Clinical Trials Logo

Clinical Trial Summary

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.


Clinical Trial Description

The hereditary spastic paraplegias (HSP) are a group of more than 80 inherited neurogenetic 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. The clinical diagnosis of HSP does not suggest anything about its molecular cause, with a wide range of outcomes dependent on the gene affected. The recent advances in HSP genetics speak to the importance of the field and the need for a more detailed study. Moreover, the relations between clinical features and genetic mechanisms are not well understood. Given the influence of genetics on the likelihood of developing HSP as well as the complexity and diversity of the phenotypes, progress in HSP genetics will require efforts looking at relatively large samples of the HSP population. By bringing together very detailed phenotype information with high resolution DNA analyses, and using new approaches for comparing sequence information in candidate genes or looking for phenotype/genotype associations via genome-wide scanning, the investigators aim to be a leader in this emerging area of HSP research. The aims of this study include: 1. To identify genetic findings (single nucleotide changes or copy number variants) in patients with progressive spastic paraplegia and related disorders. 2. To correlate molecular findings with HSP phenotypes. ;


Study Design


Related Conditions & MeSH terms


NCT number NCT05354622
Study type Observational [Patient Registry]
Source Boston Children's Hospital
Contact Darius Ebrahimi-Fakhari, MD, PhD
Phone 617-355-8356
Email hsp.research@childrens.harvard.edu
Status Recruiting
Phase
Start date April 25, 2022
Completion date April 29, 2027

See also
  Status Clinical Trial Phase
Active, not recruiting NCT05623644 - Multimodal MR Imaging Study on ET and PD Patients Subjected With MRgFUS Thalamotomy
Active, not recruiting NCT03548779 - North Carolina Genomic Evaluation by Next-generation Exome Sequencing, 2 N/A
Completed NCT03295786 - Clinical Study to Test the Safety of CDNF by Brain Infusion in Patients With Parkinson's Disease Phase 1/Phase 2
Completed NCT03722212 - Early Diagnosis of the GLUT1 Deficiency Syndrome With a Blood Based Test N/A
Recruiting NCT05973929 - Movement Disorders in Multiple Sclerosis Patients
Terminated NCT02823158 - Bilateral Pallidal Stimulation in Patients With Advanced Parkinson's Disease-LATESTIM N/A
Enrolling by invitation NCT01210781 - Target Planning for Placement of DBS-electrodes and Follow-up of the Clinical Efficacy of Stimulation
Enrolling by invitation NCT00355927 - Sedation During Microelectrode Recordings Before Deep Brain Stimulation for Movement Disorders. N/A
Completed NCT00037167 - Effects of Exercise Poles on Older Adults During Exercise Walking Phase 1/Phase 2
Recruiting NCT04784494 - MST for Parkinson's Disease N/A
Terminated NCT03270189 - Effect of the Visual Information Change in Functional Dystonia N/A
Recruiting NCT04061135 - Neurophysiological, Behavioral, and Cognitive Networks in Movement Disorders N/A
Recruiting NCT04176692 - The Effects of Muscle Characteristics on the Control of Shoulder Complex During Functional Movements
Suspended NCT04912115 - Randomized, Double-Blind, Active Placebo-Controlled Study of Ketamine to Treat Levodopa-Induced Dyskinesia Phase 2
Completed NCT00500994 - Neurobiology of Functional Movement Disorder and Non-Epileptic Seizures Early Phase 1
Completed NCT04536987 - Robot Therapy for Rehabilitation of Hand Movement After Stroke Phase 2
Recruiting NCT00001208 - Botulinum Toxin for the Treatment of Involuntary Movement Disorders
Completed NCT02392078 - Laser Ablation of Abnormal Neurological Tissue Using Robotic NeuroBlate System
Completed NCT00552474 - Deep Brain Stimulation to Treat Symptoms of Parkinson's Disease N/A
Not yet recruiting NCT05032911 - Sensorimotor Control in People With and Without Neck Pain