• Today, many experimental treatments are underway around the world. However, they involve only a very limited number of patients enrolled in clinical trials. Some countries or continents remain excluded from these trials for various reasons, including the difficulty of accessing an identified and structured patient community.

• Furthermore, the prevalence of Angelman syndrome remains a broad estimate, ranging from 1 in 12,000 to 1 in 20,000 births. The distribution by genotype is also based on empirical data still found in scientific literature.

• There are indeed data registries around the world, but they are sometimes local, or global but require families to re-enter their information. This can lead to fatigue or even confusion: “Why do I have to enter this data again?”

Can we design an approach that simultaneously addresses various needs while minimizing the effort required from families?

• Meeting different needs:

  • For families: Avoid the burden of re-entering the same information across multiple systems.

  • For pharmaceutical companies: Gain a better understanding of the Angelman community, refine prevalence estimates, and access reliable data on patient distribution by genotype.

• Providing value-added services:

  • For families: Strengthen the sense of belonging to a local and global community.

  • For local associations: Gain better knowledge of their community to be more proactive in discussions with pharmaceutical companies and clinical project leaders.

  • For pharmaceutical companies: Access aggregated, reliable, and structured data to better understand geographic specificities, with links to relevant local stakeholders.

1. Every day, automated routines run on a server to extract the collected data.

2. This data is then stored in a secure database.

3. In case of a data collection failure, the previous day’s data is automatically used to ensure continuity.

4. Business Intelligence reports are updated daily.

This technical solution is reliable, automated, and designed to be resilient to incidents.
It is also monitored to quickly detect and correct any anomalies.
The generated reports can be easily embedded into a website, either publicly or privately, depending on your needs.

Pharmaceutical companies particularly appreciate the clarity of the consolidated data and the visibility it provides on the Angelman community.
End users find the tool simple, intuitive, and very useful.

We use a Python-based technical environment, with a server and database hosted on PythonAnywhere, along with Power BI for dashboard creation. All infrastructure costs are fully covered by FAST France.

The processed data is pseudonymized, meaning it is impossible to identify a person based on the information used.
No directly identifiable personal data is collected or stored.

We want the global consolidated data to be of high quality.
Therefore, we exclude entries with uncertain information such as “I don’t know” for genotype or “indeterminate” for sex.
This explains why there may be more data available at the local level — it highlights the effort still needed to improve overall data quality.

The technical solution makes it easy to do, as shown by the examples of FAST France and FAST Latam, where a file with very limited information is shared:

• Age

• Genotype

• Sex

• (Optional) A geographic location adapted to the context of the country
  (e.g., region/department in France, Länder in Germany, province in Spain, city in Latin America…)

• (Optional) An internal identifier allowing, if necessary, re-identification within your local information system

Compliance with regulatory constraints requires us to be extremely vigilant and to avoid including any data that could lead to patient identification.

We are currently in discussions with FAST Spain, which would like to include regional or provincial granularity in the reporting, as well as with FAST Poland. A request has been submitted to the GASR, and they are assessing its feasibility. For the reporting to be reliable, the data must be provided in closed lists.

Putting my professional skills to work for the Angelman community gives real meaning to my commitment. I want to help strengthen visibility, connections between families, and the attractiveness of our community to new stakeholders — especially pharmaceutical companies that may one day invest in innovative therapeutic options for all patients, regardless of age, genotype, or country.