Natural History Study for Patients With Angelman Syndrome

Angelman Syndrome Clinical Trial

— NatHisAngelman  

Official title:

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

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT06229769
• Other study ID #: NatHis-Angelman
• Status: Recruiting
• Start date: October 10, 2021
• Est. completion date: January 2028

Study information

• Verified date: April 2024
• Source: Centre Hospitalier Universitaire de Liege
• Contact: Laura Buscemi
• Phone: 43215584
• Email: laura.buscemi[@]citadelle.be
• Is FDA regulated: No
• Study type: Observational

Clinical Trial Summary

This study is a 4-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 1-year recruitment phase, a 2-year follow-up and a year to analyze the collected data. The investigators plan to include 10 patients with a semi-annual follow-up for 2 years.

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

Description:

Patients are seen every six months for two 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).

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 15
• Est. completion date: January 2028
• Est. primary completion date: January 2028
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A and older

Eligibility

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

Related Conditions & MeSH terms

• Angelman Syndrome
• Syndrome

Locations

Country	Name	City	State
Belgium	CHR Citadelle Liège	Liège

Sponsors (3)

Lead Sponsor	Collaborator
Centre Hospitalier Universitaire de Liege	Centre Hospitalier Régional de la Citadelle, SYSNAV

Country where clinical trial is conducted

Belgium, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Other	Blood sample collection and DNA extraction and storage	To create a DNA biobank	1 year
Primary	Bayley-IV gross motor functions	Scale of 58 items of Gross motor (raw score 0 to 116) development evaluation.	2 years
Primary	Bayley-IV fine motor functions	Scale of 46 items of fine motor scale (raw score 0 to 92) development evaluation.	2 years
Primary	Bayley-IV Cognitive	Scale of 81 items of cognitive scale development evaluation (raw score 0 to 162).	2 years
Primary	Bayley-IV Receptive Communication	Scale of 42 items of receptive communication abilities scale in development evaluation (raw score 0 to 84).	2 years
Primary	Bayley-IV Expressive Communication	Scale of 37 items of expressive communication abilities scale in development evaluation (raw score 0 to 74).	2 years
Primary	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
Primary	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
Primary	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
Primary	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
Primary	Observed Reported Communication Assessment (ORCA)	Caregivers interview of 23 items with subscales to assessing the general communication.; This is a qualitative questionnaire.	2 years
Primary	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	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
Secondary	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