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Hypomyelination with brain stem and spinal cord involvement and leg spasticity

MONDO:0014115

Also known as: HBSL, aspartyl-tRNA synthetase deficiency, hypomyelination with brainstem and spinal cord involvement and leg spasticity

2 clinical trials for this condition and its sub-types, 2 tagged with Hypomyelination with brain stem and spinal cord involvement and leg spasticity itself.

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Part of

↑ Leukodystrophy (72)

Including sub-types (2) Tagged with Hypomyelination with brain stem and spinal cord involvement and leg spasticity (2)

Trials to join now! 1 Completed 1

Massive leukodystrophy biobank aims to unlock disease secrets

Knowledge-focused Recruiting now

This study collects medical information and biological samples (like blood or tissue) from up to 12,000 people with leukodystrophies—rare disorders that damage the brain's white matter. Researchers will use this data to find new genetic causes, develop biomarkers for future trial…

Sponsor: Children's Hospital of Philadelphia • Aim: Knowledge-focused

Last updated Jun 27, 2026 07:55 UTC