Table 1 Standard assessments at treatment start and during follow up

General

 · Complete physical examination

✔

Every 3–6 months

Clinical parameters of neurological disease

 · NP-C functional disability scale

✔

Every 6–12 months

 · Video recording

✔

Every 6–12 months

 · Epileptic seizures

✔

Every 6–12 months

 · Narcolepsy/cataplexy

✔

Every 6–12 months

Other measures

 · Psychometric evaluations

✔

Every 6–12 months

 · Hearing

✔

Every 6–12 months

 · Abdominal ultrasound

✔

Depending on initial findings

 · Chest X-ray

✔

Initial assessment and depending on clinical evolution

Laboratory parameters

 · Liver function

✔

Every 6–12 months

 · Haematology (blood counts)

✔

Every 6–12 months

 · Plasma chitotriosidase (optional)

✔

Initial assessment

Cerebral imaging

 · MRI or MRS (magnetic resonance spectroscopy)*

✔

Every 12 months