Tuberous SclerosisGAGANCT05161494
Gait in Rare Diseases
An observational study of Tuberous Sclerosis and STXBP1 Encephalopathy With Epilepsy, run by Universiteit Antwerpen at 1 site in Belgium.
Trial summary
The aim of this pilot study is to explore whether the knowledge and experience gained during the T-GaiD project (Treatment of Gait Disorders in Dravet Syndrome - NCT03857451) can be transferred to other populations with similar problems, i.e. Read more about this study
- Who is it for?
- Ages 6 to 25 years
- Conditions the study is for
- Tuberous Sclerosis, STXBP1 Encephalopathy With Epilepsy
- How many people
- 41 participants
- Where
- 1 siteBelgium
- Study dates
- 25 Jan 2022to 30 Jan 2026
- 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 6 to 25 years
- All sexes
- No healthy volunteers
- Child, Adult
Study population: Children, adolescents and young adults diagnosed with Tuberous Sclerosis Complex in Belgium
Who may be able to join
- diagnosed with tuberous sclerosis complex according to the criteria of Northrup et al. (2012)
- aged 6 years or older
- being able to walk without aids for a minimum distance of 6 meters
Who cannot join
- severe epileptic seizure (status epilepticus or tonic-clonic insult over 3 min) within the 24 hours before the assessment
- insufficient cooperation to perform 3D gait analysis
Trial locations and contacts
1 site in 1 country.
About this study
Official title: Identification of Gait Disorders in Children, Adolescents and Young Adults With Rare Genetic Diseases
The aim of this pilot study is to explore whether the knowledge and experience gained during the T-GaiD project (Treatment of Gait Disorders in Dravet Syndrome - NCT03857451) can be transferred to other populations with similar problems, i.e. motor and gait problems as a result of a genetic disorder characterized by epilepsy and developmental delay. In this pilot study, 40 people with Tuberous Sclerosis Complex and 30 people with STXBP1 will be recruited via the Antwerp University Hospital and invited for a gait analysis in the M²OCEAN movement lab. The aim of the pilot study is to evaluate the feasibility of the 3D gait analysis protocol and to determine the sensitivity of the primary (summative measure of the severity of gait abnormalities) and the secondary (spatio-temporal and kinematic gait parameters) outcome measures.
Read the detailed description
Neurodevelopmental disorders are a group of rare disorders that usually have a genetic cause, each characterized by specific clinical features. Tuberous Sclerosis Complex (TSC or Bourneville's disease), for example, is characterized by the formation of benign tumors, which can develop in almost all organs and tissues. The symptoms vary greatly from person to person, also within one and the same family. Some patients show only limited skin abnormalities, other patients have more affected organs and sometimes become heavily dependent on help. The group of developmental and epileptic encephalopathies (DEE) are genetic neurological disorders that are characterized by epileptic seizures, which usually occur at a (very) young age, and a developmental delay that often leads to an intellectual disability. STXBP1 encephalopathy (STXBP1-E) is an example of an DEE where, in addition to epileptic seizures and developmental delay, motor disorders and gait abnormalities are also frequently seen.
To date, very little is known about motor development in children with TSC and DEE such as STXBP1-RD. Prospective research in the EPISTOP cohort showed that motor development is often delayed in the first years of life, especially in children who also show characteristics of. In clinical practice, we observe progressively increasing gait problems in a number of children that can lead to loss of autonomous steps at a young adult age. A recent study in adult patients with STXBP1-RD showed that about half of the patients were able to walk in adulthood and that those who could walk often had significant gait problems, which appear to be multifactorial in nature.
The ultimate goal of this project is to characterize gait patterns in children, adolescents and young adults with rare genetic disorders, in order to gain new insights into the pathomechanisms of motor and mobility problems. In the long run, these insights will be indispensable for providing an adequate, scientifically substantiated treatment to reduce and, if possible, prevent the gait disorders.
