Angelman SyndromeNCT05100810
Angelman Syndrome Natural History Study-FAST UK
An observational study of Angelman Syndrome, run by University of Oxford at 1 site in United Kingdom.
Trial summary
The goal of this study is to conduct a prospective, longitudinal assessment of the natural clinical progression of Angelman syndrome (AS) in children and adults. This will be performed by acquiring baseline measurements, and developing effective outcome measures and diagnostic tools for the syndrome, to prepare the… Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Angelman Syndrome
- What is being tested?
- Natural History Study
- How many people
- 40 participants
- Where
- 1 siteUnited Kingdom
- Study dates
- 1 Nov 2021to 31 Dec 2024
- 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 Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: * Genetically confirmed diagnosis of AS * 0-99 years * Male or Female
Who may be able to join
- For the candidate participants affected by AS:
- Genetically confirmed diagnosis of AS
- 0-99 years
- Male or Female
- Obtained consent forms and/or record of consultation by the carers.
- In this study, the two primary carers for each participant diagnosed with AS will be also considered participants. Carers will have to meet the following inclusion criteria:
Show all 12Show fewer
- Male or Female
- >18 years
- Legal carer of the patient diagnosed with AS
- Willingness to follow study procedures, as assessed by the research team
- Willingness to sign the consent form
- Ability to understand all the information regarding the study, as assessed by the research team
Who cannot join
- The participant affected by AS may not enter the study if there is any comorbidity (*) that could potentially affect the results of the study. This will be subject to the clinical judgement of the Chief Investigator (CI) and/or the Principal Investigator (PI). Participants of ongoing (interventional) clinical trials that assess the efficacy of potential treatments will be excluded as assessments need to be done on the basis that represent the natural progression of AS.
- () This includes any confirmed chronic or acute condition or disease affecting any system(s), which could interfere with the results of the study and/or the compliance with the study procedures.
Trial locations and contacts
1 site in 1 country.
United Kingdom1 site, 1 recruiting
- Recruiting
University of Oxford
Oxford, OXON, OX3 9DU
Theodora Markati, MD, MPhil, 01865234220, theodora.markati@paediatrics.ox.ac.uk
Corinne Betts, DPhil, corinne.betts@paediatrics.ox.ac.uk
About this study
Official title: A Monocentric, Prospective, Longitudinal and Observational Natural History Study for Patients With Angelman Syndrome in the United Kingdom: Natural History - Foundation for Angelman Syndrome Therapeutics (FAST) United Kingdom (UK)
The goal of this study is to conduct a prospective, longitudinal assessment of the natural clinical progression of Angelman syndrome (AS) in children and adults. This will be performed by acquiring baseline measurements, and developing effective outcome measures and diagnostic tools for the syndrome, to prepare the healthcare system for forthcoming clinical trials.
Read the detailed description
This study is being conducted in anticipation of several candidate therapies which are approaching clinical readiness for Angelman syndrome. This study will comprehensively evaluate the natural clinical progression of the disease using scales and questionnaires for the assessment of motor function and global development, motor measuring devices (ActiMyo), and by collecting sleep and seizure diaries. In addition, proteomic analysis and electroencephalography (EEG) recordings will be collected to identify biomarkers which will indicate improvements in disease outcome following treatment.
- Conditions
- Angelman Syndrome
- Being tested
- Natural History Study
- Keywords
- Natural History, EEG, ActiMyo, outcome measures, proteomics
- Medical subject headings
- Angelman Syndrome
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Natural History StudyOther
Longitudinal assessment of disease progression of Angelman syndrome in patients
| Study group | Role | What they receive |
|---|---|---|
| Angelman syndrome patients | This study will comprehensively evaluate the natural clinical progression of the disease using scales and questionnaires for the assessment of motor function and global development, movement monitoring devices (ActiMyo), and by collecting sleep and seizure diaries. In addition, proteomic analysis and electroencephalography (EEG) recordings will be collected to identify biomarkers that will indicate improvements in disease outcome following treatment. Receives: Other: Natural History Study |
What is being measured
The primary outcome is the main question the study is designed to answer.
Collection of relevant medical data (retrospective and prospective)
Collection of demographic data, Angelman Syndrome-related medical history, past medical and surgical history, current medication, history of immunisations and family medical history.
Measured: 2 years 1 month
Neurological assessment scale
Hammersmith Infant Neurological Examination (HINE) (0-2 years ONLY). Maximum global score of 78. Higher scores indicate a higher degree of neurological performance.
Measured: 2 years 1 month
Clinical Scale
Clinical Global Impressions Scale - Angelman Syndrome version (CGI-SAS). Scales whereby practitioner rates from 1 to 7 the overall improvement/deterioration of the participant affected by Angelman Syndrome. One is improved and 7 denotes deterioration.
