Cognitive Disorders and Metabolism in 18-FDG- PET in Hereditary Spastic Paraplegia Type 4 (SPG4)
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.
NCT06260982 — Spastic Paraplegia
Status: Recruiting
http://inclinicaltrials.com/spastic-paraplegia/NCT06260982/
A Phase 1 Open-label Intrathecal Administration of MELPIDA to Determine the Safety and Efficacy for Patients With Spastic Paraplegia Type 50 (SPG50) Caused by a Mutation in the AP4M1 Gene
This 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.
NCT06069687 — Spastic Paraplegia Type 50
Status: Active, not recruiting
http://inclinicaltrials.com/spastic-paraplegia-type-50/NCT06069687/
Effect of Dalfampridine in Patients With Hereditary Spastic Paraplegia
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.
NCT05613114 — Hereditary Spastic Paraplegia
Status: Completed
http://inclinicaltrials.com/hereditary-spastic-paraplegia/NCT05613114/
Ultrasonographic Measurements of the Achilles Tendon and Talar Condylar Cartilage Thickness in Paraplegia Patients.
Investigators aim to measure the ankle talar cartilage and achilles tendon thicknesses ultrasonographically in paraplegic patients and compare them with the normal population.
NCT05483764 — Paraplegia
Status: Active, not recruiting
http://inclinicaltrials.com/paraplegia/NCT05483764/
Identification of Modifying Factors in Hereditary Spastic Paraplegia
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.
NCT05373082 — Hereditary Spastic Paraplegia
Status: Completed
http://inclinicaltrials.com/hereditary-spastic-paraplegia/NCT05373082/
Investigating the Genetic Basis of Hereditary Spastic Paraplegia
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.
NCT05354622 — Movement Disorders
Status: Recruiting
http://inclinicaltrials.com/movement-disorders/NCT05354622/
Experience of Physical and Vocational Rehabilitation Amongst Individuals With Paraplegia
This study is a qualitative study exploring the facilitators to physical and vocational rehabilitation and also explores the barriers in empowering individuals with paraplegia
NCT05267223 — Spinal Cord Injuries
Status: Recruiting
http://inclinicaltrials.com/spinal-cord-injuries/NCT05267223/
Effects of Spinal Cord Stimulation Therapy on Motor Function and Gait in Patients With Pure Hereditary Spastic Paraplegias
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.
NCT05196178 — Gait
Status: Recruiting
http://inclinicaltrials.com/gait/NCT05196178/
Imaging Biomarkers in Spastic Paraplegia Type 5
This is a research study aiming to identify imaging biomarkers in patients diagnosed with spastic paraplegia type 5 (SPG5)
NCT05174403 — Spastic Paraplegia Type 5A, Recessive
Status: Completed
http://inclinicaltrials.com/spastic-paraplegia-type-5a-recessive/NCT05174403/
Prospective, Retrospective, Multicenter, Observational Study of Disease Progression in Adults With Inherited Forms of Spastic Paraplegia
The course of AMN-related disabilities over time is poorly or incompletely understood due to a limited number of patients and lack of treatments. This study will help obtain a better understanding of the progression of disease with AMN and facilitate efficient clinical development of future interventional medications.
NCT05008874 — AMN
Status: Active, not recruiting
http://inclinicaltrials.com/amn/NCT05008874/