- Keywords
- gait, movement disorders, biomechanics, kinematics
- Medical subject headings
- Tuberous Sclerosis, Epileptic Encephalopathy, Early Infantile, 4, Movement Disorders
What is being measured
The primary outcome is the main question the study is designed to answer.
Gait Profile Score (degrees)
To obtain a summary index of overall gait pathology, the Gait Profile Score will be calculated based on nine relevant lower limb joint angular time profiles collected during 3D gait analysis. These are anterior pelvic tilt, pelvic list, pelvic rotation, hip flexion and extension, hip ad- and abduction, hip rotation, knee flexion and extension, ankle dorsi- and plantar flexion and the foot progression angle. The gait profile score provides the average root mean squared error of the joint angular time profile with respect to normal walking and is presented in degrees. Higher values indicate a larger deviations from normal gait.
Measured: baseline (at intake)
Secondary outcomes (3)
Lower limb kinematics during walking (degrees)
The gait pattern is assessed by instrumented 3D gait analysis using the standardized Vicon Clinical Gait Model. Joint rotation angles of the major joints of the lower limbs will be described during walking.
Measured: baseline (at intake)
Functional Mobility Scale
Functional mobility will be assessed during parent interview using the Functional Mobility Scale (FMS). The FMS is a 6-point scale with maximum score of 6 being the most functional outcome (independent on all surfaces) and minimum score of 1 being the least functional outcome (uses wheelchair)
Measured: baseline (at intake)
Mobility Questionnaire 28
Mobility limitations during daily activities inside and outside of the house will be assessed during parent interview using the validated Dutch translation of the Mobility Questionnaire 28 (MobQuest28), Dutch version: MobiliteitsVragenlijst 28 (MoVra28). The MobQuest28/MoVra28 consists of 28 items with a 5-point rating scale (0 = without any difficulties to 4 = impossible without help). A total score (0-100) indicates the mobility limitations.
Measured: baseline (at intake)
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted17 Dec 2021
- Study start25 Jan 2022
- Primary completion1 Jul 2025
- Study completion30 Jan 2026
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (11)Papers the sponsor has linked to this study.
- Other trials for Tuberous SclerosisStudies of the same condition, open and under way.
- 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
- 41 participants (actual)
Sponsor and investigators
- Lead sponsor
- Universiteit Antwerpen
- Sponsor type
- University, hospital or other
- Collaborators
- University Hospital, Antwerp
- Responsible party
- Principal investigator, Ann Hallemans, Universiteit Antwerpen
- Investigators
- Anna Jansen, MD, PhD, Principal investigator, University Hospital, Antwerp
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05161494
- Sponsor's protocol ID
- 2290
- Acronym
- GAGA
- Status last verified
- Apr 2026
- First submitted
- 30 Nov 2021
- Last updated
- 7 May 2026
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided
Publications
Dallmeijer AJ, Scholtes VA, Becher J, Roorda LD. Measuring mobility limitations in children with cerebral palsy: Rasch model fit of a mobility questionnaire, MobQues28. Arch Phys Med Rehabil. 2011 Apr;92(4):640-5. doi: 10.1016/j.apmr.2010.11.002.
PubMed 21440711Desloovere K, Molenaers G, Feys H, Huenaerts C, Callewaert B, Van de Walle P. Do dynamic and static clinical measurements correlate with gait analysis parameters in children with cerebral palsy? Gait Posture. 2006 Nov;24(3):302-13. doi: 10.1016/j.gaitpost.2005.10.008. Epub 2005 Nov 21.
PubMed 16303305Graham HK, Harvey A, Rodda J, Nattrass GR, Pirpiris M. The Functional Mobility Scale (FMS). J Pediatr Orthop. 2004 Sep-Oct;24(5):514-20. doi: 10.1097/00004694-200409000-00011.
PubMed 15308901Hallemans A, Beccu S, Van Loock K, Ortibus E, Truijen S, Aerts P. Visual deprivation leads to gait adaptations that are age- and context-specific: I. Step-time parameters. Gait Posture. 2009 Jul;30(1):55-9. doi: 10.1016/j.gaitpost.2009.02.018. Epub 2009 Apr 1.
