Pontocerebellar hypoplasia

MONDO:0020135

Pontocerebellar hypoplasias (PCH) are a rare heterogeneous group of diseases characterized by hypoplasia and atrophy and/or early neurodegeneration of the cerebellum and pons. Eight subtypes named type 1-8 have been described, generally inherited in an autosomal recessive pattern.

Also known as: PCH, pontocerebellar hypoplasia, pontoneocerebellar atrophy, pontoneocerebllar hypoplasia, isolated pontocerebellar hypoplasia, nonsyndromic pontocerebellar hypoplasia

4 clinical trials for this condition and its sub-types, 1 tagged with Pontocerebellar hypoplasia itself.

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Where it sits in the disease tree

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↑ Hereditary neurological disease (5772) ↑ Central nervous system malformation (51)

Sub-types of Pontocerebellar hypoplasia

Pontocerebellar hypoplasia type 6 2 trials
Pontocerebellar hypoplasia type 1 0 trials
3 sub-types
- Pontocerebellar hypoplasia type 1A 0 trials
- Pontocerebellar hypoplasia type 1B 0 trials
- Pontocerebellar hypoplasia, type 1C 0 trials
Pontocerebellar hypoplasia type 10 0 trials
Pontocerebellar hypoplasia type 2 0 trials
5 sub-types
- Pontocerebellar hypoplasia type 2A 0 trials
- Pontocerebellar hypoplasia type 2B 0 trials
- Pontocerebellar hypoplasia type 2C 0 trials
- Pontocerebellar hypoplasia type 2D 0 trials
- Pontocerebellar hypoplasia, type 2F 0 trials
Pontocerebellar hypoplasia type 2E 0 trials
Pontocerebellar hypoplasia type 3 0 trials
Pontocerebellar hypoplasia type 4 0 trials
Pontocerebellar hypoplasia type 5 0 trials
Pontocerebellar hypoplasia type 7 0 trials
Pontocerebellar hypoplasia type 8 0 trials
Pontocerebellar hypoplasia type 9 0 trials
Pontocerebellar hypoplasia, IIA 17 0 trials
Pontocerebellar hypoplasia, type 11 0 trials
Pontocerebellar hypoplasia, type 12 0 trials
Pontocerebellar hypoplasia, type 13 0 trials
Pontocerebellar hypoplasia, type 14 0 trials
Pontocerebellar hypoplasia, type 15 0 trials
Pontocerebellar hypoplasia, type 16 0 trials
Pontocerebellar hypoplasia, type 1D 0 trials
Pontocerebellar hypoplasia, type 1E 0 trials
Pontocerebellar hypoplasia, type 1F 0 trials

Including sub-types (4) Tagged with Pontocerebellar hypoplasia (1)

Trials to join now! 2 Completed 1 Terminated 1

Long-Term safety of mitochondrial drug confirmed in 101 patients

Disease control Completed

This study looked at the safety of vatiquinone in 101 people with inherited mitochondrial disease who had already taken the drug in a previous study or treatment plan. The goal was to track any side effects until the drug became commercially available or the program ended. Partic…

Phase 3 • Sponsor: PTC Therapeutics • Aim: Disease control

Last updated Jun 27, 2026 08:05 UTC

Pontocerebellar hypoplasia

Where it sits in the disease tree

Long-Term safety of mitochondrial drug confirmed in 101 patients