|
Industry |
- Allocation: Randomized
- Intervention Model: Parallel Assignment
- Masking: Quadruple (Participant, Care Provider, Investigator, Outcomes Assessor)
- Primary Purpose: Treatment
|
- Incidence and severity of adverse events
- Change in photopic negative response electroretinography (PhNR-ERG) response pattern
- Change in visual field MD as measured by Humphrey automated visual field testing stimulus III
- (and 5 more...)
|
12 |
All |
18 Years to 50 Years (Adult) |
NCT02693119 |
SPILH-201 |
|
March 2016 |
May 2018 |
May 2018 |
February 26, 2016 |
September 11, 2017 |
|
- Doheny Eye Center
Pasadena, California, United States
|
|
| 23 |
NCT00528151 |
Completed |
A Randomized, Double-blind, Placebo-controlled Trial of Curcumin in Leber's Hereditary Optic Neuropathy (LHON) |
- Optic Atrophy, Hereditary, Leber
|
|
Interventional
|
Phase 3 |
|
Other |
- Allocation: Randomized
- Intervention Model: Parallel Assignment
- Masking: Double (Participant, Investigator)
- Primary Purpose: Treatment
|
|
70 |
All |
8 Years and older (Child, Adult, Older Adult) |
NCT00528151 |
123/2547 |
|
May 2005 |
|
December 2007 |
September 12, 2007 |
December 24, 2012 |
|
- Professor Wanicha Chuenkongkaew
Bangkok, Thailand
|
|
| 24 |
NCT02176733 |
Unknown † |
Trial of Cyclosporine in the Acute Phase of Leber Hereditary Optic Neuropathy |
- Leber Hereditary Optic Neuropathy
|
|
Interventional
|
Phase 2 |
- University Hospital, Angers
|
Other |
- Intervention Model: Single Group Assignment
- Masking: None (Open Label)
- Primary Purpose: Treatment
|
- Measurement of visual acuity with Monoyer, Early Treatment Diabetic Retinopathy Study and Parinaud scales
|
12 |
All |
18 Years and older (Adult, Older Adult) |
NCT02176733 |
PHRC 2010-05 |
CICLO-NOHL |
July 2011 |
October 2015 |
|
June 27, 2014 |
June 27, 2014 |
|
- Centre Hospitalier Universitaire
Angers, France
|
|
| 25 |
NCT01892943 |
Completed |
Leber Hereditary Optic Neuropathy (LHON) Historical Case Record Survey |
- Leber Hereditary Optic Neuropathy (LHON)
|
|
Observational
|
|
- Santhera Pharmaceuticals
- European Vision Institute Clinical Research Network
|
Industry / Other |
- Observational Model: Case-Only
- Time Perspective: Retrospective
|
|
306 |
All |
Child, Adult, Older Adult |
NCT01892943 |
LHON HCR |
|
August 2013 |
February 2014 |
February 2014 |
July 8, 2013 |
May 15, 2014 |
|
- University Hospitals Leuven
Leuven, Belgium - Glostrup Hospital/National Eye Clinic of the Kennedy Center/University of Copenhagen Department of Ophthalmology
Glostrup, Denmark - CHU Bordeaux
Bordeaux, France - (and 5 more...)
|
|
| 26 |
NCT01421381 |
Completed |
RHODOS Follow-up Single-visit Study |
- Leber's Hereditary Optic Neuropathy
|
|
Observational
|
|
|
Industry |
- Observational Model: Cohort
- Time Perspective: Prospective
|
|
60 |
All |
15 Years to 69 Years (Child, Adult, Older Adult) |
NCT01421381 |
SNT-II-003-OFU |
RHODOS-OFU |
September 2011 |
November 2011 |
December 2011 |
August 22, 2011 |
May 27, 2013 |
|
- Hôpital Notre-Dame (CHUM)
Montreal,, Quebec, Canada - Friedrich Baur Institut Neurologische Klinik und Poliklinik
München, Germany - Biomedical Research Centre, The Medical School
Newcastle upon Tyne, United Kingdom
|
|
| 27 |
NCT03295071 |
Recruiting |
REALITY LHON Registry |
- Leber Hereditary Optic Neuropathy
|
- Other: Patient-reported outcomes (PROs)
|
Observational
|
|
|
Industry |
- Observational Model: Cohort
- Time Perspective: Cross-Sectional
|
- Visual Function
- The National Eye Institute Visual Function Questionnaire (VFQ)-25
- The 36-Item Short Form Health Survey (SF-36)
- (and 3 more...)