PubMed 19342241Hallemans A, Beccu S, Van Loock K, Ortibus E, Truijen S, Aerts P. Visual deprivation leads to gait adaptations that are age- and context-specific: II. Kinematic parameters. Gait Posture. 2009 Oct;30(3):307-11. doi: 10.1016/j.gaitpost.2009.05.017. Epub 2009 Jun 27.
PubMed 19560925Hallemans A, Verbecque E, Dumas R, Cheze L, Van Hamme A, Robert T. Developmental changes in spatial margin of stability in typically developing children relate to the mechanics of gait. Gait Posture. 2018 Jun;63:33-38. doi: 10.1016/j.gaitpost.2018.04.019. Epub 2018 Apr 18.
PubMed 29705520Kadaba MP, Ramakrishnan HK, Wootten ME. Measurement of lower extremity kinematics during level walking. J Orthop Res. 1990 May;8(3):383-92. doi: 10.1002/jor.1100080310.
PubMed 2324857Meyns P, Van de Walle P, Desloovere K, Janssens S, Van Sever S, Hallemans A. Age-related differences in interlimb coordination during typical gait: An observational study. Gait Posture. 2020 Sep;81:109-115. doi: 10.1016/j.gaitpost.2020.07.013. Epub 2020 Jul 17.
PubMed 32707402Moavero R, Benvenuto A, Emberti Gialloreti L, Siracusano M, Kotulska K, Weschke B, Riney K, Jansen FE, Feucht M, Krsek P, Nabbout R, Jansen AC, Wojdan K, Borkowska J, Sadowski K, Hertzberg C, Hulshof H, Samueli S, Benova B, Aronica E, Kwiatkowski DJ, Lagae L, Jozwiak S, Curatolo P. Early Clinical Predictors of Autism Spectrum Disorder in Infants with Tuberous Sclerosis Complex: Results from the EPISTOP Study. J Clin Med. 2019 Jun 3;8(6):788. doi: 10.3390/jcm8060788.
PubMed 31163675Northrup H, Krueger DA; International Tuberous Sclerosis Complex Consensus Group. Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 Iinternational Tuberous Sclerosis Complex Consensus Conference. Pediatr Neurol. 2013 Oct;49(4):243-54. doi: 10.1016/j.pediatrneurol.2013.08.001.
PubMed 24053982Wyers L, Verheyen K, Ceulemans B, Schoonjans AS, Desloovere K, Van de Walle P, Hallemans A. The mechanics behind gait problems in patients with Dravet Syndrome. Gait Posture. 2021 Feb;84:321-328. doi: 10.1016/j.gaitpost.2020.12.029. Epub 2020 Dec 31.
PubMed 33445141
Study at a glance
From the registry record, last updated by the sponsor on 7 May 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Identification of Gait Disorders in Children, Adolescents and Young Adults With Rare Genetic Diseases
- ClinicalTrials.gov ID
- NCT05161494
- Acronym / sponsor ID
- GAGA / 2290
- Keywords
- gait, movement disorders, biomechanics, kinematics
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 41 participants (actual)
- Lead sponsor
- Universiteit AntwerpenUniversity, hospital or other
- Collaborators
- University Hospital, Antwerp
- Study start
- 25 Jan 2022 (actual)
- Primary completion
- 1 Jul 2025 (actual)
- Study completion
- 30 Jan 2026 (actual)
- First posted
- 17 Dec 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 aim of this pilot study is to explore whether the knowledge and experience gained during the T-GaiD project (Treatment of Gait Disorders in Dravet Syndrome - NCT03857451) can be transferred to other populations with similar problems, i.e. motor and gait problems as a result of a genetic disorder characterized by epilepsy and developmental delay. In this pilot study, 40 people with Tuberous Sclerosis Complex and 30 people with STXBP1 will be recruited via the Antwerp University Hospital and invited for a gait analysis in the M²OCEAN movement lab. The aim of the pilot study is to evaluate the feasibility of the 3D gait analysis protocol and to determine the sensitivity of the primary (summative measure of the severity of gait abnormalities) and the secondary (spatio-temporal and kinematic gait parameters) outcome measures.
