Free sialic acid storage disease

MONDO:0019366

Free sialic acid storage disease (free SASD), is a group of lysosomal storage diseases characterized by a spectrum of clinical manifestations including neurological and developmental disorders with severity ranging from the milder phenotype, Salla disease (SD), to the most severe phenotype, infantile free sialic acid storage disease (ISSD).

Also known as: free sialic acid storage disease

3 clinical trials for this condition and its sub-types, 2 tagged with Free sialic acid storage disease itself.

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Where it sits in the disease tree

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Part of

↑ Inborn disorder of lysosomal amino acid transport (15)

Sub-types of Free sialic acid storage disease

Salla disease 2 trials
Sialuria 1 trial
Free sialic acid storage disease, infantile form 0 trials
Intermediate severe Salla disease 0 trials

Including sub-types (3) Tagged with Free sialic acid storage disease (2)

Trials to join now! 2 Completed 1

Could a single DNA test solve the mystery of rare brain diseases in kids?

Knowledge-focused Completed

This study looked at whether whole genome sequencing (a complete read of a person's DNA) can help diagnose leukodystrophies, a group of rare brain diseases that are hard to identify. Researchers enrolled 236 children with white matter abnormalities on brain scans but no known gen…

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

Last updated Jun 27, 2026 07:56 UTC

Free sialic acid storage disease

Where it sits in the disease tree

Could a single DNA test solve the mystery of rare brain diseases in kids?