CDKL5 Family
Educational Conference

Welcome and opening

• Welcome remarks from the president
• Introduction by the scientific committee, (The speaker is yet to be confirmed.)

Module 1 — Understanding CDKL5

Essential foundations for everyone — from genetics to clinical care.

• How CDD presents: diagnosis, care pathway, clinical progression — (The speaker need to be confirmed.)
• Mildly impaired profile (MIDD) — (The speaker is yet to be confirmed.)
• Care recommendations — Prof. Amin (15 min)
• Roundtable: coordination between centers of excellence and patient groups — Pr Amin / Pr Benke — (Other speakers need to be confirmed.) (30 min)
(30 min)
• 🎤 10 minutes of general audience questions

Refreshment break & posters

Module 2 — Advances in research

Where does the science stand today?

• The CDKL5 gene and its mutations: molecular mechanisms — (The speaker need to be confirmed.) (15 min)
• Research progress over the past 12 months: gene therapy, mRNA, gene reactivation — (The speaker need to be confirmed.) (15 min)
• Spotlight on enzyme replacement — (The speaker need to be confirmed.)(15 min)
• Spotlight on X reactivation — (The speaker need to be confirmed.) (15 min)
• Spotlight on gene therapy (The speaker need to be confirmed.) (15 min)
• 🎤 15-minute final roundtable: "How do we move from research to clinical care?"

Lunch

Module 3 — From the laboratory to treatment

How does a treatment become accessible?

• Specific aspects of pediatric research in rare diseases — Prof. Downs (15 min)
• Major stages of drug development — Amélie Lote (UCB) (15 min)
• CANDID study data analyses — (The speaker need to be confirmed.) (10 min)
• ELPIS Global Biomarker Study update — Prof. Bianchi (10 min)
• Current or upcoming CDKL5 trials — (speaker to be confirmed) (10 min)
• Testimonial from a family that participated in a clinical trial (French family TBC) (15 min)

Module 4 — Participatory research and the role of families

How can everyone help advance research and care?

• CDKL5 registry and international databases — (speaker to be confirmed)(15 min)
• Summary of Thursday's roundtable — (speaker to be confirmed) (15 min)
• Open discussion: "How can researchers and families work better together?" — Prof. Benke (30 min)
• "Our priorities for CDKL5 research" workshop — group feedback

Refreshment break & posters

Module 5 — Hopes and perspectives

• International guest testimonial, (Loulou Foundation) (speaker to be confirmed)
• Presentation of an innovation project — Prof. Benke — (Other speaker to be confirmed)
• 🎶 Closing on a note of unity: group activity (singing, music therapy…)

General summary & group photo

• General summary — (Speaker to be confirmed)
• Thanks to the speakers and volunteers
• Group photo & informal gathering

Dinner

Module 1 — Nutrition

French expertise • Video testimonials from families • International roundtable "And at your place, how is it going?"

Module 2 — Motor therapies

French expertise • Video testimonials from families • International roundtable "And at your place, how is it going?"

Break

Module 3 — Augmentative and alternative communication (AAC)

French expertise • Video testimonials from families • International roundtable "And at your place, how is it going?"

Module 4 — Visual particularities

French expertise • Video testimonials from families • International roundtable "And at your place, how is it going?"

• Adult care: "And at home, how is adult care organized?"
• Complementary theme (if time allows): osteoporosis and bone health

Conclusion — Crossed views and sharing of practices

Lunch

Afternoon dedicated to families

Friendly activities for children with CDD, their siblings and their families.

• Music therapy
• Tibetan bowls
• Dance therapy