Natural History Study for Patients With Angelman Syndrome

NCT06229769 | Recruiting

• 1 other identifier: NatHis-Angelman
• Study Type: observational
• Target: 30
• Locations: 1 country
• Sites: 1

Brief Summary

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.

Conditions

Angelman Syndrome

Keywords

Actimyo°; Accelerometry; Daily living

Outcome Measures

Primary Outcomes (11)

• 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): 1. Listening and understanding, raw score 0 to 40; 2. Speaking, raw score 0 to 108, 3. Reading and writing, raw score 0 to 54, 4. Self caring, raw score 0 to 82, 5. Home caring, raw score 0 to 48, 6. Community living, raw score 0 to 88, 7. Contact with others, raw score 0 to 76, 8. Play and use your free time, raw score 0 to 62, 9. Adapting, raw score 0 to 60, 10. Gros motor, raw score 0 to 80, 11. 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

• 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

Secondary Outcomes (2)

• Clinical Global Impression - Improvement - Angelman Syndrome (CGI-I-AS)

  2 years

• Pediatric Quality of Life (PedsQL)

  2 years

Other Outcomes (1)

• Blood sample collection and DNA extraction and storage

  1 year

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

Patients with Angelman Syndrom

You may qualify if:

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

You may not qualify if:

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

Sponsors & Collaborators

• Centre Hospitalier Universitaire de Liege: lead
• Centre Hospitalier Régional de la Citadelle: collaborator
• SYSNAV: collaborator

Study Sites (1)

CHR Citadelle Liège

Liège, Liège, 4000, Belgium

RECRUITING

Biospecimen

Retention: SAMPLES WITH DNA

One EDTA sample of 5ml at baseline visit only

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 Officials

• Laura Vanden Brande

  CHR Citadelle

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Noor Benmhammed

CONTACT

43217726; Noor.Benmhammed@citadelle.be

Tamara Dangouloff, PhD

CONTACT

tamara.dangouloff@uliege.be

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Prof. Investigator of CRMN Liège, Principal investigator

Study Record Dates

• First Submitted: November 2, 2023
• First Posted: January 29, 2024
• Study Start: October 10, 2021
• Primary Completion (Estimated): January 1, 2028
• Study Completion (Estimated): January 1, 2028
• Last Updated: May 20, 2025

Record last verified: 2025-05

Data Sharing

• IPD Sharing: Will not share

Locations

BE (1)