Lasst uns MDS heilen

Lasst uns MDS heilen Association for supporting children with MECP2 duplication syndrome. Learn more on www.dupmecp2.eu

🇬🇧Joining REMEDS takes just a few simple steps, but the impact is meaningful. REMEDS is a secure, family‑driven platform...
18/06/2026

🇬🇧Joining REMEDS takes just a few simple steps, but the impact is meaningful.

REMEDS is a secure, family‑driven platform where families affected by MECP2 Duplication Syndrome can take part in surveys and studies over time, at their own pace, keep track of their past participation, and stay connected with research updates — all in one trusted place.

With REMEDS, every family’s voice matters.
🔗 www.remeds.org

🇫🇷Rejoindre REMEDS ne nécessite que quelques étapes simples, mais l’impact est énorme.

REMEDS est une plateforme sécurisée et conçue pour les familles, où les familles touchées par le syndrome de duplication du gène MECP2 peuvent participer à des enquêtes et à des études au fil du temps, à leur propre rythme, suivre l’historique de leurs participations et rester informées des avancées de la recherche — le tout sur un seul et même site fiable.

Avec REMEDS, la voix de chaque famille compte.
🔗 www.remeds.org

🇩🇪Eine Teilnahme bei REMEDS erfordert nur wenige einfache Schritte, hat aber eine große Wirkung.

REMEDS ist eine sichere, von Familien getragene Plattform, auf der von der MECP2-Duplikationserkrankung betroffene Familien im eigenen Tempo und über einen längeren Zeitraum hinweg an Umfragen und Studien teilnehmen, den Überblick über ihre bisherige Teilnahme behalten und über aktuelle Forschungsergebnisse auf dem Laufenden bleiben können – alles an einem vertrauenswürdigen Ort.

Mit REMEDS zählt die Stimme jeder Familie.
🔗 www.remeds.org

🇪🇸Unirse a REMEDS solo requiere unos sencillos pasos, pero el impacto es enorme.

REMEDS es una plataforma segura y diseñada para las familias, en la que las familias afectadas por el síndrome de duplicación del gen MECP2 pueden participar en encuestas y estudios a lo largo del tiempo, a su propio ritmo, hacer un seguimiento del historial de sus participaciones y mantenerse informadas de los avances de la investigación, todo ello en un único sitio web.

Con REMEDS, la voz de cada familia cuenta.
🔗 www.remeds.org

Happy Father’s Day to all the dads who show up every single day for their children.
As dads in the DupMECP2 community, w...
14/06/2026

Happy Father’s Day to all the dads who show up every single day for their children.

As dads in the DupMECP2 community, we know how much it takes… and how much it matters.💙💜🧡

 David Covini .gerald

What does REMEDS stand for?REMEDS means Register and Medical Survey Platform for MECP2 Duplication Syndrome. It is the n...
05/06/2026

What does REMEDS stand for?
REMEDS means Register and Medical Survey Platform for MECP2 Duplication Syndrome. It is the new secure, family driven platform created for the MDS community.

REMEDS is more than just a registry. It brings community surveys, studies, and research updates for MDS families together in one central and trusted place, making it easier to contribute to research at your own pace, keep track of past participation, and stay informed.
REMEDS is free, secure, and built to support families, while moving research forward, together.
With REMEDS, every family’s voice matters.
🔗 www.remeds.org

🇩🇪 Wofür steht REMEDS?
REMEDS steht für REgister and MEdical survey platform for MECP2 Duplication Syndrome (Register- und medizinische Umfrageplattform für das MECP2-Duplikationssyndrom). Es ist die neue, sichere und von Familien getragene Plattform, die für die MDS-Gemeinschaft ins Leben gerufen wurde.

​REMEDS ist mehr als nur ein Register. Es bringt Community-Umfragen, Studien und Forschungs-Updates für MDS-Familien an einem zentralen und vertrauenswürdigen Ort zusammen. Das macht es einfacher, im eigenen Tempo zur Forschung beizutragen, den Überblick über vergangene Teilnahmen zu behalten und auf dem Laufenden zu bleiben.

​REMEDS ist kostenlos, sicher und darauf ausgelegt, Familien zu unterstützen und gleichzeitig die Forschung gemeinsam voranzubringen.
Mit REMEDS zählt die Stimme jeder einzelnen Familie.

