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Spastic Paraplegia, Hereditary clinical trials

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NCT ID: NCT06260982 Recruiting - Spastic Paraplegia Clinical Trials

Cognitive Disorders in Hereditary Spastic Paraplegia Type 4

SPG-TEP
Start date: January 1, 2022
Phase:
Study type: Observational [Patient Registry]

Hereditary spastic paraplegia type 4 is the most frequent mutation of hereditary spastic paraplegias. It is commonly described as pure, with progressive weakness of the lower limbs, pyramidal syndrome and vesico-sphincter disorders. However, cognitive disorders have been reported for over 20 years, but remain poorly characterized.

NCT ID: NCT06117020 Recruiting - Stroke Clinical Trials

Single and Multiple Ascending Dose Study of MTR-601 in Healthy Individuals

Start date: September 11, 2023
Phase: Phase 1
Study type: Interventional

To assess the safety and tolerability of single and multiple doses of MTR-601 in normal healthy volunteers under fed and fasted conditions. To evaluate the plasma and urine pharmacokinetics (PK) of MTR-601. To evaluate the pharmacodynamic (PD) effects of MTR-601 on muscle strength and muscle accumulation of MTR-601 by muscle biopsy and other potential mechanistic, predictive and PD markers of MTR-601.

NCT ID: NCT05848271 Recruiting - Genetic Disease Clinical Trials

Natural History Study of Patients With HPDL Mutations

Start date: May 1, 2023
Phase:
Study type: Observational

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

NCT ID: NCT05767268 Completed - Cerebral Palsy Clinical Trials

Assessment of the Psychophysical State During Rehabilitation Treatment With Lokomat

Start date: February 2, 2022
Phase:
Study type: Observational

The use of robotic technologies in rehabilitation is an increasingly widespread practice in the health sector: the Lokomat is a medical device intended for walking rehabilitation, consisting of an exoskeleton, a treadmill and a harness that supports the body weight and acts as a safety tool This technology is useful in the rehabilitation of pathologies such as prenatal stroke, brain injury, paraplegia, multiple sclerosis and other motor, orthopedic and neurological problems. During these treatments, the psychological / emotional component of the patient is not properly considered and the success of the treatment remains focused on the motor-rehabilitation level. The management of subjective-experiential aspects remains in the hand of clinical figures (primarily physiotherapists) who have no tools for objective assessment other than their sensitivity. However, considering the experience is fundamental for the success of the therapy: this happens especially in the pediatric field, where clinical results improve significantly when children start therapy with a relaxed and positive mental state. The aim of this project is to investigate the rehabilitation experience of patients who perform gait rehabilitation by menas of the Lokomat system, considering the relationship between physiological parameters and moods. Therefore, the main goal is to monitor the patient's psychophysical condition before, during and after the rehabilitation activity, during the different sessions. This will allow describing, with qualitative and quantitative data, the user experience of the patient who undergoes a therapeutic treatment with the Lokomat.

NCT ID: NCT05613114 Completed - Clinical trials for Hereditary Spastic Paraplegia

Effect of Dalfampridine in Patients With Hereditary Spastic Paraplegia

Start date: August 3, 2020
Phase: N/A
Study type: Interventional

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.

NCT ID: NCT05411627 Withdrawn - Clinical trials for Hereditary Spastic Paraplegia

A Pilot Study of Shockwave Therapy in HSP

Start date: January 1, 2023
Phase: N/A
Study type: Interventional

This is a pilot study of the efficacy, safety, and tolerability of shockwave therapy for the treatment of spasticity in Hereditary Spastic Paraplegia.

NCT ID: NCT05373082 Completed - Clinical trials for Hereditary Spastic Paraplegia

Identification of Modifying Factors in Hereditary Spastic Paraplegia

MODIFSPA2
Start date: October 4, 2022
Phase:
Study type: Observational

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.

NCT ID: NCT05354622 Recruiting - Movement Disorders Clinical Trials

Hereditary Spastic Paraplegia Genomic Sequencing Initiative (HSPseq)

Start date: April 25, 2022
Phase:
Study type: Observational [Patient Registry]

The 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.

NCT ID: NCT05196178 Recruiting - Gait Clinical Trials

Spinal Cord Stimulation Therapy for Hereditary Spastic Paraplegias Patients

Start date: November 15, 2021
Phase: N/A
Study type: Interventional

It's a single-center, prospective, open label clinical study with a 12 months follow-up period, to investigate the therapeutic effect and safety of spinal cord stimulation (SCS) on motor function and gait in patients with pure Hereditary Spastic Paraplegias.

NCT ID: NCT04912609 Completed - Clinical trials for Hereditary Spastic Paraplegia

Trehalose Administration in Subjects With Spastic Paraplegia 11 (3AL-SPG11)

3AL-SPG11
Start date: June 30, 2021
Phase:
Study type: Observational

Hereditary spastic paraparesis type 11 (SPG11) is caused by mutations in the SPG11 gene that produces spatacsin, a protein involved in lysosomal function.