Natural History Study for Patients With Angelman Syndrome (NatHisAngelman)

A Monocentric, Prospective, Longitudinal and Observational Natural History Study for Patients With Angelman Syndrome in CHR Citadelle Liège : NatHis-Angelman

This study is a 9-year natural history study for patients with Angelman syndrome in Belgium (a genetic neurodevelopmental disorder, affecting 500,000 individuals in the world). It includes a 3-year recruitment phase, a 5 year follow-up and a year to analyze the collected data. The investigators plan to include 30 patients with a semi-annual follow-up for 4 years.

The investigators will collect relevant retrospective and prospective data using age-standardized scales and questionnaires for functional motor assessments and global developmental assessment.

Study Overview

• Status: Recruiting
• Conditions: Angelman Syndrome

Detailed Description

Patients are seen every six months for five years. In these visits, patient have medical review (general medical examination, neurological examination), vital signs (height, weight, respiratory rate, heart rate, blood pressure), cognitive assessment (Bayley-IV), language assessment and questionaire (Bayley-IV, ORCA), motor assessments (Bayley-IV, FMS, Developmental milestones and HINE), quality of life questionnaire (PedsQL, CGI-CASS) and general development questionnaire (Vineland-II).

• Study Type: Observational
• Enrollment (Estimated): 30

Contacts and Locations

• Study Contact: Name: Noor Benmhammed; Phone Number: +32 43217726; Email: Noor.Benmhammed@citadelle.be
• Study Contact Backup: Name: Tamara Dangouloff, PhD; Email: tamara.dangouloff@uliege.be

Study Locations

• Belgium
  • Liège, Belgium, 4000
    • Recruiting
    • CHR Citadelle Liège
    • Principal Investigator: Laura Vanden Brande, Dr.
    • Contact: Noor Benmhammed; Phone Number: +32 43217726; Email: Noor.Benmhammed@citadelle.be
    • Contact: Tamara Dangouloff, PhD; Phone Number: +32 43215269; Email: tamara.dangouloff@uliege.be

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

Patients with Angelman Syndrom

Description

Inclusion Criteria:

• Genetically confirmed diagnosis of AS
• 0-99 years
• Male or Female
• Participant's carer is willing to give IC/sign a "record of consultation" for participation in the study

Exclusion Criteria:

• comorbidity that could potentially affect the results of the study coexists. This

Study Plan

How is the study designed?

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Continuous movement monitoring using ActiMyo®	To improve the design of future clinical trials by validating tools of assessment based on their suitability to be used as prognostic measures.	2 years
Bayley-IV gross motor functions	Scale of 58 items of Gross motor (raw score 0 to 116) development evaluation.	2 years
Bayley-IV fine motor functions	Scale of 46 items of fine motor scale (raw score 0 to 92) development evaluation.	2 years
Bayley-IV Cognitive	Scale of 81 items of cognitive scale development evaluation (raw score 0 to 162).	2 years
Bayley-IV Receptive Communication	Scale of 42 items of receptive communication abilities scale in development evaluation (raw score 0 to 84).	2 years
Bayley-IV Expressive Communication	Scale of 37 items of expressive communication abilities scale in development evaluation (raw score 0 to 74).	2 years
Functional Mobility Scale (FMS)	Scale o 3 items (5, 50 and 500 meters distance of ability to move alone) to classify children's functional mobility, document change over time in the same child and to document change seen following. This scale is scored 1 (moving alone with wheelchair) to 6 (running).	2 years
Developmental Milestones	Scale to Evaluate the general gross motor milestones of 6 items global motor ability, from ability to sit without support to walk alone (score by able or not able). .	2 years
Hammersmith Infant Neurological Examination (HINE - if under 2 years old)	Scale of 8 items to evaluation the mobility in young children, scored 0 (unable) to 4 (able and normal for children age) per items (total raw score from 0 to 32).	2 years
Vineland-II	11 subscales of items evaluated with Caregivers interview tool for assessing the level of autonomy and adaptation for all ages. Subscales are composed as following (higher scores with better the abilites): Listening and understanding, raw score 0 to 40;; Speaking, raw score 0 to 108,; Reading and writing, raw score 0 to 54,; Self caring, raw score 0 to 82,; Home caring, raw score 0 to 48,; Community living, raw score 0 to 88,; Contact with others, raw score 0 to 76,; Play and use your free time, raw score 0 to 62,; Adapting, raw score 0 to 60,; Gros motor, raw score 0 to 80,; Fine motor, raw score 0 to 72,	2 years
Observed Reported Communication Assessment (ORCA)	Caregivers interview of 23 items with subscales to assessing the general communication. This is a qualitative questionnaire.	2 years

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Clinical Global Impression - Improvement - Angelman Syndrome (CGI-I-AS)	Caregivers interview of quality of life severity and change in patient with Angelman Syndrome since last 7 days and since the last month. Part regarding the severity in last 7 days is composed of 9 items scored 0 ("not at all difficult") to 4 ("very difficult"), raw score is between 0 to 36. Part regarding change in last month is composed of 9 items scored 1 ("very much improved") to 7 ("very much worse"), raw score is between 0 to 63,	2 years
Pediatric Quality of Life (PedsQL)	Caregivers interview of quality of life and family impact in daily life separated in two parts, one regarding the last 7 days and one regarding the last month. Total raw score for each part is on 100 (100 related to no impact to 0 related to a huge impact).	2 years

Other Outcome Measures

Outcome Measure	Measure Description	Time Frame
Blood sample collection and DNA extraction and storage	To create a DNA biobank	1 year

Collaborators and Investigators

• Sponsor: Centre Hospitalier Universitaire de Liege
• Collaborators: Centre Hospitalier Régional de la Citadelle; SYSNAV
• Investigators: Principal Investigator: Laura Vanden Brande, CHR Citadelle

Study record dates

Study Major Dates

• Study Start (Actual): October 10, 2021
• Primary Completion (Estimated): January 1, 2028
• Study Completion (Estimated): January 1, 2028

Study Registration Dates

• First Submitted: November 2, 2023
• First Submitted That Met QC Criteria: January 17, 2024
• First Posted (Actual): January 29, 2024

Study Record Updates

• Last Update Posted (Estimated): May 20, 2025
• Last Update Submitted That Met QC Criteria: May 15, 2025
• Last Verified: May 1, 2025

More Information

Terms related to this study

• Keywords: Accelerometry; Daily living; Actimyo°
• Additional Relevant MeSH Terms: Imprinting Disorders; Central Nervous System Diseases; Nervous System Diseases; Pathologic Processes; Genetic Diseases, Inborn; Disease; Congenital Abnormalities; Movement Disorders; Abnormalities, Multiple; Chromosome Disorders; Syndrome; Angelman Syndrome
• Other Study ID Numbers: NatHis-Angelman

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No
• product manufactured in and exported from the U.S.: No