Measured: 2 years 1 month
Clinical Scale
Caregiver-reported Angelman Syndrome Scale (CASS). Scales whereby the carer rates from 1 to 7 the overall improvement/deterioration of the participant affected to by Angelman Syndrome. One is improved and 7 denotes deterioration.
Measured: 2 years 1 month
Secondary outcomes (14)
Movement monitoring using wearable device
Continuous movement monitoring using actimetry ActiMyo® in uncontrolled environment (i.e., home)
Measured: 2 years 1 month
Gross motor milestones
World Health Organisation (WHO) Motor Milestones. Scale of 6 gross motor milestones. Lower scores denotes worse motor function.
Measured: 2 years 1 month
Global development assessment scale
Bayley Scales of Infant and Toddler Development - 4 (BSID-4) for Developmental delays. Scale is divided into five domains, which are further divided into subdomains. The first step is to calculate the starting point by beginning with the items that are age appropriate. The starting point is validated if three consecutive items are achieved. If the participant affected by Angelman Syndrome does not achieve three consecutive items in a row at the age-appropriated starting point, the evaluator must go backwards to the lower age-starting point until the participant affected by Angelman Syndrome achieves three items in a row. The assessment stops once five items in a row are not achieved.
Measured: 2 years 1 month
Global development assessment scale
Vineland Adaptive Behaviour Scales-III (VABS-III). Scale composed of two main domains, which are subdivided into several subdomains. Lower score indicates worse cognitive functioning.
Measured: 2 years 1 month
Aberrant behaviour assessment
Aberrant Behaviour Checklist-Community (ABC-C). This scale comprises 58 items and is divided into five subdomains. The ABC-C is designed on a four-point scale with the lowest score representing less-affected patients while the highest score represents the severest patients.
Measured: 2 years 1 month
Communication assessment
Observed Reported Communication Assessment (ORCA) Tool. Questionnaire designed to be completed by the patients' main carer and records patient communication.
Measured: 2 years 1 month
Motor function assessment
Functional Mobility Scale (FMS). Scale which rates the walking ability in three different walking distances, and these distances will be rated on a 6-point scale.
Measured: 2 years 1 month
Sleep and seizure activity
Sleep and seizure diaries with ready-made questionnaires
Measured: 2 years 1 month
Laboratory biomarkers for Angelman syndrome
Proteomic analysis of plasma samples to determine biomarkers of disease progression
Measured: 2 years 1 month
Electroencephalogram (EEG) activity recordings
Electroencephalogram (EEG) to record brain activity of Angelman Syndrome patients over a 24-hour period (e.g., sleep architecture, number and frequency of seizures, background epileptic activity, delta-rhythmicity)
Measured: 24 hours
Quality of Life questionnaires for families of Angelman syndrome patients
PedsQL-Family Module questionnaires. Questionnaire uses ranking system of 1-4 based on frequency.
Measured: 2 years 1 month
Quality of life assessment for individuals affected by Angelman syndrome
PedsQL-Core Module questionnaires. Questionnaire uses ranking system which depends on the age of patient.
Measured: 2 years 1 month
Health economics
Interview with Carer's
Measured: 2 years and 1 month
Clinical trial readiness
Demographic data collection and facilities preparation
Measured: 2 years and 1 month
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted29 Oct 2021
- Study start1 Nov 2021
- Primary completion31 Dec 2024 (estimated)
- Study completion31 Dec 2024 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Angelman SyndromeStudies of the same condition, open and under way.
- More trials run by University of OxfordThe 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
- 40 participants (estimated)
Sponsor and investigators
- Lead sponsor
- University of Oxford
- Sponsor type
- University, hospital or other
- Collaborators
- Angelman Syndrome Foundation, Inc., Hoffmann-La Roche
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05100810
- Sponsor's protocol ID
- PID15397
- Status last verified
- Nov 2023
- First submitted
- 13 Aug 2021
- Last updated
- 28 Feb 2024
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided
Study at a glance
From the registry record, last updated by the sponsor on 28 Feb 2024. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Monocentric, Prospective, Longitudinal and Observational Natural History Study for Patients With Angelman Syndrome in the United Kingdom: Natural History - Foundation for Angelman Syndrome Therapeutics (FAST) United Kingdom (UK)
- ClinicalTrials.gov ID
- NCT05100810
- Acronym / sponsor ID
- PID15397
- Conditions
- Angelman Syndrome
- Keywords
- Natural History, EEG, ActiMyo, outcome measures, proteomics
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 40 participants (estimated)
- Lead sponsor
- University of OxfordUniversity, hospital or other
- Collaborators
- Angelman Syndrome Foundation, Inc., Hoffmann-La Roche
- Study start
- 1 Nov 2021 (actual)
- Primary completion
- 31 Dec 2024 (estimated)
- Study completion
- 31 Dec 2024 (estimated)
- First posted
- 29 Oct 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 goal of this study is to conduct a prospective, longitudinal assessment of the natural clinical progression of Angelman syndrome (AS) in children and adults. This will be performed by acquiring baseline measurements, and developing effective outcome measures and diagnostic tools for the syndrome, to prepare the healthcare system for forthcoming clinical trials.
