Angelman Natural History Study - FAST Spain

Angelman Syndrome Clinical Trial

Official title:

Observational Study, Prospective Multicentric, From the Natural History of Patients With Angelman Syndrome in Spain

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT06115109
• Other study ID #: 01_FAST SPAIN
• Status: Recruiting
• Start date: December 1, 2023
• Est. completion date: July 1, 2025

Study information

• Verified date: April 2024
• Source: Puerta de Hierro University Hospital
• Contact: BELEN RUIZ ANTORAN, MD, Ph
• Phone: +34911917479
• Email: bruizantoran[@]gmail.com
• Is FDA regulated: No
• Study type: Observational

Clinical Trial Summary

The goal of this study is to conduct a prospective, longitudinal study to observe the natural clinical progression and disease outcome of AS patients receiving no disease-modified intervention, with the purpose of obtaining data that will be useful for future clinical trials.

Description:

The overall goal is to increase our understanding of the long-term natural history of Angelman syndrome and to identify and validate objective and sensitive outcome measures, which could serve as endpoints for outcome measures that can be used in clinical trials.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 40
• Est. completion date: July 1, 2025
• Est. primary completion date: December 31, 2024
• Accepts healthy volunteers: No
• Gender: All
• Age group: 3 Months to 99 Years

Eligibility

Inclusion Criteria:

1. Male or female between 3 months and 99 years of age.

2. Clinical diagnosis of Angelman Syndrome and molecular confirmation of the diagnosis.

3. The participant has an acceptable guardian capable of giving consent on behalf of the participant,

4. Willingness and ability of their guardians to comply with scheduled visits, treatment plan, laboratory tests, and other study procedures.

Exclusion Criteria:

1. Patients with any comorbidity that, in the clinical judgment of the principal investigator, may affect the results of the study. Any confirmed chronic or acute condition or illness affecting any system(s) that could interfere with study results and/or compliance with study procedures is included.

2. Patients who are participating in parallel studies with investigational drugs.

3. Unwillingness or inability of their guardians to follow the procedures outlined in the protocol.

Related Conditions & MeSH terms

• Angelman Syndrome
• Syndrome

Intervention

Other:
• Non intervention, Observational study
Non intervention, Observational study

Locations

Country	Name	City	State
Spain	Hospital Parc Tauli. Servicio de Genética molecular	Barcelona
Spain	Servicio de Farmacología Clínica. Hospital Universitario Puerta de Hierro Majadahonda	Madrid

Sponsors (2)

Lead Sponsor	Collaborator
Puerta de Hierro University Hospital	Parc Taulí Hospital Universitari

