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Last Updated: 01/06/2023

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Clinical and Molecular Manifestations of Neuromuscular and Neurogenetic Disorders of Childhood

Background: - Some nerve and muscle disorders that start early in life (before age 25), like some forms of muscular dystrophy, can run in families. However, the genetic causes of these disorders are not known. Also, doctors do not fully understand how symptoms of these disorders change over time. Researchers want to learn more about genetic nerve and muscle disorders that start in childhood by studying affect...

Studying the Prodromal and Early Phase of Hereditary Spastic Paraplegia Type 4 (SPG4)

Summary: Study goals Prospective longitudinal data on progression in the natural course of SPG4 in presymptomatic mutation carriers prior to clinical disease onset and in early stages of disease Biomarkers providing objective measures of disease activity

Registry and Natural History Study for Early Onset Hereditary Spastic Paraplegia (HSP)

Summary: 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 ...

Phenotype, Genotype & Biomarkers in ALS and Related Disorders

Summary: 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 f...

Phenotype, Genotype and Biomarkers 2

Summary: The 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 di...

Effects of Spinal Cord Stimulation Therapy on Motor Function and Gait in Patients With Pure Hereditary Spastic Paraplegias

Summary: 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.

PCSK9 Inhibitor Treatment for Patients With Hereditary Spastic Paraplegia Type 5

Summary: 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 acid...

Phenotypes, Biomarkers and Pathophysiology in Hereditary Spastic Paraplegias and Related Disorders

Summary: 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.

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Last Updated: 01/06/2023