Hereditary Spastic Paraplegia Genomic Sequencing Initiative (HSPseq)

NCT05354622 | Recruiting

• 1 other identifier: P00039630
• Study Type: observational
• Target: 200
• Locations: 1 country
• Sites: 1

Brief 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.

Conditions

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

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

Outcome Measures

Primary Outcomes (2)

• Identify Genetic Findings

  Identifying genetic variants in patients with progressive spastic paraplegia

  An average of 1 year

• Correlating Genetic Findings with HSP Phenotypes

  Comparing phenotype/genotype associations via genome wide scanning

  An average of 1 year

Eligibility Criteria

• Age: 1 Month - 30 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)
• Sampling Method: Non-Probability Sample

Study Population

Male or female, under 30 years, with suspected HSP

You may qualify if:

• Clinical diagnosis of progressive spasticity

Sponsors & Collaborators

• Boston Children's Hospital: lead

Study Sites (1)

Boston Children's Hospital

Boston, Massachusetts, 02115, United States

RECRUITING

Biospecimen

Retention: SAMPLES WITH DNA

Blood sample or Buccal Swab

MeSH Terms

Conditions

Spastic Paraplegia, Hereditary; Neurodegenerative Diseases; Muscle Spasticity; Motor Neuron Disease; Movement Disorders; Spastic paraplegia 3, autosomal dominant; Spastic paraplegia 26, autosomal recessive; Genetic Diseases, Inborn; Neurodevelopmental Disorders; Musculoskeletal Diseases

Condition Hierarchy (Ancestors)

Hereditary Sensory and Motor Neuropathy; Nervous System Malformations; Nervous System Diseases; Heredodegenerative Disorders, Nervous System; Polyneuropathies; Peripheral Nervous System Diseases; Neuromuscular Diseases; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Muscular Diseases; Muscle Hypertonia; Neuromuscular Manifestations; Neurologic Manifestations; Signs and Symptoms; Pathological Conditions, Signs and Symptoms; Central Nervous System Diseases; Mental Disorders

Study Officials

• Darius Ebrahimi-Fakhari, MD, PhD

  Boston Children's Hospital

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Darius Ebrahimi-Fakhari, MD, PhD

CONTACT

617-355-8356; hsp.research@childrens.harvard.edu

Amy Tam, BS

CONTACT

617-355-2698; hsp.research@childrens.harvard.edu

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Target Duration: 5 Years
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Principal Investigator

Study Record Dates

• First Submitted: April 26, 2022
• First Posted: April 29, 2022
• Study Start: April 25, 2022
• Primary Completion (Estimated): April 29, 2027
• Study Completion (Estimated): April 29, 2027
• Last Updated: March 18, 2026

Record last verified: 2026-03

Locations

US (1)