Natural History Study for Patients With Angelman Syndrome

Condition(s) studied

Study 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.

Eligibility

Primary outcome measure(s)

• Bayley-IV gross motor functions — 2 years
  Scale of 58 items of Gross motor (raw score 0 to 116) development evaluation.
• Bayley-IV fine motor functions — 2 years
  Scale of 46 items of fine motor scale (raw score 0 to 92) development evaluation.
• Bayley-IV Cognitive — 2 years
  Scale of 81 items of cognitive scale development evaluation (raw score 0 to 162).
• Bayley-IV Receptive Communication — 2 years
  Scale of 42 items of receptive communication abilities scale in development evaluation (raw score 0 to 84).
• Bayley-IV Expressive Communication — 2 years
  Scale of 37 items of expressive communication abilities scale in development evaluation (raw score 0 to 74).
• Functional Mobility Scale (FMS) — 2 years
  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).
• Developmental Milestones — 2 years
  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). .
• Hammersmith Infant Neurological Examination (HINE - if under 2 years old) — 2 years
  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).
• Vineland-II — 2 years
  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,
• Observed Reported Communication Assessment (ORCA) — 2 years
  Caregivers interview of 23 items with subscales to assessing the general communication. This is a qualitative questionnaire.
• Continuous movement monitoring using ActiMyo® — 2 years
  To improve the design of future clinical trials by validating tools of assessment based on their suitability to be used as prognostic measures.

Trial sites (1)

More Centre Hospitalier Universitaire de Liege trials in Belgium