Clinical trial NCT06115109: Angelman Natural History Study - FAST Spain
Official title: Observational Study, Prospective Multicentric, From the Natural History of Patients With Angelman Syndrome in Spain
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Angelman Syndrome
Lead sponsor: Puerta de Hierro University Hospital
Sponsor class: OTHER
Collaborators: name: Parc Taulí Hospital Universitari
First posted: 2023-11-02
Enrollment: 40
Sex: ALL
Minimum age (years): 3
Maximum age (years): 99
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: All individuals with a molecular diagnosis of Angelman syndrome

Brief 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.

Detailed 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.

Eligibility criteria: 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.

Primary outcomes:
measure: Clinical Global Impression Scale for AS (CGI-AS)
timeFrame: 2 years
measure: Hammersmith Neonatal Neurological Examination (HINE) (for 0-2 years)
timeFrame: 2 years
Secondary outcomes:
measure: Movement through actimetry
timeFrame: 2 years
measure: Motor function scales
timeFrame: 2 years
measure: Global development: Bayley Scale-3 (BSID-3)
timeFrame: 2 years
measure: Global development: Vineland Scale-III (VABS-III)
timeFrame: 2 years
measure: Global development: Aberrant behavior scale (ABC-C)
timeFrame: 2 years
measure: Communication assessment: ORCA communication tool (specifically designed for patients with AS)
timeFrame: 2 years
measure: Communication assessment: Leiter-3, Nonverbal Intelligence Scale
timeFrame: 2 years
measure: Sleep Disorders: Childhood Sleep Disorders Scale (Bruni Scale)
timeFrame: 2 years
measure: Sleep Disorders: Children's Sleep Habits Questionnaire (CSHQ)
timeFrame: 2 years
measure: Sleep Disorders: Diaries
timeFrame: 2 years
measure: Proteomic analysis
timeFrame: 2 years
measure: Electroencephalogram (EEG) activity recordings
timeFrame: 2 years
Other outcomes:
Locations:
city: Barcelona
country: Spain
facility: Hospital Parc Tauli. Servicio de Genética molecular
city: Madrid
country: Spain
facility: Servicio de Farmacología Clínica. Hospital Universitario Puerta de Hierro Majadahonda
Study officials:
affiliation: Clinical Pharmacology Deparment, Hospital Universitario Puerta de Hierro Majadahonda
name: BELEN RUIZ ANTORAN, MD, Ph
role: PRINCIPAL_INVESTIGATOR
References: