Registry and Natural History Study for Early Onset Hereditary Spastic Paraplegia

NCT04712812 | Recruiting

• 1 other identifier: P00033016
• Study Type: observational
• Target: 700
• Locations: 1 country
• Sites: 1

Brief Summary

The Registry and Natural History Study for Early Onset Hereditary Spastic Paraplegia (HSP) is focused on gathering longitudinal clinical data as well as biological samples (skin and/or blood and/or saliva) from male and female patients, under the age of 30, who exhibited early onset symptoms of HSP with (1) a clinical diagnosis of hereditary spastic paraplegia and (2) the presence of variants in HSP related genes and/or be a relative of a person with such a diagnosis. Currently, the treatment for this disorder is generally symptomatic and available therapies improve quality of life, but are grossly inefficient in slowing the disease progression. Access to the registry information will be limited to the study staff who are responsible for recruitment and maintenance of the registry. We hope that recruitment into the registry for studies will advance knowledge of the causes, clinical course, diagnosis, and treatment of these conditions.

Conditions

Hereditary Spastic Paraplegia; SPG47; SPG50; SPG51; SPG52; AP4-related Hereditary Spastic Paraplegia; Early Onset Hereditary Spastic Paraplegia; SPG4; SPG3A; SPG15; SPG11

Keywords

AP4-HSP; AP4; SPG; AP-4; AP-4-HSP; Spastic Paraplegia; Adapter Protein 4; HSP; Early onset; Early onset HSP

Outcome Measures

Primary Outcomes (4)

• Establishment of disease spectrum

  Establish the disease spectrum through a cross-sectional analysis of clinical, imaging and molecular data

  Through study completion, an average of 1 year

• Establishment of longitudinal data

  Establish the natural history of early-onset HSP through longitudinal clinician- and patient-reported outcome measures

  Through study completion, an average of 1 year

• Creation of biorepository

  Create a biorepository (blood samples, fibroblasts, induced pluripotent stem cells)

  Through study completion, an average of 1 year

• Creation of patient registry

  Create a registry that allows for re-identification and re-contact of participants by appropriate investigators

  Through study completion, an average of 1 year

Study Arms (1)

Proband with Hereditary Spastic Paraplegia

The study population consists of male and female patients up to the age of 30 years old with a clinical and molecular diagnosis of hereditary spastic paraplegia and/or their family members of interest (if applicable).

Eligibility Criteria

• Age: Up to 30 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64)
• Sampling Method: Non-Probability Sample

Study Population

The study population consists of male and female patients up to the age of 30 years old with a clinical and molecular diagnosis of hereditary spastic paraplegia and/or their family members of interest (if applicable).

You may qualify if:

• Onset of hereditary spastic paraplegia symptoms before the age of 18 years
• Under the age of 30 years old
• Must have a genetically confirmed variant in HSP-related genes and a relative of an individual with a confirmed diagnosis (if applicable).

You may not qualify if:

• Not having such a diagnosis and/or not being related to such individual

Sponsors & Collaborators

• Boston Children's Hospital: lead

Study Sites (1)

Boston Children's Hospital

Boston, Massachusetts, 02115, United States

RECRUITING

Related Publications (2)

• Agianda HAP, Kim HM, Battaglia N, Rong J, Tam A, Gonzalez Saez-Diez E, Boerkoel CF, Saffari A, Quiroz V, Schierbaum L, Zaman Z, Bernardi K, Ebrahimi-Fakhari D. Diagnostic Utility of the ATG9A Ratio in AP-4-Associated Hereditary Spastic Paraplegia. Ann Clin Transl Neurol. 2026 Jan 5. doi: 10.1002/acn3.70308. Online ahead of print.

  PMID: 41491634 DERIVED

• Schmidt HJD, Battaglia N, Rong J, Tam A, Carty S, Quiroz V, Yang K, Zaman Z, Schierbaum L, Bernardi K, Alecu JE, Ebrahimi-Fakhari D. Health-Related Quality of Life in Rare Forms of Childhood-Onset Hereditary Spastic Paraplegia. Ann Clin Transl Neurol. 2026 Jan;13(1):193-199. doi: 10.1002/acn3.70244. Epub 2025 Nov 6.

  PMID: 41199121 DERIVED

MeSH Terms

Conditions

Spastic Paraplegia, Hereditary; Spastic paraplegia 3, autosomal dominant; Paraplegia

Condition Hierarchy (Ancestors)

Hereditary Sensory and Motor Neuropathy; Nervous System Malformations; Nervous System Diseases; Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Polyneuropathies; Peripheral Nervous System Diseases; Neuromuscular Diseases; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Genetic Diseases, Inborn; Paralysis; Neurologic Manifestations; Signs and Symptoms; Pathological Conditions, Signs and Symptoms

Central Study Contacts

Darius Ebrahimi-Fakhari, MD, PhD

CONTACT

617-355-6388; hsp.research@childrens.harvard.edu

Nicole Battaglia, BS

CONTACT

hsp.research@childrens.harvard.edu

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Target Duration: 4 Years
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Director, Movement Disorders Program

Study Record Dates

• First Submitted: January 12, 2021
• First Posted: January 15, 2021
• Study Start: April 27, 2020
• Primary Completion (Estimated): December 31, 2030
• Study Completion (Estimated): December 31, 2030
• Last Updated: March 18, 2026

Record last verified: 2026-03

Locations

US (1)