Detailed description
Neurodevelopmental disorders are a group of rare disorders that usually have a genetic cause, each characterized by specific clinical features. Tuberous Sclerosis Complex (TSC or Bourneville's disease), for example, is characterized by the formation of benign tumors, which can develop in almost all organs and tissues. The symptoms vary greatly from person to person, also within one and the same family. Some patients show only limited skin abnormalities, other patients have more affected organs and sometimes become heavily dependent on help. The group of developmental and epileptic encephalopathies (DEE) are genetic neurological disorders that are characterized by epileptic seizures, which usually occur at a (very) young age, and a developmental delay that often leads to an intellectual disability. STXBP1 encephalopathy (STXBP1-E) is an example of an DEE where, in addition to epileptic seizures and developmental delay, motor disorders and gait abnormalities are also frequently seen.
To date, very little is known about motor development in children with TSC and DEE such as STXBP1-RD. Prospective research in the EPISTOP cohort showed that motor development is often delayed in the first years of life, especially in children who also show characteristics of. In clinical practice, we observe progressively increasing gait problems in a number of children that can lead to loss of autonomous steps at a young adult age. A recent study in adult patients with STXBP1-RD showed that about half of the patients were able to walk in adulthood and that those who could walk often had significant gait problems, which appear to be multifactorial in nature.
The ultimate goal of this project is to characterize gait patterns in children, adolescents and young adults with rare genetic disorders, in order to gain new insights into the pathomechanisms of motor and mobility problems. In the long run, these insights will be indispensable for providing an adequate, scientifically substantiated treatment to reduce and, if possible, prevent the gait disorders.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
Who may qualify
- Ages
- 6 to 25 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
- Study population
- Children, adolescents and young adults diagnosed with Tuberous Sclerosis Complex in Belgium
Key inclusion criteria (3 listed)
- diagnosed with tuberous sclerosis complex according to the criteria of Northrup et al. (2012)
- aged 6 years or older
- being able to walk without aids for a minimum distance of 6 meters
Key exclusion criteria (2 listed)
- severe epileptic seizure (status epilepticus or tonic-clonic insult over 3 min) within the 24 hours before the assessment
- insufficient cooperation to perform 3D gait analysis
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
Gait Profile Score (degrees)
Time frame: baseline (at intake)
To obtain a summary index of overall gait pathology, the Gait Profile Score will be calculated based on nine relevant lower limb joint angular time profiles collected during 3D gait analysis. These are anterior pelvic tilt, pelvic list, pelvic rotation, hip flexion and extension, hip ad- and abduction, hip rotation, knee flexion and extension, ankle dorsi- and plantar flexion and the foot progression angle. The gait profile score provides the average root mean squared error of the joint angular time profile with respect to normal walking and is presented in degrees. Higher values indicate a larger deviations from normal gait.
3 secondary outcomes
Lower limb kinematics during walking (degrees)
Time frame: baseline (at intake)
Functional Mobility Scale
Time frame: baseline (at intake)
Mobility Questionnaire 28
Time frame: baseline (at intake)
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 7 May 2026.
- Background: PubMed 21440711Dallmeijer AJ, Scholtes VA, Becher J, Roorda LD. Measuring mobility limitations in children with cerebral palsy: Rasch model fit of a mobility questionnaire, MobQues28. Arch Phys Med Rehabil. 2011 Apr;92(4):640-5. doi: 10.1016/j.apmr.2010.11.002.
- Background: PubMed 16303305Desloovere K, Molenaers G, Feys H, Huenaerts C, Callewaert B, Van de Walle P. Do dynamic and static clinical measurements correlate with gait analysis parameters in children with cerebral palsy? Gait Posture. 2006 Nov;24(3):302-13. doi: 10.1016/j.gaitpost.2005.10.008. Epub 2005 Nov 21.