|
50 |
All |
Child, Adult, Older Adult |
NCT03295071 |
GS010_Registry_001 |
REALITY |
January 3, 2018 |
March 2019 |
March 2019 |
September 27, 2017 |
May 7, 2018 |
|
- Wills Eye Institute
Philadelphia, Pennsylvania, United States
|
|
| 28 |
NCT01495715 |
Withdrawn |
Study With Idebenone in Patients With Chronic Vision Loss Due to Leber's Hereditary Optic Neuropathy (LHON) |
- Leber's Hereditary Optic Neuropathy
|
- Drug: Idebenone
- Drug: Placebo
|
Interventional
|
Phase 3 |
|
Industry |
|
|
0 |
All |
10 Years to 65 Years (Child, Adult, Older Adult) |
NCT01495715 |
SNT-III-011 |
|
|
|
|
December 20, 2011 |
August 22, 2014 |
|
|
|
| 29 |
NCT03293524 |
Recruiting |
Efficacy and Safety Study of Bilateral Intravitreal Injection of GS010 for the Treatment of Vision Loss up to 1 Year From Onset in LHON Due to the ND4 Mutation |
- Leber Hereditary Optic Neuropathy (Optic, Atrophy, Hereditary, Leber)
|
- Genetic: GS010
- Drug: Placebo
|
Interventional
|
Phase 3 |
|
Industry |
- Allocation: Randomized
- Intervention Model: Parallel Assignment
- Masking: Double (Participant, Investigator)
- Primary Purpose: Treatment
|
- Best-Corrected Visual Acuity (BCVA) reported using Log of the Minimal Angle of Resolution (LogMAR) - 1 year
- Best-Corrected Visual Acuity (BCVA) reported with LogMAR - 2 years
- Responder Analysis
- (and 5 more...)
|
90 |
All |
15 Years and older (Child, Adult, Older Adult) |
NCT03293524 |
GS-LHON-CLIN-05
2017-002187-40 |
REFLECT |
March 12, 2018 |
June 30, 2020 |
June 30, 2021 |
September 26, 2017 |
April 9, 2018 |
|
- University of Colorado Health Eye Center
Aurora, Colorado, United States
|
|
| 30 |
NCT02771379 |
Recruiting |
Post Authorisation Safety Study With Raxone in LHON Patients |
- Leber's Hereditary Optic Neuropathy (LHON)
|
|
Observational
|
|
|
Industry |
- Observational Model: Cohort
- Time Perspective: Prospective
|
- Long-term safety profile of Raxone® in the treatment of patients with LHON when used under conditions of routine clinical care.
- Long-term effectiveness of Raxone® in the treatment of patients with LHON when used under conditions of routine clinical care
|
250 |
All |
Child, Adult, Older Adult |
NCT02771379 |
SNT-IV-003 |
PAROS |
September 2016 |
February 2021 |
|
May 13, 2016 |
July 7, 2017 |
|
- Medical University of Vienna
Vienna, Austria - CHU de Nîmes - Hôpital Carémeau
Nîmes, Gard, France - CHU Angers - Hôpital Hôtel Dieu
Angers, Maine et Loire, France - (and 24 more...)
