NCT05354622

Hereditary Spastic Paraplegia Genomic Sequencing Initiative (HSPseq)

Recruiting now Last updated 18 March 2026

What this trial tests

trial in Hereditary Spastic Paraplegia in 200 participants. Currently enrolling.

Timeline

25 April 2022

Primary endpoint
29 April 2027

29 April 2027

Quick facts

Lead sponsor	Boston Children's Hospital
Status	Recruiting now
Study type	OBSERVATIONAL
Enrollment	200
Start date	25 April 2022
Primary completion	29 April 2027
Estimated completion	29 April 2027
Sites	1 location across United States

Conditions studied

• Hereditary Spastic Paraplegia — all drugs for Hereditary Spastic Paraplegia →
• Neurodegenerative Diseases — all drugs for Neurodegenerative Diseases →
• Pediatric Disorder — all drugs for Pediatric Disorder →
• Spasticity, Muscle — all drugs for Spasticity, Muscle →

Sponsor

Boston Children's Hospital

Who can join

Adults 1 Month to 30, any sex, with Hereditary Spastic Paraplegia or Neurodegenerative Diseases. Patients with the condition only — healthy volunteers not accepted.

Sponsor's own description

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.

Publications & conference data

3 peer-reviewed publications reference this trial (live from Europe PMC):

1. Biallelic Variants in COQ4 Cause Childhood-Onset Pure Hereditary Spastic Paraplegia.
   Schierbaum L, Quiroz V, Tam A, Zubair U, et al · · 2024 · cited 2× · PMID 39367686 · DOI 10.1002/mdc3.14226
2. STUB1-Associated Autosomal-Recessive Spinocerebellar Ataxia Type 16 (SCAR16) Presenting with Gordon-Holmes Syndrome Caused by Maternal Uniparental Isodisomy.
   Agianda HAP, Tam A, Kunta A, Zubair U, et al · · 2025 · PMID 39728009 · DOI 10.1002/mdc3.14322
3. Case Report of Friedreich's Ataxia and ALG1 -Related Biochemical Abnormalities in a Patient With Progressive Spastic Paraplegia.
   Quinlan A, Rodan L, Barkoudah E, Tam A, et al · · 2025 · PMID 39324476 · DOI 10.1002/ajmg.a.63890