Observational Study, Prospective Multicentric, From the Natural History of Patients With Angelman Syndrome in Spain
Status: Recruiting
Location: See all (2) locations...
Intervention Type: Other
Study Type: Observational
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.
Eligibility
Participation Requirements
Sex: All
Minimum Age: 3 months
Maximum Age: 99
Healthy Volunteers: f
View:
• 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.
Locations
Other Locations
Spain
Hospital Parc Tauli. Servicio de Genética molecular
RECRUITING
Barcelona
Servicio de Farmacología Clínica. Hospital Universitario Puerta de Hierro Majadahonda
RECRUITING
Madrid
Contact Information
Primary
BELEN RUIZ ANTORAN, MD, Ph
bruizantoran@gmail.com
+34911917479
Time Frame
Start Date: 2023-12-01
Estimated Completion Date: 2025-07-01
Participants
Target number of participants: 40
Related Therapeutic Areas
Sponsors
Leads: Puerta de Hierro University Hospital
Collaborators: Parc Taulí Hospital Universitari