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Hereditary Spastic Paraplegia Genomic Sequencing Initiative (HSPseq)

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ClinicalTrials.gov Identifier: NCT05354622
Recruitment Status : Recruiting
First Posted : April 29, 2022
Last Update Posted : August 8, 2022
Sponsor:
Collaborator:
Boston Children's Hospital - Children's Rare Disease Cohorts Initiative
Information provided by (Responsible Party):
Darius Ebrahimi-Fakhari, Boston Children's Hospital

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.


Condition or disease
Hereditary Spastic Paraplegia Neurodegenerative Diseases Pediatric Disorder Spasticity, Muscle Motor Neuron Disease Movement Disorders

Detailed Description:

The hereditary spastic paraplegias (HSP) are a group of more than 80 inherited neurogenetic 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.

The clinical diagnosis of HSP does not suggest anything about its molecular cause, with a wide range of outcomes dependent on the gene affected. The recent advances in HSP genetics speak to the importance of the field and the need for a more detailed study. Moreover, the relations between clinical features and genetic mechanisms are not well understood.

Given the influence of genetics on the likelihood of developing HSP as well as the complexity and diversity of the phenotypes, progress in HSP genetics will require efforts looking at relatively large samples of the HSP population. By bringing together very detailed phenotype information with high resolution DNA analyses, and using new approaches for comparing sequence information in candidate genes or looking for phenotype/genotype associations via genome-wide scanning, the investigators aim to be a leader in this emerging area of HSP research.

The aims of this study include:

  1. To identify genetic findings (single nucleotide changes or copy number variants) in patients with progressive spastic paraplegia and related disorders.
  2. To correlate molecular findings with HSP phenotypes.

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Study Type : Observational [Patient Registry]
Estimated Enrollment : 200 participants
Observational Model: Cohort
Time Perspective: Prospective
Target Follow-Up Duration: 5 Years
Official Title: Investigating the Genetic Basis of Hereditary Spastic Paraplegia
Actual Study Start Date : April 25, 2022
Estimated Primary Completion Date : April 29, 2027
Estimated Study Completion Date : April 29, 2027





Primary Outcome Measures :
  1. Identify Genetic Findings [ Time Frame: An average of 1 year ]
    Identifying genetic variants in patients with progressive spastic paraplegia

  2. Correlating Genetic Findings with HSP Phenotypes [ Time Frame: An average of 1 year ]
    Comparing phenotype/genotype associations via genome wide scanning


Biospecimen Retention:   Samples With DNA
Blood sample or Buccal Swab


Information from the National Library of Medicine

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Ages Eligible for Study:   1 Month to 30 Years   (Child, Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Male or female, under 30 years, with suspected HSP
Criteria

Inclusion Criteria:

  • Clinical diagnosis of progressive spasticity

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT05354622


Contacts
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Contact: Darius Ebrahimi-Fakhari, MD, PhD 617-355-8356 Darius.Ebrahimi-Fakhari@childrens.harvard.edu
Contact: Catherine Jordan, BA, MA 617-355-2698 Catherine.Jordan@childrens.harvard.edu

Locations
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United States, Massachusetts
Boston Children's Hospital Recruiting
Boston, Massachusetts, United States, 02115
Contact: Catherine Jordan    617-355-2698    Catherine.Jordan@childrens.harvard.edu   
Sponsors and Collaborators
Boston Children's Hospital
Boston Children's Hospital - Children's Rare Disease Cohorts Initiative
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Responsible Party: Darius Ebrahimi-Fakhari, Principal Investigator, Boston Children's Hospital
ClinicalTrials.gov Identifier: NCT05354622    
Other Study ID Numbers: P00039630
First Posted: April 29, 2022    Key Record Dates
Last Update Posted: August 8, 2022
Last Verified: August 2022

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by Darius Ebrahimi-Fakhari, Boston Children's Hospital:
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
Additional relevant MeSH terms:
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Muscle Spasticity
Movement Disorders
Neurodegenerative Diseases
Paraplegia
Motor Neuron Disease
Amyotrophic Lateral Sclerosis
Spastic Paraplegia, Hereditary
Disease
Pathologic Processes
Muscular Diseases
Musculoskeletal Diseases
Muscle Hypertonia
Neuromuscular Manifestations
Neurologic Manifestations
Nervous System Diseases
Central Nervous System Diseases
Paralysis
Neuromuscular Diseases
Spinal Cord Diseases
TDP-43 Proteinopathies
Proteostasis Deficiencies
Metabolic Diseases
Hereditary Sensory and Motor Neuropathy
Nervous System Malformations
Heredodegenerative Disorders, Nervous System
Polyneuropathies
Peripheral Nervous System Diseases
Congenital Abnormalities
Genetic Diseases, Inborn