Observing the natural progression of Angelman Syndrome

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

This study is tracking how Angelman Syndrome naturally progresses in patients who aren't on any treatments to help gather important information for future research.

Quick facts

• Study type: Observational
• Enrollment: 40 (estimated)
• Ages: 3 Months to 99 Years
• Sex: All
• Sponsor: Puerta de Hierro University Hospital (Academic / other)
• Locations: 2 sites (Barcelona and 1 other locations)
• Trial ID: NCT06115109 on ClinicalTrials.gov

What this trial studies

This observational study aims to conduct a prospective, longitudinal assessment of patients with Angelman Syndrome who are not receiving any disease-modifying interventions. By tracking the natural clinical progression and outcomes of these patients, the study seeks to gather valuable data that can inform future clinical trials. The focus is on identifying and validating objective and sensitive outcome measures that could serve as endpoints in upcoming studies.

Who should consider this trial

Good fit: Ideal candidates include males and females aged 3 months to 99 years with a clinical diagnosis and molecular confirmation of Angelman Syndrome.

Not a fit: Patients with significant comorbidities or those participating in other investigational drug studies may not benefit from this study.

Why it matters

Potential benefit: If successful, this study could provide critical insights into the natural history of Angelman Syndrome, aiding in the development of effective treatments.

How similar studies have performed: While this approach is observational and may not have direct precedents, understanding the natural history of rare diseases like Angelman Syndrome is crucial for future therapeutic developments.

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.

Where this trial is running

Barcelona and 1 other locations

• Hospital Parc Tauli. Servicio de Genética molecular — Barcelona, Spain (Recruiting)
• Servicio de Farmacología Clínica. Hospital Universitario Puerta de Hierro Majadahonda — Madrid, Spain (Recruiting)

Study contacts

• Principal investigator: BELEN RUIZ ANTORAN, MD, Ph — Clinical Pharmacology Deparment, Hospital Universitario Puerta de Hierro Majadahonda
• Study coordinator: BELEN RUIZ ANTORAN, MD, Ph

Conditions Angelman Syndrome