|
|
| 31 |
NCT02774005 |
Recruiting |
Study to Assess the Efficacy and Safety of Raxone in LHON Patients |
- Leber's Hereditary Optic Neuropathy (LHON)
|
|
Interventional
|
Phase 4 |
|
Industry |
- Intervention Model: Single Group Assignment
- Masking: None (Open Label)
- Primary Purpose: Treatment
|
- Proportion of eyes with clinically relevant recovery of visual acuity from Baseline
|
250 |
All |
12 Years and older (Child, Adult, Older Adult) |
NCT02774005 |
SNT-IV-005 |
LEROS |
May 2016 |
April 2020 |
|
May 16, 2016 |
November 27, 2017 |
|
- Retinal Consultants of Arizona
Phoenix, Arizona, United States - Palo Alto Medical Foundation
Palo Alto, California, United States - Stanford Byers Eye Institute
Stanford, California, United States - (and 28 more...)
|
|
| 32 |
NCT03520751 |
Recruiting |
Phase I/IIa Trial of scAAV1.tMCK.NTF3 for Treatment of CMT1A |
- Charcot-Marie-Tooth Neuropathy Type 1A
|
|
Interventional
|
Phase 1
Phase 2 |
- Nationwide Children's Hospital
|
Other |
- Allocation: Non-Randomized
- Intervention Model: Parallel Assignment
- Masking: None (Open Label)
- Primary Purpose: Treatment
|
- Safety based on number of participants with adverse events.
- Efficacy - the ability to halt the decline in functional and sensory abilities
- Physical Therapy Assessments The 100 Meter Timed Test (100m)
- (and 5 more...)
|
9 |
All |
15 Years to 35 Years (Child, Adult) |
NCT03520751 |
IRB17-01287 |
|
June 2018 |
April 1, 2020 |
April 1, 2020 |
May 10, 2018 |
June 5, 2018 |
|
- Nationwide Children's Hospital
Columbus, Ohio, United States
|
|
| 33 |
NCT00271635 |
Completed |
Ascorbic Acid Treatment in CMT1A Trial (AATIC) |
- Charcot-Marie-Tooth Disease
- Hereditary Motor and Sensory Neuropathies
|
- Drug: Placebo
- Drug: ascorbic acid
|
Interventional
|
Phase 2 |
- Academisch Medisch Centrum - Universiteit van Amsterdam (AMC-UvA)
|
Other |
- Allocation: Randomized
- Intervention Model: Parallel Assignment
- Masking: Quadruple (Participant, Care Provider, Investigator, Outcomes Assessor)
- Primary Purpose: Treatment
|
- Change in motor nerve conduction velocity of the median nerve after 1 year
- Change in minimal F response latency of the median nerve after 1 year
- Changes in compound muscle action potential amplitude and area after 1 year
- (and 6 more...)
|
13 |
All |
12 Years to 25 Years (Child, Adult) |
NCT00271635 |
04/320 |
AATIC |
January 2006 |
July 2007 |
July 2007 |
January 4, 2006 |
July 4, 2008 |
|
- Department of Neurology Academic Medical Center University of Amsterdam
Amsterdam, P.O.Box 22660, Netherlands
|
|
| 34 |
NCT01902940 |
Completed |
Natural History in CCFDN and IBM Syndromes |
- Inclusion Body Myositis, Sporadic
- Inclusion Body Myopathy, Autosomal-recessive
- Inclusion Body Myopathy, Autosomal-dominant
- Congenital Cataracts, Facial Dysmorphism, And Neuropathy
|
|
Observational
|
|
- Ludwig-Maximilians - University of Munich
|
Other |
- Observational Model: Cohort
- Time Perspective: Retrospective
|
- Manual Muscle Strength assessed by Medical Research Council (MRC)
|
350 |
All |
Child, Adult, Older Adult |
NCT01902940 |
CCFDN-IBM-2013 |
|
June 2013 |
September 2013 |
October 2013 |
July 18, 2013 |
September 1, 2015 |
|
- Friedrich-Baur-Institut, Ludwig-Maximilians-University of Munich
Munich, Bavaria, Germany
|
|
| 35 |
NCT03406104 |
Recruiting |
RESCUE and REVERSE Long-term Follow-up |
- Leber Hereditary Optic Neuropathy (Optic, Atrophy, Hereditary, Leber)
|
- Genetic: GS010
- Other: Sham Intravitreal Injection
|
Observational
|
|
|
Industry |
- Observational Model: Cohort
- Time Perspective: Prospective
|
- Adverse events (AEs) or serious adverse events (SAEs) (ocular or systemic)
- Best-Corrected Visual Acuity (BCVA) reported with LogMAR
- HumphreyTM visual field (HVF) 30-2 parameters
- (and 7 more...)