Swipe left for more languages 🇫🇷🇩🇪🇮🇹🇪🇸🇵🇱🇬🇷Time is critical, and research needs more than just money. At DupMECP2, we wor...
03/06/2026

Swipe left for more languages 🇫🇷🇩🇪🇮🇹🇪🇸🇵🇱🇬🇷

Time is critical, and research needs more than just money.
At DupMECP2, we work to catalyze MECP2 Duplication Syndrome research by helping experts focus on what matters most: discovery.
We connect scientists, clinicians, and biotech leaders to build powerful collaborations. We help researchers save time by simplifying processes, easing administrative burdens, and connecting them with the resources they need. Every moment we save means faster progress toward life-changing therapies.
Science needs space to grow — and we’re here to help it thrive.
Together, we can bring better treatments closer, faster.

👉Got an idea? Want to join our mission?
We’d love to hear from you — please get in touch with us!

🇩🇪Zeit ist entscheidend – und Forschung braucht mehr als nur Geld. Bei DupMECP2 arbeiten wir daran, die Forschung zum MECP2-Duplikationssyndrom voranzutreiben, indem wir Experten dabei helfen, sich auf das Wesentliche zu konzentrieren: die Entdeckung. Wir bringen Wissenschaftler, Kliniker und führende Biotechnologieunternehmen zusammen, um leistungsstarke Kooperationen aufzubauen. Wir helfen Forschern, Zeit zu sparen, indem wir Prozesse vereinfachen, den Verwaltungsaufwand verringern und sie mit den benötigten Ressourcen verbinden. Jede Zeitersparnis bedeutet einen schnelleren Fortschritt auf dem Weg zu lebensverändernden Therapien.
Die Wissenschaft braucht Raum, um zu wachsen – und wir sind hier, um ihr dabei zu helfen. Gemeinsam können wir bessere Behandlungen schneller voranbringen.

👉Habt ihr eine Idee? Möchtet ihr euch unserer Mission anschließen?
Wir freuen uns, von euch zu hören – kontaktiert uns!

Behind This Smile: Meet Aleix ✨Aleix is 11 years old and lives in Andorra, a small country nestled in the Pyrenees betwe...
01/06/2026

Behind This Smile: Meet Aleix ✨

Aleix is 11 years old and lives in Andorra, a small country nestled in the Pyrenees between Spain and France. With a Spanish mother and a Dutch father, his life is filled with different cultures, languages, and lots of love. He also has a little brother who adores him.

Aleix loves movement, music, reading (and sometimes destroying!) books, and spending time outdoors. Familiar songs make him smile the most — and he’s known for his great sense of rhythm and love of dancing.

His family describes him as sweet, social, and incredibly resilient. Last year, after breaking both ankles, Aleix spent months in casts and therapy. Despite fears that he might never walk again, he fought his way back, step by step.

His parents share:
"Aleix has taught us patience, resilience, and the importance of appreciating even the smallest victories. Progress is never certain, but every small step forward counts." 💙

Behind Aleix’s smile is a story of courage, determination, and the strength to keep moving forward. His journey reminds us that children with MDS face many challenges, but they also bring immense joy, love, and inspiration to the people around them.


When companies choose to stand with families, real change happens 💛Thank you to Octapharma for this generous donation an...
28/05/2026

When companies choose to stand with families, real change happens 💛
Thank you to Octapharma for this generous donation and for their continued support of the MECP2 Duplication Syndrome community.

This check handover represents more than a number. It represents trust, commitment, and shared values. This contribution will be used to directly support families, helping cover essential needs.

✨ In the coming weeks, we will share more about our Family Support Pilot Program, created for European families of children registered in REMEDS, with the goal of offering concrete, meaningful help when it’s needed most.
We’re grateful to walk this path together.

Thank you for following and for taking the time to watch the short, digested clips from Dr. Coquery’s presentation at th...
27/05/2026

Thank you for following and for taking the time to watch the short, digested clips from Dr. Coquery’s presentation at the Manchester conference.
We hope they helped make a large amount of complex information more understandable and gave you a clearer picture of where Ionis’ clinical research currently stands.

If you have comments, reflections, or specific questions, please don’t hesitate to reach out. You’re very welcome to leave a comment here or send us a private message. We are always listening and learning how to better support the community.

