Hereditary Spastic ParaplegiaHSPNCT04712812
Registry and Natural History Study for Early Onset Hereditary Spastic Paraplegia
An observational study of Hereditary Spastic Paraplegia and SPG47, run by Boston Children's Hospital at 1 site in United States.
Trial 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… Read more about this study
- Who is it for?
- Ages Up to 30 yearsHealthy volunteers can take part
- Conditions the study is for
- Hereditary Spastic Paraplegia, SPG47, SPG50
- How many people
- 700 participants
- Where
- 1 siteUnited States
- Study dates
- 27 Apr 2020to 31 Dec 2030
- How long will I take part?
- 4 Years
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Up to 30 years
- All sexes
- Healthy volunteers accepted
- Child, Adult
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).
Who may be able to join
- 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).
Who cannot join
- Not having such a diagnosis and/or not being related to such individual
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
Nicole Battaglia, BS contact
United States1 site, 1 recruiting
- Recruiting
Boston Children's Hospital
Boston, Massachusetts, 02115
Darius Ebrahimi-Fakhari, MD, PhD, 617-355-6388, Darius.Ebrahimi-Fakhari@childrens.harvard.edu
Nicole Battaglia, BS, hsp.research@childrens.harvard.edu
About this study
Official title: Registry and Natural History Study for Early Onset Hereditary Spastic Paraplegia (HSP)
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.
Read the detailed description
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:
- Establish the disease spectrum through a cross-sectional analysis of clinical, imaging and molecular data
- Establish the natural history of early-onset HSP through longitudinal clinician- and patient-reported outcome measures
- Create a biorepository (blood samples, fibroblasts, induced pluripotent stem cells)
- Create a registry that allows for re-identification and re-contact of participants by appropriate investigators
- Conditions
- Hereditary Spastic Paraplegia, SPG47, SPG50, SPG51, SPG52, AP4-related Hereditary Spastic Paraplegia
- Keywords
- AP4-HSP, AP4, SPG, AP-4, AP-4-HSP, Spastic Paraplegia, Adapter Protein 4, HSP, Early onset, Early onset HSP
- Medical subject headings
- Spastic Paraplegia, Hereditary, Spastic paraplegia 3, autosomal dominant, Paraplegia
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| 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). |
What is being measured
The primary outcome is the main question the study is designed to answer.
Establishment of disease spectrum
Establish the disease spectrum through a cross-sectional analysis of clinical, imaging and molecular data
Measured: 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
Measured: Through study completion, an average of 1 year
Creation of biorepository
Create a biorepository (blood samples, fibroblasts, induced pluripotent stem cells)
Measured: 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
Measured: Through study completion, an average of 1 year
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted15 Jan 2021
- Study start27 Apr 2020
- Primary completion31 Dec 2030 (estimated)
- Study completion31 Dec 2030 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (2)Papers the sponsor has linked to this study.
- Other trials for Hereditary Spastic ParaplegiaStudies of the same condition, open and under way.
- More trials run by Boston Children's HospitalThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 700 participants (estimated)
- Target duration
- 4 Years
Sponsor and investigators
- Lead sponsor
- Boston Children's Hospital
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Darius Ebrahimi-Fakhari, Boston Children's Hospital
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04712812
- Sponsor's protocol ID
- P00033016
- Acronym
- HSP
- Status last verified
- Mar 2026
- First submitted
- 12 Jan 2021
- Last updated
- 18 Mar 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Publications
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 Apr;13(4):834-839. doi: 10.1002/acn3.70308. Epub 2026 Jan 5.
PubMed 41491634Schmidt 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.
PubMed 41199121
Study at a glance
From the registry record, last updated by the sponsor on 18 Mar 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Registry and Natural History Study for Early Onset Hereditary Spastic Paraplegia (HSP)
- ClinicalTrials.gov ID
- NCT04712812
- Acronym / sponsor ID
- HSP / P00033016
- Conditions
- Hereditary Spastic Paraplegia, SPG47, SPG50, SPG51, SPG52, AP4-related Hereditary Spastic Paraplegia
- Keywords
- AP4-HSP, AP4, SPG, AP-4, AP-4-HSP, Spastic Paraplegia, Adapter Protein 4, HSP
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 700 participants (estimated)
- Lead sponsor
- Boston Children's HospitalUniversity, hospital or other
- Study start
- 27 Apr 2020 (actual)
- Primary completion
- 31 Dec 2030 (estimated)
- Study completion
- 31 Dec 2030 (estimated)
- First posted
- 15 Jan 2021 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Detailed description
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:
- Establish the disease spectrum through a cross-sectional analysis of clinical, imaging and molecular data
- Establish the natural history of early-onset HSP through longitudinal clinician- and patient-reported outcome measures
- Create a biorepository (blood samples, fibroblasts, induced pluripotent stem cells)
- Create a registry that allows for re-identification and re-contact of participants by appropriate investigators
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Target follow-up
- 4 Years
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| 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). |
Who may qualify
- Ages
- Up to 30 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult
- 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).
Key inclusion criteria (3 listed)
- 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).
Key exclusion criteria (1 listed)
- Not having such a diagnosis and/or not being related to such individual
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Establishment of disease spectrum
Time frame: Through study completion, an average of 1 year
Establish the disease spectrum through a cross-sectional analysis of clinical, imaging and molecular data
Establishment of longitudinal data
Time frame: Through study completion, an average of 1 year
Establish the natural history of early-onset HSP through longitudinal clinician- and patient-reported outcome measures
Creation of biorepository
Time frame: Through study completion, an average of 1 year
Create a biorepository (blood samples, fibroblasts, induced pluripotent stem cells)
Creation of patient registry
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
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 18 Mar 2026.
- Derived from this study: PubMed 41491634Agianda 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 Apr;13(4):834-839. doi: 10.1002/acn3.70308. Epub 2026 Jan 5.
- Derived from this study: PubMed 41199121Schmidt 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.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Nicole Battaglia, BS contact
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Hereditary Spastic Paraplegia and SPG47, run by Boston Children's Hospital at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 3 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 18 Mar 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Darius Ebrahimi-Fakhari, MD, PhD (617-355-6388, hsp.research@childrens.harvard.edu), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Establishment of disease spectrum (time frame: Through study completion, an average of 1 year). The study lists 4 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT04712812, which also lists 2 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 18 Mar 2026.