|
74 |
All |
15 Years and older (Child, Adult, Older Adult) |
NCT03406104 |
GS-LHON-CLIN-06
2017-002153-11 |
RESCUE/REVERSE |
January 9, 2018 |
July 2022 |
August 2022 |
January 23, 2018 |
April 4, 2018 |
|
- Doheny Eye Center UCLA
Pasadena, California, United States - Emory University Hospital
Atlanta, Georgia, United States - Wills Eye Institute
Philadelphia, Pennsylvania, United States - (and 4 more...)
|
|
| 36 |
NCT02765828 |
Recruiting |
Identification of Tongue Involvement in Late-Onset Pompe Disease |
- Myopathy
- Neuropathy
- Glycogen Storage Disease Type II (Late-onset Pompe Disease)
|
- Other: Observational study
|
Observational
|
|
- Duke University
- Genzyme, a Sanofi Company
|
Other / Industry |
- Observational Model: Case-Control
- Time Perspective: Cross-Sectional
|
- Maximal lingual (tongue) strength measured via manual muscle testing (MMT) measured via ordinal scale (see description)
- Maximal lingual (tongue) strength measured via quantitative muscle testing (QMT) measured in kilopascals (KPA)
- Maximal muscle thickness measured with ultrasound assessment in millimeters (mm)
- Echo intensity measured with ultrasound assessment utilizing grayscale analysis
|
70 |
All |
12 Years and older (Child, Adult, Older Adult) |
NCT02765828 |
Pro00068729 |
|
May 2016 |
April 2019 |
April 2019 |
May 9, 2016 |
April 4, 2018 |
|
- Duke University Medical Center
Durham, North Carolina, United States
|
|
| 37 |
NCT00004568 |
Recruiting |
Study of Inherited Neurological Disorders |
- Motor Neuron Disease
- Muscular Disease
- Muscular Dystrophy
- Peripheral Nervous System Disease
|
|
Observational
|
|
- National Institute of Neurological Disorders and Stroke (NINDS)
- National Institutes of Health Clinical Center (CC)
|
NIH |
|
|
2500 |
All |
2 Years and older (Child, Adult, Older Adult) |
NCT00004568 |
000043
00-N-0043 |
|
February 8, 2000 |
|
|
February 14, 2000 |
June 18, 2018 |
|
- National Institutes of Health Clinical Center, 9000 Rockville Pike
Bethesda, Maryland, United States - Department of Neurology of the Teaching Hospital (CHU) of Point G
Bamako, Mali
|
|
| 38 |
NCT01847937 |
Completed |
Magnetic Resonance Diagnostics of Diabetic Peripheral Neuropathy |
- Diabetes Mellitus, Type 1
- Diabetes Mellitus, Type 2
- Diabetic Polyneuropathy
- (and 3 more...)
|
|
Observational
|
|
- Aarhus University Hospital
- University of Southern Denmark
|
Other |
- Observational Model: Case-Control
- Time Perspective: Prospective
|
- Increase in magnetic resonance signal intensity of segmented nerves
- Determine diffusion weighted magnetic resonance values according to neuropathy
- Examination of magnetic resoance morphological differences according to neuropathy
- Correlation of magnetic resoance signal intensity value and nerve conduction thresholds
|
115 |
All |
18 Years to 90 Years (Adult, Older Adult) |
NCT01847937 |
1-10-72-85-13
VEK: 1-10-72-85-13 |
|
May 2013 |
September 2016 |
September 2016 |
May 7, 2013 |
February 3, 2017 |
|
- Department of Endocrinology and Internal Medicine
Aarhus, Denmark - Department of Neurology
Aarhus, Denmark - Department of Neurophysiology
Aarhus, Denmark - (and 2 more...)
