Registry and Natural History Study for Early Onset Hereditary Spastic Paraplegia (HSP)
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ClinicalTrials.gov Identifier: NCT04712812 |
Recruitment Status :
Recruiting
First Posted : January 15, 2021
Last Update Posted : September 7, 2023
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Condition or disease |
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Hereditary Spastic Paraplegia SPG47 SPG50 SPG51 SPG52 AP4-related Hereditary Spastic Paraplegia Early Onset Hereditary Spastic Paraplegia SPG4 SPG3A SPG15 SPG11 |
The hereditary spastic paraplegias (HSP) are a group of more than 80 neurodegenerative diseases that lead to progressive neurological decline. Collectively, the HSPs present the most common cause of inherited spasticity and associated disability.
We aim to delineate the core clinical, imaging, and molecular features of pediatric onset hereditary spastic paraplegia. This registry and natural history study will facilitate an early diagnosis, enables counseling and anticipatory guidance of affected families and will help define clinically meaningful endpoints for future interventional trials. Samples will be collected for the purpose of molecular and cellular investigation that will help identify biomarkers and novel targets for therapy. The samples and clinical information will be housed in the Translational Neuroscience Center and a secure REDcap database, respectively; both located in Boston Children's Hospital (BCH), but will be available to investigators around the world after approval.
The objectives of this protocol are to (1) To systematically document the clinical presentation and natural history of early-onset forms of HSP and (2) To facilitate an early diagnosis, enable counseling and anticipatory guidance of affected families and help define clinically meaningful endpoints for future interventional traits.
Specifically, the aims are to:
- Create a registry to perform an initial cross sectional analysis of clinical, imaging and molecular data to establish the disease spectrum.
- Create a repository of biological samples and collection of longitudinal clinical data that helps establish the natural history of early onset HSP.
- Create a registry that allows for re- identification and re-contact of participants by appropriate investigators.
Study Type : | Observational [Patient Registry] |
Estimated Enrollment : | 400 participants |
Observational Model: | Cohort |
Time Perspective: | Prospective |
Target Follow-Up Duration: | 4 Years |
Official Title: | Registry and Natural History Study for Early Onset Hereditary Spastic Paraplegia (HSP) |
Actual Study Start Date : | April 27, 2020 |
Estimated Primary Completion Date : | April 26, 2024 |
Estimated Study Completion Date : | April 26, 2025 |
Group/Cohort |
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Proband with AP-4 Associated HSP
Male or female patients of all ages with (1) onset of hereditary spastic paraplegia symptoms before the age of 18 years and/or (2) the presence of variants in HSP related genes and/or a relative of a person with such a diagnosis.
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- Establishment of data repository [ Time Frame: Through study completion, an average of 1 year ]Create a registry to perform an initial cross sectional analysis of clinical, imaging and molecular data to establish the disease spectrum.
- Establishment of bio-repository [ Time Frame: Through study completion, an average of 1 year ]Create a repository of biological samples and collection of longitudinal clinical data that helps establish the natural history of early onset HSP.
- Registry for recontact [ Time Frame: Through study completion, an average of 1 year ]Create a registry that allows for re-identification and re-contact of participants by appropriate investigators.
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Ages Eligible for Study: | 30 Days and older (Child, Adult, Older Adult) |
Sexes Eligible for Study: | All |
Accepts Healthy Volunteers: | Yes |
Sampling Method: | Non-Probability Sample |
Inclusion Criteria:
- Onset of hereditary spastic paraplegia symptoms before the age of 18 years
- The presence of variants in HSP related genes and/or a relative of a person with such a diagnosis
Exclusion Criteria:
- Not having such a diagnosis and/or not being related to such individual
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): NCT04712812
Contact: Darius Ebrahimi-Fakhari, MD, PhD | 617-355-6388 | hsp.research@childrens.harvard.edu | |
Contact: Amy Tam, BS | 617-355-2698 | hsp.research@childrens.harvard.edu |
United States, Massachusetts | |
Boston Children's Hospital | Recruiting |
Boston, Massachusetts, United States, 02115 | |
Contact: Darius Ebrahimi-Fakhari, MD, PhD 617-355-6388 Darius.Ebrahimi-Fakhari@childrens.harvard.edu | |
Contact: Amy Tam, BS 16173552698 amy.tam@childrens.harvard.edu | |
Principal Investigator: Darius Ebrahimi-Fakhari, MD, PhD |
Responsible Party: | Darius Ebrahimi-Fakhari, Director, Movement Disorders Program, Boston Children's Hospital |
ClinicalTrials.gov Identifier: | NCT04712812 |
Other Study ID Numbers: |
P00033016 |
First Posted: | January 15, 2021 Key Record Dates |
Last Update Posted: | September 7, 2023 |
Last Verified: | September 2023 |
Studies a U.S. FDA-regulated Drug Product: | No |
Studies a U.S. FDA-regulated Device Product: | No |
AP4-HSP AP4 SPG AP-4 AP-4-HSP |
Spastic Paraplegia Adapter Protein 4 HSP Early onset Early onset HSP |
Muscle Spasticity Paraplegia Spastic Paraplegia, Hereditary Muscular Diseases Musculoskeletal Diseases Muscle Hypertonia Neuromuscular Manifestations Neurologic Manifestations Nervous System Diseases Paralysis |
Hereditary Sensory and Motor Neuropathy Nervous System Malformations Heredodegenerative Disorders, Nervous System Neurodegenerative Diseases Polyneuropathies Peripheral Nervous System Diseases Neuromuscular Diseases Congenital Abnormalities Genetic Diseases, Inborn |