Angelman Natural History Study - FAST Spain

NCT06115109 | Recruiting

• 1 other identifier: 01_FAST SPAIN
• Study Type: observational
• Target: 40
• Locations: 1 country
• Sites: 2

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.

Conditions

Angelman Syndrome

Outcome Measures

Primary Outcomes (2)

• 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

• 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 Outcomes (12)

• Movement through actimetry

  2 years

• Motor function scales

  2 years

• Global development: Bayley Scale-3 (BSID-3)

  2 years

• Global development: Vineland Scale-III (VABS-III)

  2 years

• Global development: Aberrant behavior scale (ABC-C)

  2 years

Interventions

Non intervention, Observational study OTHER

Non intervention, Observational study

Eligibility Criteria

• Age: 3 Months - 99 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

All individuals with a molecular diagnosis of Angelman syndrome

You may qualify if:

• Male or female between 3 months and 99 years of age.
• Clinical diagnosis of Angelman Syndrome and molecular confirmation of the diagnosis.
• The participant has an acceptable guardian capable of giving consent on behalf of the participant,
• Willingness and ability of their guardians to comply with scheduled visits, treatment plan, laboratory tests, and other study procedures.

You may not qualify if:

• 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.
• Patients who are participating in parallel studies with investigational drugs.
• Unwillingness or inability of their guardians to follow the procedures outlined in the protocol.

Sponsors & Collaborators

• Puerta de Hierro University Hospital: lead
• Parc Taulí Hospital Universitari: collaborator

Study Sites (2)

Hospital Parc Tauli. Servicio de Genética molecular

Barcelona, 08208, Spain

RECRUITING

Servicio de Farmacología Clínica. Hospital Universitario Puerta de Hierro Majadahonda

Madrid, 28049, Spain

RECRUITING

MeSH Terms

Conditions

Angelman Syndrome

Interventions

Observation

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

Intervention Hierarchy (Ancestors)

Methods; Investigative Techniques

Study Officials

• BELEN RUIZ ANTORAN, MD, Ph

  Clinical Pharmacology Deparment, Hospital Universitario Puerta de Hierro Majadahonda

  PRINCIPAL INVESTIGATOR

Central Study Contacts

BELEN RUIZ ANTORAN, MD, Ph

CONTACT

+34911917479; bruizantoran@gmail.com

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Principal Investigator

Study Record Dates

• First Submitted: July 26, 2022
• First Posted: November 2, 2023
• Study Start: December 1, 2023
• Primary Completion: December 31, 2024
• Study Completion: July 1, 2025
• Last Updated: April 3, 2024

Record last verified: 2024-04

Locations

ES (2)