|
|
| 39 |
NCT01289704 |
Unknown † |
Treadmill, Stretching and Proprioceptive Exercise (TreSPE) Rehabilitation Program for Charcot−Marie−Tooth Neuropathy Type 1A (CMT1A) |
- Charcot-Marie-Tooth Disease
- Charcot-Marie-Tooth Disease Type 1A
|
|
Interventional
|
Phase 2
Phase 3 |
|
Other |
- Allocation: Randomized
- Intervention Model: Parallel Assignment
- Masking: Single (Outcomes Assessor)
- Primary Purpose: Treatment
|
- Walking ability of patients will be evaluated as the time needed to walk for 10 meters at normal speed for the patients
- Walking ability of patients will be evaluated after finishing the treatment as the time needed to walk for 10 meters at normal speed for the patients
- Balance will be evaluated through the Berg Scale
- (and 2 more...)
|
92 |
All |
18 Years to 70 Years (Adult, Older Adult) |
NCT01289704 |
GUP09013 |
TreSPE |
February 2011 |
October 2011 |
January 2012 |
February 4, 2011 |
February 4, 2011 |
|
- University of Genoa
Genoa, Italy - I.R.C.C.S. Foundation, Besta Institute
Milan, Italy - Don Carlo Gnocchi Foundation
Rome, Italy - Departement of Neurological and Visual Sciences, University of Verona
Verona, Italy
|
|
| 40 |
NCT03190577 |
Recruiting |
Assessment of the Prevalence of TTR Amyloid Neuropathy in a Population of Patients With Neuropathy of Unknown Aetiology |
- Familial Amyloid Neuropathy
- Transthyretin Amyloidosis
|
|
Interventional
|
Not Applicable |
- Nantes University Hospital
- Pfizer
|
Other / Industry |
- Intervention Model: Single Group Assignment
- Masking: None (Open Label)
- Primary Purpose: Diagnostic
|
- to evaluate the prevalence of TTR amyloidosis
- To identify risk factors of carrying TTR mutations amongst those presenting with "unknown aetiology" neuropathy
- Description of the TTR-FAP cohort
|
400 |
All |
18 Years to 90 Years (Adult, Older Adult) |
NCT03190577 |
RC16_0427 |
PRE-TRANS |
September 21, 2017 |
January 30, 2021 |
January 30, 2021 |
June 19, 2017 |
November 21, 2017 |
|
- Chu Angers
Angers, France - Chru Brest
Brest, France - Chd La Roche Sur Yon
La Roche-sur-Yon, France - (and 9 more...)
|
|
| 41 |
NCT03373370 |
Recruiting |
Early Diagnosis of TTR Amyloidosis by Use of Molecular Biology |
- Polyneuropathy
- Diagnosis
- Idiopathic Progressive Neuropathy
|
|
Observational
|
|
- Assistance Publique - Hôpitaux de Paris
|
Other |
- Observational Model: Cohort
- Time Perspective: Prospective
|
- Rate of amyloidogenic TTR mutation
- To identify the rate of amyloidogenic TTR mutation in different subgroups of patients with neuropathy
- To identify the rate of amyloidogenic TTR mutation in different subgroups of patients with neuropathy :variant Chronic Inflammatory Demyelinating Polyneuropathy (CIDP)
- To identify the rate of amyloidogenic TTR mutation in different subgroups of patients with neuropathy : upper limb onset neuropathy.
|
1000 |
All |
51 Years and older (Adult, Older Adult) |
NCT03373370 |
NI 16007 |
ADDITION |
March 17, 2017 |
March 27, 2018 |
March 16, 2019 |
December 14, 2017 |
January 17, 2018 |
|
- Chu Bicetre
Le Kremlin Bicetre, Kremlin Bicetre, France - CHU Martinique
Martigues, Martinique, France - CHU Saint Etienne
Saint-Étienne, Saint Etienne, France - (and 7 more...)
