TECPR2NCT04485221
TECPR2 Observational Study
An observational study of TECPR2, run by University of Florida at 1 site in United States.
Trial summary
The purpose of this study is to learn more about the disease progression in patients with a TECPR2 mutation. Read more about this study
- Who is it for?
- Ages 18 months to 12 years
- Conditions the study is for
- TECPR2
- How many people
- 5 participants
- Where
- 1 siteUnited States
- Study dates
- 20 Jan 2021to 17 Aug 2023
- Phase
- Observational
- Are there results?
- None posted in the registry
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 18 months to 12 years
- All sexes
- No healthy volunteers
- Child
Study population: Children with TECPR2-Related disorder, confirmed by genetic mutation analysis and demonstrates clinical findings such as autophagy, developmental delay, hypotonia, or other positive findings.
Who may be able to join
- Written informed consent (and assent where appropriate) before any study procedures take place;
- Male or female;
- 18 months to 12 years old, at enrollment; and
- Have a diagnosis of TECPR2-Related disorder, as defined by biochemical criteria AND/OR genetic mutation analysis, AND demonstrate clinical findings such as autophagy, developmental delay, hypotonia, or other positive findings.
Who cannot join
- Subject is unable to comply with study requirements; or
- Have any other concurrent condition that, in the opinion of the investigator, would make the subject unsuitable for the study.
Trial locations and contacts
1 site in 1 country.
About this study
Official title: A Natural History Study in Children With a TECPR2 Mutation
The purpose of this study is to learn more about the disease progression in patients with a TECPR2 mutation.
Read the detailed description
A mutation in the tectonin beta-propeller repeat containing 2 (TECPR2) gene can disrupt the cellular process of autophagy resulting in neuronal cell death. This disruption leads to a form of spastic paraplegia with the additional disruption to involuntary body processes, such as respiration and thermoregulation. This study will provide valuable information about the natural progression of children with a TECPR2 mutation.
- Conditions
- TECPR2
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 |
|---|---|---|
| Children with a TECPR2 mutation | Children with a TECPR2 mutation, age 18 months to 12 years old. Assessments will include collection of genetic mutation reports, functional assessments, and questionnaires. There will be a singular blood draw and skin biopsy. |
What is being measured
The primary outcome is the main question the study is designed to answer.
Disease progression
This will be monitored through medical history, physical exams, and a neurological exam.
Measured: Baseline up to 24 months
Secondary outcomes (7)
Functional assessment: Gross Motor Function Measure
This evaluative measure of motor function is designed for quantifying change in the gross motor abilities of children.
Measured: Baseline up to 24 months
Functional assessment: Gross Motor Function Classification System
This measures the functional level of the patient based on their age.
Measured: Baseline up to 24 months
Functional assessment: Timed Tests
Timed tests for ambulant children will include time to run 10 meters, time to climb four stairs, and time to rise from the floor from supine.
Measured: Baseline up to 24 months
Functional assessment: Muscular Strength Testing
Muscle strength will be assessed for grip, pinch, quadriceps, hamstrings, biceps, and triceps.
Measured: Baseline up to 24 months
Functional assessment: Ankle Dorsiflexion Range of Motion
This measurement is used to evaluate the degree of ankle contracture in a participant.
Measured: Baseline up to 24 months
Patient Reported Outcomes: Pediatric Quality of Life Inventory
A questionnaire used for measuring health-related quality of life in healthy children and adolescents and those with acute and chronic illnesses.
Measured: Baseline up to 24 months
Patient Reported Outcomes: Pediatric Evaluation of Disability Inventory Computer Adaptive Test
This questionnaire measures the extent to which the caregiver or child takes responsibility for managing complex, multi-step life tasks.
Measured: Baseline up to 24 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted24 Jul 2020
- Study start20 Jan 2021
- Primary completion17 Aug 2023
- Study completion17 Aug 2023
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 TECPR2Studies of the same condition, open and under way.
- More trials run by University of FloridaThe 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
- 5 participants (actual)
Sponsor and investigators
- Lead sponsor
- University of Florida
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04485221
- Sponsor's protocol ID
- IRB202001737
- Status last verified
- Sep 2023
- First submitted
- 18 Jun 2020
- Last updated
- 11 Sep 2023
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Publications
Oz-Levi D, Gelman A, Elazar Z, Lancet D. TECPR2: a new autophagy link for neurodegeneration. Autophagy. 2013 May;9(5):801-2. doi: 10.4161/auto.23961. Epub 2013 Feb 25.
