Hereditary Spastic Paraplegia Genomic Sequencing Initiative (HSPseq)

Part of paid clinical trials in Boston, Massachusetts.

Sponsor
Boston Children's Hospital
Study ID
NCT05354622
Status
Recruiting
Apply to this trial

Conditions

  • Hereditary Spastic Paraplegia
  • Motor Neuron Disease
  • Movement Disorders
  • Neurodegenerative Diseases
  • Pediatric Disorder
  • Spasticity, Muscle

Eligibility Criteria

Sex
ALL
Age
1 Month - 30 Years
Healthy Volunteers
Not accepted

Study Details

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.

Key Dates

Start date
Apr 25, 2022
Status verified
Mar 2026
Primary completion
Apr 29, 2027
Completion
Apr 29, 2027

Study Design

Enrollment
200 participants (estimated)

Primary Outcome Measure

Identify Genetic Findings [ Time Frame: An average of 1 year ]

Central Contacts

Locations (1)

FacilityCityStateZIPSite coordinators
Boston Children's HospitalBostonMassachusetts02115
Amy Tam
[email protected]
617-355-2698

Find similar trials in Boston, MA

By research site
Boston Children's Hospital· Boston, MA

Related Studies