Information platform
Genetic treatments
Gene-targeted treatments have entered clinical use: what has happened in spinal muscular atrophy, in Dravet syndrome and in Angelman syndrome shows it. On this platform we set out concepts such as antisense oligonucleotides, CRISPR and gene therapy in plain language, and keep the development pipelines up to date disease by disease.
Disease pipelines
Treatment development pipelines
For each disease: the reasoning behind the gene-targeted strategy, the candidate treatments and the stage each has reached, as of October 2026. The pipeline pages are written in Turkish.
RMECP2
Rett Sendromu
- Trofinetid — Approved
- Fenfluramin — Phase 3
- TSHA-102 — Phase 1/2
AUBE3A
Angelman Sendromu
- GTX-102 — Phase 3
- ION582 — Phase 3
- SKY-AS — Preclinical
FFMR1
Frajil X Sendromu
- Zatolmilast — Discontinued
- FMR1 kilidini açma — Preclinical
- Metformin — Phase 1/2
SSCN2A
SCN2A ile İlişkili Bozukluklar
- Elsunersen (PRAX-222) — Phase 1/2
- Relutrigin (PRAX-562) — Phase 3
- Mevcut hassas tıp — Approved
DSCN1A
Dravet Sendromu
- Stiripentol · kannabidiol · fenfluramin — Approved
- Zorevunersen (STK-001) — Phase 3
- ETX101 — Phase 1/2
SSMN1 / SMN2
Spinal Müsküler Atrofi (SMA)
- Nusinersen — Approved
- Onasemnogene abeparvovec — Approved
- Risdiplam — Approved
DDMD (distrofin)
Duchenne Musküler Distrofisi
- Kortikosteroidler · vamorolone · givinostat — Approved
- Ekson atlama ASO'ları (51 · 53 · 45) — Approved
- Delandistrogene moxeparvovec — Approved
DTrizomi 21
Down Sendromu
- Erken müdahale + eşlik eden sorun yönetimi — Approved
- DYRK1A hedefli yaklaşımlar (ör. EGCG) — Phase 1/2
- Down'a özgü Alzheimer önleme çalışmaları — Phase 1/2
TTSC1 / TSC2
Tuberoz Skleroz Kompleksi (TSC)
- Everolimus — Approved
- Vigabatrin — Approved
- Kannabidiol (Epidyolex) — Approved
AATM
Ataksi-Telenjiektazi (A-T)
- Levasetillösin (Aqneursa®) — Approved
- IVIG + enfeksiyon/akciğer koruması — Approved
- Eritrosit-içi deksametazon (EryDex) — Phase 3
SSYNGAP1
SYNGAP1 İlişkili Bozukluk
- Nöbet tipine uygun ilaç tedavisi — Approved
- Ketojenik diyet — Approved
- SYNGAP1 düzeyini artıran ASO programları — Preclinical
FFOXG1
FOXG1 Sendromu
- Semptomatik tedavi paketi — Approved
- FRF-001 — Phase 1/2
Why this platform
Families often hear news of a treatment through social media, in incomplete or overstated form. Our aim is to separate clearly and plainly what is approved from what is still at the research stage.
Write to us with questions