|
|
| 42 |
NCT02939820 |
Available |
Expanded Access Protocol of Patisiran for Patients With Hereditary ATTR Amyloidosis (hATTR) |
- TTR-mediated Amyloidosis
- Amyloidosis, Hereditary
- Amyloid Neuropathies, Familial
- (and 3 more...)
|
- Drug: patisiran (ALN-TTR02)
|
Expanded Access
|
|
|
Industry |
|
|
|
All |
18 Years and older (Adult, Older Adult) |
NCT02939820 |
ALN-TTR02-007 |
|
|
|
|
October 20, 2016 |
June 6, 2018 |
|
- Kaiser Permanente
Oakland, California, United States - Stanford University
Stanford, California, United States - MedStar Washington Hospital
Washington, District of Columbia, United States - (and 18 more...)
|
|
| 43 |
NCT03268681 |
Recruiting |
BIOtinidase Test In Optic-Neuropathy |
- Biotin Deficiency
- Optic Neuropathy
|
|
Observational
|
|
- Fondation Ophtalmologique Adolphe de Rothschild
|
Other |
- Observational Model: Case-Only
- Time Perspective: Cross-Sectional
|
- prevalence of biotin deficiency among patients with idiopathic optic neuropathy
|
30 |
All |
Child, Adult, Older Adult |
NCT03268681 |
RDS_2017_14 |
BIOTIN |
July 26, 2017 |
September 2018 |
April 2019 |
August 31, 2017 |
September 6, 2017 |
|
- Fondation OPH A. de Rothschild
Paris, France
|
|
| 44 |
NCT02473445 |
Terminated
Has Results |
A Long-term Extension of Study RP103-MITO-001 (NCT02023866) to Assess Cysteamine Bitartrate Delayed-release Capsules (RP103) in Children With Inherited Mitochondrial Disease |
|
- Drug: Cysteamine Bitartrate
|
Interventional
|
Phase 2 |
|
Industry |
- Intervention Model: Single Group Assignment
- Masking: None (Open Label)
- Primary Purpose: Treatment
|
- Change in Newcastle Paediatric Mitochondrial Disease Scale (NPMDS) Score
- Change Over Time in Two of the Most Pre-eminent Symptoms
- Change Over Time in Pharmacodynamic Biomarkers
|
22 |
All |
6 Years to 17 Years (Child) |
NCT02473445 |
RP103-MITO-002 |
|
May 19, 2015 |
March 6, 2017 |
March 6, 2017 |
June 16, 2015 |
May 11, 2018 |
May 11, 2018 |
- University of California at San Diego (UCSD)
San Diego, California, United States - Stanford University School of Medicine
Stanford, California, United States - Akron Children's Hospital
Akron, Ohio, United States - (and 2 more...)
|
|
| 45 |
NCT02564484 |
Recruiting |
iPSC Neurons From Adult Survivors of Childhood Cancer Who Have Persistent Vincristine-Induced Neuropathy |
|
|
Observational
|
|
- St. Jude Children's Research Hospital
- University of Chicago
- National Cancer Institute (NCI)
|
Other / NIH |
- Observational Model: Case-Control
- Time Perspective: Prospective
|
- Number of participants for whom iPSCs were created
- Phenotype differences
|
200 |
All |
18 Years and older (Adult, Older Adult) |
NCT02564484 |
SJLPSC
R01CA036401 |
|
February 8, 2016 |
February 2020 |
February 2023 |
September 30, 2015 |
March 1, 2018 |
|
- St. Jude Children's Research Hospital
Memphis, Tennessee, United States
|
|
| 46 |
NCT02023866 |
Completed
Has Results |
Open-Label, Dose-Escalating Study Assessing Safety, Tolerability, Efficacy, of RP103 in Mitochondrial Disease |
- Inherited Mitochondrial Disease, Including Leigh Syndrome
|
- Drug: Cysteamine Bitartrate
|
Interventional
|
Phase 2 |
|
Industry |
- Intervention Model: Single Group Assignment
- Masking: None (Open Label)
- Primary Purpose: Treatment
|
- Change From Baseline in Newcastle Paediatric Mitochondrial Disease Scale (NPMDS) Sections I-IV
- Change From Baseline in Glutathione
- Change From Baseline in Glutathione Disulfide
- (and 7 more...)
