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Search / Trial NCT05354622

Hereditary Spastic Paraplegia Genomic Sequencing Initiative (HSPseq)

Launched by BOSTON CHILDREN'S HOSPITAL · Apr 26, 2022

Trial Information

Current as of June 26, 2025

Recruiting

Keywords

Hereditary Spastic Paraplegia Neurodegenerative Disease Spasticity Spg3a Spg4 Spg11 Spg15 Spg26 Spg47 Spg50 Spg51 Spg52 Complex Hereditary Spastic Paraplegia Early Onset Hereditary Spastic Paraplegia Movement Disorder Adaptor Protein Complex 4 Neurogenetic Disorder Genetic Disease Muscle Spasticity Neurodevelopmental Disorders Musculoskeletal Disease

ClinConnect Summary

The Hereditary Spastic Paraplegia Genomic Sequencing Initiative (HSPseq) is a clinical trial focused on understanding how genetics play a role in hereditary spastic paraplegia (HSP) and related disorders. HSP is a group of more than 80 inherited diseases that cause progressive stiffness and weakness in the legs. Many children with this condition experience vague symptoms at first, leading to delays in diagnosis. The researchers aim to identify specific genetic factors that contribute to HSP, which could eventually lead to better treatments tailored to different types of the condition.

To participate in this study, individuals aged 30 and older who have been clinically diagnosed with progressive spasticity may be eligible. Participants will undergo genetic testing to help researchers learn more about the genetic causes of HSP. This study is currently recruiting and welcomes participants of all genders. By taking part in this research, individuals can contribute to a greater understanding of HSP, which may improve diagnosis and treatment options in the future.

Gender

ALL

Eligibility criteria

  • Inclusion Criteria:
  • Clinical diagnosis of progressive spasticity

About Boston Children's Hospital

Boston Children's Hospital is a leading pediatric healthcare institution renowned for its commitment to advancing child health through innovative research and exceptional clinical care. As a prominent clinical trial sponsor, the hospital leverages its extensive expertise in pediatric medicine to conduct rigorous and ethically sound research studies aimed at improving treatment options and outcomes for children. With a collaborative approach that integrates cutting-edge technology and multidisciplinary teams, Boston Children's Hospital is dedicated to translating scientific discoveries into practical applications that enhance the well-being of young patients and their families.

Locations

Boston, Massachusetts, United States

Patients applied

0 patients applied

Trial Officials

Darius Ebrahimi-Fakhari, MD, PhD

Principal Investigator

Boston Children's Hospital

Timeline

First submit

Trial launched

Trial updated

Estimated completion

Not reported

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