- Background: PubMed 15308901Graham HK, Harvey A, Rodda J, Nattrass GR, Pirpiris M. The Functional Mobility Scale (FMS). J Pediatr Orthop. 2004 Sep-Oct;24(5):514-20. doi: 10.1097/00004694-200409000-00011.
- Background: PubMed 19342241Hallemans A, Beccu S, Van Loock K, Ortibus E, Truijen S, Aerts P. Visual deprivation leads to gait adaptations that are age- and context-specific: I. Step-time parameters. Gait Posture. 2009 Jul;30(1):55-9. doi: 10.1016/j.gaitpost.2009.02.018. Epub 2009 Apr 1.
- Background: PubMed 19560925Hallemans A, Beccu S, Van Loock K, Ortibus E, Truijen S, Aerts P. Visual deprivation leads to gait adaptations that are age- and context-specific: II. Kinematic parameters. Gait Posture. 2009 Oct;30(3):307-11. doi: 10.1016/j.gaitpost.2009.05.017. Epub 2009 Jun 27.
- Background: PubMed 29705520Hallemans A, Verbecque E, Dumas R, Cheze L, Van Hamme A, Robert T. Developmental changes in spatial margin of stability in typically developing children relate to the mechanics of gait. Gait Posture. 2018 Jun;63:33-38. doi: 10.1016/j.gaitpost.2018.04.019. Epub 2018 Apr 18.
- Background: PubMed 2324857Kadaba MP, Ramakrishnan HK, Wootten ME. Measurement of lower extremity kinematics during level walking. J Orthop Res. 1990 May;8(3):383-92. doi: 10.1002/jor.1100080310.
- Background: PubMed 32707402Meyns P, Van de Walle P, Desloovere K, Janssens S, Van Sever S, Hallemans A. Age-related differences in interlimb coordination during typical gait: An observational study. Gait Posture. 2020 Sep;81:109-115. doi: 10.1016/j.gaitpost.2020.07.013. Epub 2020 Jul 17.
- Background: PubMed 31163675Moavero R, Benvenuto A, Emberti Gialloreti L, Siracusano M, Kotulska K, Weschke B, Riney K, Jansen FE, Feucht M, Krsek P, Nabbout R, Jansen AC, Wojdan K, Borkowska J, Sadowski K, Hertzberg C, Hulshof H, Samueli S, Benova B, Aronica E, Kwiatkowski DJ, Lagae L, Jozwiak S, Curatolo P. Early Clinical Predictors of Autism Spectrum Disorder in Infants with Tuberous Sclerosis Complex: Results from the EPISTOP Study. J Clin Med. 2019 Jun 3;8(6):788. doi: 10.3390/jcm8060788.
- Background: PubMed 24053982Northrup H, Krueger DA; International Tuberous Sclerosis Complex Consensus Group. Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 Iinternational Tuberous Sclerosis Complex Consensus Conference. Pediatr Neurol. 2013 Oct;49(4):243-54. doi: 10.1016/j.pediatrneurol.2013.08.001.
- Background: PubMed 33445141Wyers L, Verheyen K, Ceulemans B, Schoonjans AS, Desloovere K, Van de Walle P, Hallemans A. The mechanics behind gait problems in patients with Dravet Syndrome. Gait Posture. 2021 Feb;84:321-328. doi: 10.1016/j.gaitpost.2020.12.029. Epub 2020 Dec 31.
- Individual participant dataSharing planned: Undecided
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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. This study is not recruiting at the moment.
Anna Jansen, MD, PhD principal investigator
University Hospital, Antwerp
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 Tuberous Sclerosis and STXBP1 Encephalopathy With Epilepsy, run by Universiteit Antwerpen at 1 site in Belgium.
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 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 7 May 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 Belgium. 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?
Gait Profile Score (degrees) (time frame: baseline (at intake)). 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 NCT05161494, which also lists 11 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 7 May 2026.