Country where clinical trial is conducted

Spain, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Clinical Global Impression Scale for AS (CGI-AS)	Medical and neurological evaluation: -Clinical Global Impression Scale for AS (CGI-AS). The scale consists of several categories, from "not assessed" to "extremely severe." Professionals assess various aspects of behavior, communication, and the individual's overall functioning to assign a score on the CGI-AS scale. A higher score indicates a greater severity of symptoms, while a lower score indicates less severity.	2 years
Primary	Hammersmith Neonatal Neurological Examination (HINE) (for 0-2 years)	Medical and neurological evaluation: Hammersmith Neonatal Neurological Examination (HINE). 26 items that assess neurological function (cranial nerve function, posture, movements, tone, reflexes, and reactions). For neurological function, each item is individually scored on a scale of 0 to 3 based on descriptions and illustrative diagrams, so the total score can range from a minimum of 0 to a maximum of 78.	2 years
Secondary	Movement through actimetry	Continuous monitoring of movement through actimetry. Actigraphs will we placed on the non-dominant wrist or ankle of each participant. The motionlogger measures long-term gross motor activity and integrates degree and intensity of motion, and contains an accelerometer capable of sensing any motion with minimal resultant force of .01g. Actigraphy measurements will we recorded by the motionlogger every second using the proportional integrating measurement (PIM) mode of operation. In PIM mode, a numeric scale of movement activity is provided based on the absolute value of the area under the sensor curve. The PIM data can range from zero, corresponding to no movement when the limb is at rest, to a maximum value of 32,000, corresponding to the most vigorous and extreme movement of the limb.	2 years
Secondary	Motor function scales	Motor function scales: - Functional Mobility Scale (FMS). The FMS classifies the functional mobility of children 4-18 years of age taking into account the assistive devices a child might use.; 3 items (distances), each of which is rated from 1-6 depending on assistance required, or "C" for crawling or "N" if distance is not completed Maximum score is a 6 for each of the distances (5m, 50m, and 500m)	2 years
Secondary	Global development: Bayley Scale-3 (BSID-3)	-Bayley Scale-3 (BSID-3), at the time that version 4 of the Bayley scale (BSID-4) is validated in Spanish, it will be used in the context of the registry.; Bayley Scales of Infant Development III, cognitive scale; raw scores used to reflect change over time and absolute growth (rather than standard scores) Range: Minimum =20 points; Maximum=60 Higher score = better outcome	2 years
Secondary	Global development: Vineland Scale-III (VABS-III)	Vineland Scale-III is designed to measure adaptive behavior of individuals from birth to age 90. The Vineland-II contains 5 domains each with 2-3 subdomains. The main domains are: Communication, Daily Living Skills, Socialization, Motor Skills, and Maladaptive Behavior.	2 years
Secondary	Global development: Aberrant behavior scale (ABC-C)	Aberrant behavior scale (ABC-C). The ABC-C is a global behavior checklist that measures drug and other treatment effects in people with developmental disabilities. It is made up of five subscales, including Irritability, Lethargy, Inappropriate Speech, Hyperactivity, and Stereotypy based on 58 items that describe various behavioral problems.	2 years
Secondary	Communication assessment: ORCA communication tool (specifically designed for patients with AS)	ORCA communication tool (specifically designed for patients with AS). Observed Reported Communication Assessment (ORCA) Tool. Questionnaire designed to be completed by the patients' main carer and records patient communication.	2 years
Secondary	Communication assessment: Leiter-3, Nonverbal Intelligence Scale	-Leiter-3, Nonverbal Intelligence Scale (for patients with equivalent developmental age greater than 3 years 6 months). Is a totally nonverbal test of intelligence and cognitive abilities. Evaluates nonverbal cognitive, attentional, and neuropsychological abilities, and targets 'typical' as well as 'atypical' children, adolescents, and now adults.	2 years
Secondary	Sleep Disorders: Childhood Sleep Disorders Scale (Bruni Scale)	-Childhood Sleep Disorders Scale (Bruni Scale). The SDSC is a 26-item scale developed to assess the presence of sleep difficulties in children within the previous six months.; Divided items into six categories representing some of the most common sleep diffi culties affecting adolescents and children: disorders of initiating and maintaining sleep, sleep breathing disorders, disorders of arousal/nightmares, sleep-wake transition disorders, disorders of excessive somnolence, and sleep hyperhidrosis (nighttime sweating).; The measure is completed by the parent of the child and takes approximately 5-10 min to complete. Item 1 measures the child's average hours of sleep, from 1 ('9 - 11 h') to 5 ('less than 5 h'). Item 2 measures the child's average time to fall asleep, from 1 ('less than 15 min') to 5 ('more than 60 min'). The remaining 24 items are rated on a 5-point Likert scale, from 1 ('Never') to 5 ('Always [daily]').	2 years
Secondary	Sleep Disorders: Children's Sleep Habits Questionnaire (CSHQ)	-Children's Sleep Habits Questionnaire (CSHQ) This questionnaire was designed as a sleep screening instrument for school-aged children that yields final scores across eight subscales: bedtime resistance, sleep resistance, parasomnia, sleep disordered breathing, night-wakings, daytime sleepiness, sleep anxiety, and sleep onset delay, as well as a summative score, called the Total Sleep Disturbance score.	2 years
Secondary	Sleep Disorders: Diaries	This study will utilize a brief 6-item sleep diary to collect parent-reported sleep variables (e.g., "what time was your child down for the night?").	2 years
Secondary	Proteomic analysis	Proteomic analysis: Ubiquitin proteomics approach. Characterization of ubiquitination by Ube3a, a proteasomal component conserved from yeast (Ddi1) to humans (DDI1 and DDI2).	2 years
Secondary	Electroencephalogram (EEG) activity recordings	Electroencephalogram (EEG) to record brain activity of Angelman Syndrome patients over a 4-hour period (e.g., sleep architecture, number and frequency of seizures, background epileptic activity, delta-rhythmicity)	2 years