|
36 |
All |
6 Years to 17 Years (Child) |
NCT02023866 |
RP103-MITO-001 |
MITO-001 |
May 2014 |
October 2016 |
October 2016 |
December 30, 2013 |
November 13, 2017 |
November 13, 2017 |
- University of California at San Diego (UCSD)
San Diego, California, United States - Stanford University
Stanford, California, United States - Akron Children's Hospital
Akron, Ohio, United States - (and 2 more...)
|
|
| 47 |
NCT00017745 |
Completed |
Phenotype/Genotype Correlations in Neuromuscular Disorders |
|
|
Observational
|
|
- National Institute of Neurological Disorders and Stroke (NINDS)
- National Institutes of Health Clinical Center (CC)
|
NIH |
|
|
1000 |
All |
Child, Adult, Older Adult |
NCT00017745 |
010187
01-N-0187 |
|
June 1, 2001 |
|
May 10, 2007 |
June 11, 2001 |
July 2, 2017 |
|
- National Institutes of Health Clinical Center, 9000 Rockville Pike
Bethesda, Maryland, United States
|
|
| 48 |
NCT03431896 |
Recruiting |
Monitoring of Early Disease Progression in Hereditary Transthyretin Amyloidosis |
- Amyloidosis
- Amyloid
- Amyloid Neuropathies, Familial
- (and 4 more...)
|
|
Observational
|
|
|
Other |
- Observational Model: Cohort
- Time Perspective: Prospective
|
- Average % change in oligomers in patients with new onset TTR amyloid symptoms
- % change of oligomer levels relative to baseline level in patients with ATTR specific medication changes
|
10 |
All |
Child, Adult, Older Adult |
NCT03431896 |
17-1301 |
MED-hATTR |
February 1, 2018 |
February 15, 2024 |
February 15, 2024 |
February 13, 2018 |
February 13, 2018 |
|
- Cleveland Clinic
Cleveland, Ohio, United States
|
|
| 49 |
NCT03237494 |
Recruiting |
Screening for Hereditary Transthyretin Related Amyloidosis - an Internationales, Multicentre, Epidemiological Protocol |
- Polyneuropathies
- Amyloidosis
- Amyloid Neuropathies
- (and 4 more...)
|
|
Observational
|
|
|
Industry |
- Observational Model: Case-Control
- Time Perspective: Prospective
|
- Estimation of the prevalence of TTR in patients with polyneuropathy or cardiomyopathy of undetermined etiology
- Number of correctly identified patients with hereditary transthyretin-related amyloidosis
|
5000 |
All |
18 Years to 75 Years (Adult, Older Adult) |
NCT03237494 |
TRAM2 analysis |
TRAM2 |
July 20, 2017 |
November 2019 |
December 2019 |
August 2, 2017 |
June 7, 2018 |
|
- Allgemeines Krankenhaus Celle
Celle, Germany
|
|
| 50 |
NCT02696746 |
Recruiting |
Painful Channelopathies Study |
- Erythromelalgia
- Pain Insensitivity, Congenital
- Hereditary Sensory and Autonomic Neuropathies
- Chronic Pain
|
|
Observational
|
|
- King's College London
- University of Oxford
- Neuroscience Technologies S.L.P
|
Other |
- Observational Model: Cohort
- Time Perspective: Cross-Sectional
|
- Pain score
- Age
- Gender
- (and 14 more...)
|
100 |
All |
18 Years to 99 Years (Adult, Older Adult) |
NCT02696746 |
12/LO/0017 |
PCS |
February 2012 |
January 2019 |
|
March 2, 2016 |
February 16, 2018 |
|
- Nuffield Department of Clinical Neurosciences
Oxford, Oxfordshire, United Kingdom
|
|
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