PubMed 23439247Oz-Levi D, Ben-Zeev B, Ruzzo EK, Hitomi Y, Gelman A, Pelak K, Anikster Y, Reznik-Wolf H, Bar-Joseph I, Olender T, Alkelai A, Weiss M, Ben-Asher E, Ge D, Shianna KV, Elazar Z, Goldstein DB, Pras E, Lancet D. Mutation in TECPR2 reveals a role for autophagy in hereditary spastic paraparesis. Am J Hum Genet. 2012 Dec 7;91(6):1065-72. doi: 10.1016/j.ajhg.2012.09.015. Epub 2012 Nov 21.
PubMed 23176824
Study at a glance
From the registry record, last updated by the sponsor on 11 Sep 2023. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Natural History Study in Children With a TECPR2 Mutation
- ClinicalTrials.gov ID
- NCT04485221
- Acronym / sponsor ID
- IRB202001737
- Conditions
- TECPR2
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 5 participants (actual)
- Lead sponsor
- University of FloridaUniversity, hospital or other
- Study start
- 20 Jan 2021 (actual)
- Primary completion
- 17 Aug 2023 (actual)
- Study completion
- 17 Aug 2023 (actual)
- First posted
- 24 Jul 2020 (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 purpose of this study is to learn more about the disease progression in patients with a TECPR2 mutation.
Detailed description
A mutation in the tectonin beta-propeller repeat containing 2 (TECPR2) gene can disrupt the cellular process of autophagy resulting in neuronal cell death. This disruption leads to a form of spastic paraplegia with the additional disruption to involuntary body processes, such as respiration and thermoregulation. This study will provide valuable information about the natural progression of children with a TECPR2 mutation.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Children with a TECPR2 mutation | – | –Children with a TECPR2 mutation, age 18 months to 12 years old. Assessments will include collection of genetic mutation reports, functional assessments, and questionnaires. There will be a singular blood draw and skin biopsy. |
Who may qualify
- Ages
- 18 months to 12 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child
- Study population
- Children with TECPR2-Related disorder, confirmed by genetic mutation analysis and demonstrates clinical findings such as autophagy, developmental delay, hypotonia, or other positive findings.
Key inclusion criteria (4 listed)
- Written informed consent (and assent where appropriate) before any study procedures take place;
- Male or female;
- 18 months to 12 years old, at enrollment; and
- Have a diagnosis of TECPR2-Related disorder, as defined by biochemical criteria AND/OR genetic mutation analysis, AND demonstrate clinical findings such as autophagy, developmental delay, hypotonia, or other positive findings.
Key exclusion criteria (2 listed)
- Subject is unable to comply with study requirements; or
- Have any other concurrent condition that, in the opinion of the investigator, would make the subject unsuitable for the study.
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
Disease progression
Time frame: Baseline up to 24 months
This will be monitored through medical history, physical exams, and a neurological exam.
7 secondary outcomes
Functional assessment: Gross Motor Function Measure
Time frame: Baseline up to 24 months
Functional assessment: Gross Motor Function Classification System
Time frame: Baseline up to 24 months
Functional assessment: Timed Tests
Time frame: Baseline up to 24 months
Functional assessment: Muscular Strength Testing
Time frame: Baseline up to 24 months
Functional assessment: Ankle Dorsiflexion Range of Motion
Time frame: Baseline up to 24 months
Patient Reported Outcomes: Pediatric Quality of Life Inventory
Time frame: Baseline up to 24 months
Patient Reported Outcomes: Pediatric Evaluation of Disability Inventory Computer Adaptive Test
Time frame: Baseline up to 24 months
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 11 Sep 2023.
- Background: PubMed 23439247Oz-Levi D, Gelman A, Elazar Z, Lancet D. TECPR2: a new autophagy link for neurodegeneration. Autophagy. 2013 May;9(5):801-2. doi: 10.4161/auto.23961. Epub 2013 Feb 25.
- Background: PubMed 23176824Oz-Levi D, Ben-Zeev B, Ruzzo EK, Hitomi Y, Gelman A, Pelak K, Anikster Y, Reznik-Wolf H, Bar-Joseph I, Olender T, Alkelai A, Weiss M, Ben-Asher E, Ge D, Shianna KV, Elazar Z, Goldstein DB, Pras E, Lancet D. Mutation in TECPR2 reveals a role for autophagy in hereditary spastic paraparesis. Am J Hum Genet. 2012 Dec 7;91(6):1065-72. doi: 10.1016/j.ajhg.2012.09.015. Epub 2012 Nov 21.
- Genetic home reference for TECPR2Link provided by the sponsor.
- Individual participant dataSharing planned: No
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. This study is not recruiting at the moment.
The record lists no contact. Use the official record to reach the sponsor.
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 TECPR2, run by University of Florida 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 4 inclusion and 2 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: finished, as of the sponsor's last update on 11 Sep 2023. 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?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Disease progression (time frame: Baseline up to 24 months). 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 NCT04485221, 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 11 Sep 2023.