An Observational Study in Subjects With Spastic Paraplegia Type 11 Taking Trehalose
Hereditary spastic paraparesis type 11 (SPG11) is caused by mutations in the SPG11 gene that produces spatacsin, a protein involved in lysosomal function.
NCT04912609 — Hereditary Spastic Paraplegia
Status: Completed
http://inclinicaltrials.com/hereditary-spastic-paraplegia/NCT04912609/
Phase 2 Pharmacological Trial to Evaluate the Safety of Miglustat Administration in Subjects With Spastic Paraplegia 11 (TreatSPG11)
Hereditary spastic paraparesis type 11 (SPG11) is caused by mutations in the SPG11 gene that produces spatacsin, a protein involved in lysosomal function. Studies performed in skin cells (fibroblasts) from SPG11 patients, mice and zebrafish models of the disease showed that the material accumulated in the lysosomes is made of glycosphingolipids (GSL). Miglustat is a drug that inhibits an enzyme called glucosylceramide synthetase (GCS) which is used for the production of GSL. Miglustat, therefore, helps to delay the production of GSL. This study aims to collect preliminary data on the safety of miglustat on the SPG11 disease and to assess biomarkers.
NCT04768166 — Hereditary Spastic Paraparesis
Status: Completed
http://inclinicaltrials.com/hereditary-spastic-paraparesis/NCT04768166/
Registry and Natural History Study for Early Onset Hereditary Spastic Paraplegia (HSP)
The Registry and Natural History Study for Early Onset Hereditary Spastic Paraplegia (HSP) is focused on gathering longitudinal clinical data as well as biological samples (skin and/or blood and/or saliva) from male or female patients who exhibited onset of HSP symptoms at 18 years old or younger with (1) a clinical diagnosis of hereditary spastic paraplegia and/or (2) the presence of variants in HSP related genes and/or be a relative of a person with such a diagnosis. Currently, the treatment for this disorder is generally symptomatic and available therapies improve quality of life, but are grossly inefficient in slowing the disease progression. Access to the registry information will be limited to the study staff who are responsible for recruitment and maintenance of the registry. We hope that recruitment into registry for studies will advance knowledge of the causes, clinical course, diagnosis and treatment of these conditions.
NCT04712812 — Hereditary Spastic Paraplegia
Status: Recruiting
http://inclinicaltrials.com/hereditary-spastic-paraplegia/NCT04712812/
Cardiovascular Effects of High Intensity Interval Training in Individuals With Paraplegia
The study seeks to determine whether high intensity interval training has an effect on cardiovascular parameters in wheelchair users with paraplegia.
NCT04378218 — Paraplegia, Spinal
Status: Completed
http://inclinicaltrials.com/paraplegia-spinal/NCT04378218/
Improving Gait Adaptability in Hereditary Spastic Paraplegia During Task-specific Training on the C-Mill: Towards Evidence-Based and Individually Tailored Rehabilitation
This study evaluates the effects of ten hours C-mill training on gait adaptability in participants with hereditary spastic paraplegia (HSP). Half of the participants start with five weeks of C-mill training (ten 1-hour sessions). The other participants are placed on a waiting list, which is followed by the same five weeks of C-mill training (ten 1-hour sessions). It is hypothesized that ten hours of context specific C-mill training is effective in improving gait adaptability in participants with pure HSP.
NCT04180098 — Hereditary Spastic Paraplegia
Status: Completed
http://inclinicaltrials.com/hereditary-spastic-paraplegia/NCT04180098/
PCSK9 Inhibitor Treatment for Patients With Hereditary Spastic Paraplegia Type 5
Spastic paraplegia type 5 (SPG5) is a rare subtype of hereditary spastic paraplegia, a highly heterogeneous group of neurodegenerative disorders defined by progressive neurodegeneration of the corticospinal tract motor neurons. SPG5 is caused by recessive mutations in the gene CYP7B1 encoding oxysterol-7a-hydroxylase. This enzyme is involved in the degradation of cholesterol into primary bile acids. CYP7B1 deficiency has been shown to lead to accumulation of neurotoxic oxysterols. Oxysterols were found to impair metabolic activity and viability of human cortical neurons at concentrations found in SPG5 patients, indicating that elevated levels of oxysterols might be key pathogenic factors in SPG5. Monoclonal antibodies that inhibit proprotein convertase subtilisin-kexin type 9 (PCSK9) have emerged as a new class of drugs that effectively lower cholesterol levels. Evolocumab, a member of this class, is a fully human monoclonal antibody that reduces LDL cholesterol levels by approximately 60%. We thus performed this interventional trial with Evolocumab 420 mg for SPG5 patients.
NCT04101643 — Hereditary Spastic Paraplegia Type 5
Status: Recruiting
http://inclinicaltrials.com/hereditary-spastic-paraplegia-type-5/NCT04101643/
Effects of Gait Training for Individuals With Paraplegia Using H-MEX Exoskeleton: A Pilot Study
This study evaluates the feasibility and effects of H-MEX powered exoskeleton in individuals with paraplegia as a result of spinal cord injury.
NCT04055610 — Spinal Cord Injuries
Status: Recruiting
http://inclinicaltrials.com/spinal-cord-injuries/NCT04055610/
A Registered Cohort Study on Spastic Paraplegia
The 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..
NCT04006418 — Spastic Paraplegia
Status: Recruiting
http://inclinicaltrials.com/spastic-paraplegia/NCT04006418/
Phenotypes, Biomarkers and Pathophysiology in Hereditary Spastic Paraplegias and Related Disorders
The 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.
NCT03981276 — Hereditary Spastic Paraplegia
Status: Recruiting
http://inclinicaltrials.com/hereditary-spastic-paraplegia/NCT03981276/
Design and Validation of a Modular Physiotherapy Concept for the Treatment of Hereditary Spastic Spinal Paralysis (HSP) - a Randomized Study
Goal of this study is to develop and evaluate a physiotherapy concept that is focused on bilateral leg spasticity and aims to reduce spastic gait disturbance and to improve mobility in patients suffering from HSP.
NCT03961906 — Hereditary Spastic Paraplegia
Status: Completed
http://inclinicaltrials.com/hereditary-spastic-paraplegia/NCT03961906/