The next planned public research update from Ionis and other research projects for MEC2 Duplication Syndrome will take place at the MECP2 Duplication Syndrome Family Conference in Houston, on 25–26 September 2026.
📍 NRI Houston, Texas
📅 25–26 September 2026
Booking information will be shared as soon as it becomes available.
We look forward to seeing many of you there.

26/05/2026

ATTUNE study status (November 2025)

In this final clip from the Manchester conference, Christine Coquery shares an update on where the ATTUNE study stood in November 2025, at the time of this presentation.

She explains that:
- Cohort 1A (first level dose, older kids) was fully enrolled, thanks to the extraordinary commitment of families, site investigators, and study teams
- Cohorts 1B (first level dose, younger kids) and 2A (second dose level, older kids) were open for enrollment
- Around half of the planned sites were open, with additional sites expected to follow in Canada, Spain, UK and Australia

Christine also addresses a question many families naturally have: when results will be shared.
Because ATTUNE is a blinded, controlled study, it is not possible to interpret or share meaningful data until Part 1 is unblinded. For that reason, no trial data were expected to be shared publicly before that point.

Key message:
📊 As of November 2025, the study was progressing as planned, with enrollment moving forward and data still blinded.

📌 Important context
This update reflects the last publicly shared information, dating from November 2025.
Since then, the study has continued, but no further official public communication has been released at this time.

▶️ Watch the full presentation on YouTube
See timestamps 28:39–30:35 for this section.

Thank you for following this series and for taking the time to understand each step of this journey.
Don’t hesitate to leave a comment or send us a private message if you have any questions.

25/05/2026

What the ATTUNE study is designed to learn

In this clip, Christine Coquery explains what the ATTUNE study is primarily designed to evaluate, and why this first phase focuses above all on safety and tolerability. She walks through the many ways safety is monitored throughout the study. These assessments help ensure that introducing an A*O into the brain does not lead to unexpected changes and that participants are closely followed at every step.

Dr. Coquery also explains how researchers study how ION440 behaves in the body to understand how much of the drug reaches the brain, how the body processes it, and how this relates to safety.

While the study also includes exploratory objectives looking at potential changes in signs and symptoms, it is important to understand that these are exploratory only. Some changes may appear early, others may take longer, and some may not be visible within the study.

Because MECP2 duplication syndrome is highly variable, the study looks at the condition across many different features and over time. This requires a significant commitment from participants and their family but it is essential to ensure that future treatments can address the real and changing needs of individuals and families.

Key message:
🧠 This study is first about safety and learning carefully, so future treatments can be meaningful.

📌 Important context
This is the last publicly shared update, dating from November 2025.
Some elements may have evolved since then, but have not yet been publicly communicated for confidentiality reasons.

▶️ Watch the full presentation on YouTube
See timestamps 20:31-28:38 for this section.
https://www.youtube.com/watch?v=zs0gGOqYvBc
Stay tuned for the next video, where Dr. Coquery shares what the status of the study was in November 2025.

23/05/2026

Who can participate in the ATTUNE trial?
For this part, Christine Coquery focuses on the trial population.
She explains why the ATTUNE study initially includes individuals with specific genetic forms of MECP2 duplication syndrome, and how this choice is guided by what researchers currently understand best about the syndrome.

Because the genetic structure of MECP2 duplication syndrome can be complex, this first in human study involved exclusively participants who are expected to have a two‑fold increase of MeCP2.

Starting here allows the team to build reliable data and use it to guide safe and appropriate dosing for individuals with more complex genetic variants in the future.

Christine also explains why eligibility can never be confirmed with absolute certainty upfront.

While published inclusion and exclusion criteria offer guidance, additional tests during the screening phase are essential, and only then can it be confirmed whether a participant qualifies for the study.

Key message:
“We start where we know the most to build a safe foundation for everyone.”

📌 Important context
This is the last publicly shared update, dating from November 2025.
Some elements may have evolved since then, but have not yet been publicly communicated for confidentiality reasons.

▶️ Watch the full presentation on YouTube
https://www.youtube.com/watch?v=zs0gGOqYvBc
See timestamps 18:25-20:30 for this section.

💬The full script is available in the comments for anyone who would like to read or translate it.

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