Angelman Syndrome Natural History Study-FAST UK

NCT05100810 | Unknown

• 1 other identifier: PID15397
• Study Type: observational
• Target: 40
• Locations: 1 country
• Sites: 1

Brief 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 healthcare system for forthcoming clinical trials.

Conditions

Angelman Syndrome

Keywords

Natural History; EEG; ActiMyo; outcome measures; proteomics

Outcome Measures

Primary Outcomes (4)

• 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.

  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.

  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.

  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.

  2 years 1 month

Secondary Outcomes (14)

• Movement monitoring using wearable device

  2 years 1 month

• Gross motor milestones

  2 years 1 month

• Global development assessment scale

  2 years 1 month

• Global development assessment scale

  2 years 1 month

• Aberrant behaviour assessment

  2 years 1 month

Other Outcomes (1)

• DNA biobank

  2 years and 1 month

Study Arms (1)

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.

Other: Natural History Study

Interventions

Natural History Study OTHER

Longitudinal assessment of disease progression of Angelman syndrome in patients

Angelman syndrome patients

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

* Genetically confirmed diagnosis of AS * 0-99 years * Male or Female

You may qualify if:

• For the candidate participants affected by AS:
• Genetically confirmed diagnosis of AS
• years
• Male or Female
• Obtained consent forms and/or record of consultation by the carers.
• 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

You may not qualify if:

• 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.

Sponsors & Collaborators

• University of Oxford: lead
• Foundation for Angelman Syndrome Therapeutics UK: collaborator
• Hoffmann-La Roche: collaborator

Study Sites (1)

University of Oxford

Oxford, OXON, OX3 9DU, United Kingdom

RECRUITING

Biospecimen

Retention: SAMPLES WITH DNA

15 mls of blood will be collected during each visit. Blood samples will be centrifuged and plasma stored in the Department of Paediatrics, University of Oxford. Proteomics will be performed on plasma samples. Some blood will be collected for the Angelman Syndrome DNA biobank.

MeSH Terms

Conditions

Angelman Syndrome

Condition Hierarchy (Ancestors)

Movement Disorders; Central Nervous System Diseases; Nervous System Diseases; Abnormalities, Multiple; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Chromosome Disorders; Genetic Diseases, Inborn; Imprinting Disorders

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: August 13, 2021
• First Posted: October 29, 2021
• Study Start: November 1, 2021
• Primary Completion: December 31, 2024
• Study Completion: December 31, 2024
• Last Updated: February 28, 2024

Record last verified: 2023-11

Locations

GB (1)