Hereditary Spastic Paraplegia Genomic Sequencing Initiative (HSPseq)
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.
Conditions:
🦠 Hereditary Spastic Paraplegia 🦠 Neurodegenerative Diseases 🦠 Pediatric Disorder 🦠 Spasticity, Muscle 🦠 Motor Neuron Disease 🦠 Movement Disorders
🗓️ Study Start (Actual) 25 April 2022
🗓️ Primary Completion (Estimated) 29 April 2027
✅ Study Completion (Estimated) 29 April 2027
👥 Enrollment (Estimated) 200
🔬 Study Type OBSERVATIONAL
📊 Phase N/A
Locations:
📍 Boston, Massachusetts, United States

📋 Eligibility Criteria

Description

    Inclusion Criteria:

    • * Clinical diagnosis of progressive spasticity
Ages Eligible for Study: 1 Month to 30 Years (CHILD, ADULT)
Sexes Eligible for Study: ALL
Accepts Healthy Volunteers: No

🗓️ Study Record Dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Registration Dates

  • First Submitted 26 April 2022
  • First Submitted that Met QC Criteria 26 April 2022
  • First Posted 29 April 2022

Study Record Updates

  • Last Update Submitted that Met QC Criteria 6 September 2023
  • Last Update Posted 7 September 2023
  • Last Verified September 2023