A Neuroprosthesis for Prolonged Standing After SCI Using Multi-Contact Peripheral Nerve Electrodes...
Spinal Cord InjuryParalysis2 moreThe purpose of this study is to improve the performance of neuroprosthesis for standing after SCI by developing and testing new advanced methods that use multiple contact peripheral nerve electrodes to slow the onset of fatigue and increase standing duration. The new advanced methods will take advantage of the ability of multiple-contact nerve cuff electrodes to selectively activate portions of a muscle that perform the same action. Alternating activation to multiple muscles (or parts of the same muscle) rather than continuously activation the entire muscle group constantly should allow them to rest and recover from fatiguing contractions. This should allow users to remain upright for longer periods of time to perform activities of daily living, reduce the risk of falls due to fatigue, and increase the potential of receiving the health benefits of standing.
Epidural and Dorsal Root Stimulation in Humans With Spinal Cord Injury
Spinal Cord InjuriesParaplegia2 moreA study to compare electrophysiologic activity of epidural stimulation and dorsal root ganglion stimulation, as well as quantify changes in motor performance with both types of stimulation over the course of 10 rehabilitation sessions.
Long Term Efficacy and Tolerability of AP707 in Patients With Chronic Pain Due to Central Neuropathy...
PainPain Syndrome12 moreOver the last years a rising medical need for treatment of chronic pain was identified. Based on previous findings indicating the pain modulating effects of cannabinoids in chronic pain disorders, this clinical trial investigates the long term efficacy and tolerability of the THC-focused nano endocannabinoid system modulator AP707 in patients with chronic pain disorders due to central neuropathy of any genesis. Patients receive AP707 or placebo over the course of 14 weeks as an add-on to the standard of care. Changes in pain intensity, quality of life and sleep and others measures are monitored through different scales to assess the efficacy of AP707 in patients with chronic pain due to central neuropathy of any genesis.
Administration of MELPIDA to Determine the Safety and Efficacy for Patients With Spastic Paraplegia...
Spastic Paraplegia Type 50This will be a first-in-human Phase I, open-label, single dose clinical study of MELPIDA administered intrathecally (IT) through a lumbar puncture (LP) to a single subject with confirmed pathogenic mutations in the Adaptor Related Protein Complex 4 Subunit Mu 1 (AP4M1) gene. The primary outcome will be the determination of the safety and tolerability of MELPIDA in patients with SPG50, based on development of toxicity. The secondary outcome will be a preliminary exploration of efficacy of the treatment. MELPIDA, is a recombinant serotype 9 adeno-associated virus (AAV) encoding a codon-optimized human AP4M1 transgene and will be administer to the patient via a single intrathecal infusion of 10 mL at 1E14 vg/mL for a total dose of 1E15 vg. The total study duration is 5 years post dosing and the participant will be tested at screening/baseline (-28 to -7 days), return for dosing, and then follow-up visits post-dosing on Days 7 (+/-2), 30 (+/-2), 60 (+/-2), 90 (+/-14), 180 (+/-14), 270 (+/-14), 360 (+/-14), 540 (+/-14), and 720 (+/-14) days, then annually for the last 3 years.
Phenotype, Genotype and Biomarkers 2
Amyotrophic Lateral SclerosisHereditary Spastic Paraplegia3 moreThe purpose of this study is to learn more about amyotrophic lateral sclerosis (ALS) and other related neurodegenerative diseases, including frontotemporal dementia (FTD), primary lateral sclerosis (PLS), hereditary spastic paraplegia (HSP), progressive muscular atrophy (PMA) and multisystem proteinopathy (MSP). More precisely, the investigator wants to identify the links that exist between the disease phenotype (phenotype refers to observable signs and symptoms) and the disease genotype (genotype refers to your genetic information). The investigator also wants to identify biomarkers of ALS and related diseases.
A Registered Cohort Study on Spastic Paraplegia
Spastic ParaplegiaThe aim of this study is to determine the clinical spectrum and natural progression of Hereditary Spastic Paraplegias(HSP) and related disorders in a prospective multicenter natural history study, to assess the clinical, genetic and epigenetic features of patients with Spastic Paraplegias to optimize clinicalmanagement..
Experience of Rehabilitation Amongst Individuals With Paraplegia
Spinal Cord InjuriesThis study is a qualitative study exploring the facilitators to physical and vocational rehabilitation and also explores the barriers in empowering individuals with paraplegia
Hereditary Spastic Paraplegia Genomic Sequencing Initiative (HSPseq)
Hereditary Spastic ParaplegiaNeurodegenerative Diseases5 moreThe purpose of the HSP Sequencing Initiative is to better understand the role of genetics in hereditary spastic paraplegia (HSP) and related disorders. The HSPs are a group of more than 80 inherited neurological diseases that share the common feature of progressive spasticity. Collectively, the HSPs present the most common cause of inherited spasticity and associated disability, with a combined prevalence of 2-5 cases per 100,000 individuals worldwide. In childhood-onset forms, initial symptoms are often non-specific and many children may not receive a diagnosis until progressive features are recognized, often leading to a significant diagnostic delay. Genetic testing in children with spastic paraplegia is not yet standard practice. In this study, the investigators hope to identify genetic factors related to HSP. By identifying different genetic factors, the investigators hope that over time we can develop better treatments for sub-categories of HSP based on cause.
Phenotypes, Biomarkers and Pathophysiology in Hereditary Spastic Paraplegias and Related Disorders...
Hereditary Spastic ParaplegiaThe aim of this study is to determine the clinical spectrum and natural progression of Hereditary Spastic Paraplegias (HSP) and related disorders in a prospective multicenter natural history study, identify digital, imaging and molecular biomarkers that can assist in diagnosis and therapy development and study the genetic etiology and molecular mechanisms of these diseases.
Natural History Study of Patients With HPDL Mutations
Mitochondrial EncephalomyopathiesHereditary Spastic Paraplegia5 moreThis study uses medical records that allow retrospective data extraction of clinical manifestation to assess the natural history of HPDL mutations