Microphthalmia, isolated, with coloboma 5

MONDO:0012709

Any microphthalmia, isolated, with coloboma in which the cause of the disease is a mutation in the SHH gene.

Also known as: SHH microphthalmia, isolated, with coloboma, Shh microphthalmia, isolated, with coloboma, microphthalmia with coloboma 5, microphthalmia, isolated, with coloboma 5, microphthalmia, isolated, with coloboma caused by mutation in SHH, microphthalmia, isolated, with coloboma caused by mutation in Shh, microphthalmia, isolated, with coloboma type 5, MCOPCB5

1 clinical trial for this condition and its sub-types, 1 tagged with Microphthalmia, isolated, with coloboma 5 itself.

Follow this condition to get notified about new trials

Where it sits in the disease tree

Browse by category →

Part of

↑ Microphthalmia, isolated, with coloboma (1)

Including sub-types (1) Tagged with Microphthalmia, isolated, with coloboma 5 (1)

Terminated 1

Promising drug for recurrent brain tumor in kids falls short in early trial

Disease control Stopped early

This study tested an oral drug called CX-4945 (silmitasertib) in 21 children with recurrent SHH medulloblastoma, a rare brain tumor. The trial aimed to find the best dose and see if the drug could shrink tumors. However, the study was stopped early, so we don't have clear answers…

Phase 1/2 • Sponsor: Pediatric Brain Tumor Consortium • Aim: Disease control

Last updated Jun 27, 2026 07:56 UTC

Microphthalmia, isolated, with coloboma 5

Where it sits in the disease tree

Promising drug for recurrent brain tumor in kids falls short in early trial