Disease

atypical Rett syndrome

Also known as Rett syndrome variant, atypical RTT, Rett like syndrome.

Associated genes

Related proteins

What's happening now

An analyst briefing on current research, clinical, regulatory and industry activity surrounding this disease.

No activity recorded in this window. Try a wider timeframe.

Therapeutic landscape

Therapies with a regulatory footing for this condition, alongside the wider set of agents co-studied with it in the literature.

Approved & established therapies

Eculizumabapproved

Approval — Epysqli is indicated in adults and children for the treatment of:- Paroxysmal nocturnal h… (2023)

Ravulizumabapproved

Approval — Paroxysmal nocturnal haemoglobinuria (PNH)Ultomiris is indicated in the treatment of adul… (2019)

Regulatory timeline

Drug regulatory events matched to this condition by indication — EMA.

First approvals

2023emaApproval — Eculizumab· Epysqli is indicated in adults and children for the treatment of:- Paroxysmal nocturnal haemoglobinuria (PNH).Evidence of clinical benefit is demonstrated in patients with haemolysis with clinical symptom(s) indicative of high disease activity, regardless of transfusion history.- Atypical haemolytic uremic syndrome (aHUS). source ↗

2019emaApproval — Ravulizumab· Paroxysmal nocturnal haemoglobinuria (PNH)Ultomiris is indicated in the treatment of adult and paediatric patients with a body weight of 10 kg or above with PNH:- in patients with haemolysis with clinical symptom(s) indicative of high disease activity.- in patients who are clinically stable after having been treated with eculizumab for at least the past 6 months (see section 5.1). Atypical haemolytic uremic syndrome (aHUS)Ultomiris is indicated in the treatment of patients with a body weight of 10 kg or above with aHUS who are complement inhibitor treatment-naïve or have received eculizumab for at least 3 months and have evidence of response to eculizumab (see section 5.1). Generalized myasthenia gravis (gMG)Ultomiris is indicated as an add-on to standard therapy for the treatment of adult patients with gMG who are anti-acetylcholine receptor (AChR) antibody-positive. Neuromyelitis Optica Spectrum Disorder (NMOSD)Ultomiris is indicated in the treatment of adult patients with NMOSD who are anti-aquaporin 4 (AQP4) antibody-positive (see section 5.1). Ultomiris is indicated in the treatment of adult patients with paroxysmal nocturnal haemoglobinuria (PNH):- in patients with haemolysis with clinical symptom(s) indicative of high disease activity.- in patients who are clinically stable after having been treated with eculizumab for at least the past 6 months. Ultomiris is indicated in the treatment of adult patients with atypical haemolytic uremic syndrome (aHUS) who are complement inhibitor treatment-naïve or have received eculizumab for at least 3 months and have evidence of response to eculizumab. source ↗

2007emaAccelerated approval — Eculizumab· Soliris is indicated in adults and children for the treatment of: Paroxysmal nocturnal haemoglobinuria (PNH). Evidence of clinical benefit is demonstrated in patients with haemolysis with clinical symptom(s) indicative of high disease activity, regardless of transfusion history (see section 5.1).  Atypical haemolytic uremic syndrome (aHUS). Soliris is indicated in adults for the treatment of: Refractory generalized myasthenia gravis (gMG) in patients who are anti-acetylcholine receptor (AChR) antibody-positive (see section 5.1). Neuromyelitis optica spectrum disorder (NMOSD) in patients who are anti-aquaporin-4 (AQP4) antibody-positive with a relapsing course of the disease. source ↗

European Medicines Agency (CC BY 4.0). Events are matched to this condition by drug indication text — approvals/updates for drugs indicated for it, not disease-specific acts.

Associated genes

6 matches

Genes associated with this disease in the canonical knowledge graph (Open Targets evidence). Number shows the association score.

MECP20.73 CDKL50.65 GABBR20.60 SMC1A0.46 FOXG10.38 NTNG10.37

Disease biology

2 matches

Proteins whose encoding gene is associated with this disease, reached through the canonical gene→disease graph. Number shows the gene's association score.

Methyl-CpG-binding protein 2via MECP20.73 Gamma-aminobutyric acid type B receptor subunit 2via GABBR20.60

Reference

Authoritative identity, definition & identifiers.

Synonyms

Rett syndrome variant, atypical RTT, Rett like syndrome

References & data sources

Disease identity & definition — NLM Medical Subject Headings (MeSH), public domain
Related entities are derived from literature co-mention (studied together) — associative, not causal.