Active clinical trials for "Spastic Paraplegia, Hereditary"

This study uses medical records that allow retrospective data extraction of clinical manifestation to assess the natural history of HPDL mutations

The goals of this study are: (1) to better understand the relationship between the phenotype and genotype of amyotrophic lateral sclerosis (ALS) and related diseases, including primary lateral sclerosis (PLS), hereditary spastic paraplegia (HSP), progressive muscular atrophy (PMA), and frontotemporal dementia (FTD); and (2) to develop biomarkers that might be useful in aiding therapy development for this group of disorders.

The purpose of this project is to study the efficacy of three candidate molecules (Xenbilox, Tahor and Resveratrol) in order to decrease the production of oxysterols by reducing the synthesis of cholesterol and/or regulate the production of bile acids and/or enabling neuroprotective action within the motor neuron.

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.

There are limited but encouraging results supporting the use of dalfampridine in patients with hereditary spastic paraplegia. The investigators aimed to investigate the effects of dalfampridine on walking speed, muscle length, spasticity, functional strength, and functional mobility in patients with hereditary spastic paraplegia. In this triple-blinded, randomized, placebo-controlled trial, 4 patients with hereditary spastic paraplegia received dalfampridine (10 mg twice daily) plus physiotherapy (2 times per week), and 4 patients received placebo plus physiotherapy for a total duration of 8 weeks. The assessor and treating physiotherapists, and patients were masked to the group allocation. The primary outcome was Timed 25-foot Walk Test at the end of the 8-week treatment. The secondary outcome measures were functional mobility, functional muscle strength, muscle length, and spasticity.

Hereditary spastic paraplegia (HSP) is the group of inherited disorders, characterized by progressive gait disturbance. There is no established therapy. Adrenoleukodystrophy (AMN) is an x-linked hereditary disease. One of its form, the adrenomyeloneuropathy has the same symptoms as HSP. Current therapeutic options for AMN are very limited. Repetitive Transcranial Magnetic Stimulation (rTMS) is a noninvasive method of modulation of brain plasticity. The purpose of this study is to compare the effectiveness of rTMS in improving the HSP- and AMN-related gait disturbance and other symptoms with sham stimulation. Intervention will include five daily sessions. In each session 1500 magnetic pulses will be administered to each of both primary motor areas for lower extremities. Assessment of gait and of strength and spasticity of lower extremities will be made before and after therapy, as well as two weeks later.

Hereditary spastic paraplegias constitute a heterogeneous group of diseases with the common predominant feature of spasticity of the lower limbs. The clinical picture is composed of difficulty walking, exaggerated deep reflexes, pathological reflexes such as the Babinski sign, sphincter disturbances and various degrees of weakness as well as sensory disturbances. Spasticity is the symptom that provoques greater incapacity. Although there have been recent advances in the genetic and pathogenic characterization of SPG there is scarcity of therapeutic options. The Botulinum Toxin (BTx) is a well established treatment for movement disorders such as cervical dystonia, blepharospasm, and arm spastic following stroke. Therefore, the investigators propose the execution of a randomized, double-blind, placebo-controlled, crossover study to evaluate the efficacy of the treatment with Btx over SPG patient's gait. The primary outcome measure will be gait velocity with the 10 meter walking test 8 weeks after injection. Each participant will be submitted to one injection session of Btx and one of placebo (consisting of sterile sodium chloride), each one separated by a period of 6 months. The primary and secondary outcomes will be evaluated by a blind investigator 8 weeks after each injection session.

A first questionnaire - MODIFSPA conducted in 2014 - identified several environmental factors influencing spasticity in HSP: cold, fatigue, and especially physical activity. In order to improve the care of patients with HSP, The investigator team are looking to deepen the knowledge on physical exercises relieving spasticity as well as to better know the frequency of symptoms requiring additional medical care: fatigue and vesico-sphincter disorders. A new questionnaire was therefore created to collect additional information to optimize the care of patients with HSP.

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.

Background: Hereditary spastic paraplegia (HSP) usually progresses slowly. Researchers want to learn more about how its symptoms change over time. They want to look for changes in the blood and cells of people with the most common forms of HSP that might allow them to better understand the disease. Objectives: To learn more about common forms of hereditary spastic paraplegia and find out how it progresses over time. Eligibility: People age 7 and older with SPG3A, SPG4A, or SPG31 Design: Participants will have 1 two-hour visit each year for up to 5 years. At 1 visit, adult participants may have a skin biopsy. An area of skin will be numbed then a tool will remove a small piece of skin. At all visits, all participants will have a physical exam and blood drawn. At all visits, participants will do a few tasks like walking quickly and climbing stairs. Participants can give permission for their skin cells, DNA samples, and data to be used in other studies. The samples and data will have no identifying information.