Detailed description
This study is being conducted in anticipation of several candidate therapies which are approaching clinical readiness for Angelman syndrome. This study will comprehensively evaluate the natural clinical progression of the disease using scales and questionnaires for the assessment of motor function and global development, motor measuring devices (ActiMyo), and by collecting sleep and seizure diaries. In addition, proteomic analysis and electroencephalography (EEG) recordings will be collected to identify biomarkers which will indicate improvements in disease outcome following treatment.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Angelman syndrome patients | – | Other: Natural History StudyThis study will comprehensively evaluate the natural clinical progression of the disease using scales and questionnaires for the assessment of motor function and global development, movement monitoring devices (ActiMyo), and by collecting sleep and seizure diaries. In addition, proteomic analysis and electroencephalography (EEG) recordings will be collected to identify biomarkers that will indicate improvements in disease outcome following treatment. |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- * Genetically confirmed diagnosis of AS * 0-99 years * Male or Female
Key inclusion criteria (12 listed)
- Genetically confirmed diagnosis of AS
- 0-99 years
- Male or Female
- Obtained consent forms and/or record of consultation by the carers.
- In this study, the two primary carers for each participant diagnosed with AS will be also considered participants. Carers will have to meet the following inclusion criteria:
Key exclusion criteria (2 listed)
- The participant affected by AS may not enter the study if there is any comorbidity (*) that could potentially affect the results of the study. This will be subject to the clinical judgement of the Chief Investigator (CI) and/or the Principal Investigator (PI). Participants of ongoing (interventional) clinical trials that assess the efficacy of potential treatments will be excluded as assessments need to be done on the basis that represent the natural progression of AS.
- () This includes any confirmed chronic or acute condition or disease affecting any system(s), which could interfere with the results of the study and/or the compliance with the study procedures.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Natural History StudyLongitudinal assessment of disease progression of Angelman syndrome in patients | Other | Angelman syndrome patients |
Primary outcome
Collection of relevant medical data (retrospective and prospective)
Time frame: 2 years 1 month
Collection of demographic data, Angelman Syndrome-related medical history, past medical and surgical history, current medication, history of immunisations and family medical history.
Neurological assessment scale
Time frame: 2 years 1 month
Hammersmith Infant Neurological Examination (HINE) (0-2 years ONLY). Maximum global score of 78. Higher scores indicate a higher degree of neurological performance.
Clinical Scale
Time frame: 2 years 1 month
Clinical Global Impressions Scale - Angelman Syndrome version (CGI-SAS). Scales whereby practitioner rates from 1 to 7 the overall improvement/deterioration of the participant affected by Angelman Syndrome. One is improved and 7 denotes deterioration.
Clinical Scale
Time frame: 2 years 1 month
Caregiver-reported Angelman Syndrome Scale (CASS). Scales whereby the carer rates from 1 to 7 the overall improvement/deterioration of the participant affected to by Angelman Syndrome. One is improved and 7 denotes deterioration.
14 secondary outcomes
Movement monitoring using wearable device
Time frame: 2 years 1 month
Gross motor milestones
Time frame: 2 years 1 month
Global development assessment scale
Time frame: 2 years 1 month
Global development assessment scale
Time frame: 2 years 1 month
Aberrant behaviour assessment
Time frame: 2 years 1 month
Communication assessment
Time frame: 2 years 1 month
Motor function assessment
Time frame: 2 years 1 month
Sleep and seizure activity
Time frame: 2 years 1 month
Laboratory biomarkers for Angelman syndrome
Time frame: 2 years 1 month
Electroencephalogram (EEG) activity recordings
Time frame: 24 hours
Quality of Life questionnaires for families of Angelman syndrome patients
Time frame: 2 years 1 month
Quality of life assessment for individuals affected by Angelman syndrome
Time frame: 2 years 1 month
Health economics
Time frame: 2 years and 1 month
Clinical trial readiness
Time frame: 2 years and 1 month
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 28 Feb 2024.
- 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.
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 Angelman Syndrome, run by University of Oxford at 1 site in United Kingdom.
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 12 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: status not confirmed, as of the sponsor's last update on 28 Feb 2024. 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 Kingdom. 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?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Each site lists its own contact: choose the nearest one under Trial locations. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Collection of relevant medical data (retrospective and prospective) (time frame: 2 years 1 month). 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?
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 28 Feb 2024.