WorldSymposium - Lysosomal Disease Research

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Glossary

1

Lysosomal storage disorder (LSD)

A group of inherited metabolic diseases caused by defects in lysosomal enzymes, transporters, or related proteins. Substrates build up in cells and drive progressive organ and neurological damage.

2

Enzyme replacement therapy (ERT)

A treatment that delivers a recombinant form of a missing or deficient lysosomal enzyme, usually by intravenous infusion, to reduce substrate accumulation in affected tissues.

3

Chaperone therapy

A small-molecule approach that helps a misfolded or unstable lysosomal enzyme fold correctly and retain function, often used for selected responsive mutations.

4

Substrate reduction therapy (SRT)

Treatment that lowers the production of the substrate that accumulates in a lysosomal disease, balancing substrate inflow against the cell's reduced clearance capacity.

5

Gene therapy

An investigational strategy that introduces a functional gene copy, often using viral vectors, to provide sustained enzyme production or correct disease mechanisms in lysosomal disorders.

6

Newborn screening (NBS)

Population-based testing of dried blood spots shortly after birth to identify infants at risk of treatable disorders, including selected lysosomal storage diseases.

7

Dried blood spot (DBS)

A small blood sample collected on filter paper and used for newborn screening and certain enzyme or biomarker assays.

8

Biomarker

A measurable biological indicator, such as an enzyme activity, substrate level, or imaging finding, used to assess disease status, progression, or treatment response.

9

Natural history study

A study that follows patients over time without assigning a new treatment, helping researchers understand disease progression and select endpoints for clinical trials.

10

Clinical endpoint

A pre-specified outcome used to judge whether a treatment provides benefit, such as organ function, motor ability, respiratory measures, or biomarker change.

11

Multidisciplinary clinic

A care model in which genetics, neurology, cardiology, nephrology, orthopaedics, nursing, and allied health professionals coordinate lysosomal disease management in one setting.

12

Gaucher disease

A lysosomal storage disorder caused by glucocerebrosidase deficiency, with haematological, skeletal, and sometimes neurological manifestations depending on subtype.

13

Fabry disease

An X-linked lysosomal disorder caused by alpha-galactosidase A deficiency, affecting kidneys, heart, skin, nerves, and cerebrovascular risk.

14

Pompe disease

A lysosomal storage disorder caused by acid alpha-glucosidase deficiency, leading to progressive muscle weakness and respiratory involvement across infantile and later-onset forms.

15

Mucopolysaccharidosis (MPS)

A family of lysosomal storage disorders caused by glycosaminoglycan breakdown defects, with multisystem features that can include skeletal, cardiac, respiratory, and neurological involvement.

16

Neuronal ceroid lipofuscinosis (CLN)

A group of inherited neurodegenerative lysosomal disorders, often beginning in childhood, with visual loss, seizures, cognitive decline, and motor impairment.

17

Blood-brain barrier (BBB) challenge

The difficulty of delivering therapies to the central nervous system in lysosomal diseases with neurological involvement, a major focus for intrathecal, receptor-targeted, and gene therapy approaches.

18

Patient registry

A structured database that collects longitudinal clinical and patient-reported data to support natural history research, trial planning, and post-marketing surveillance.