| Niemann–Pick disease | Under evaluation in current clinical studies (type B) | Prevention or improvement of dysphagia and airway aspiration (type C) [118] | Regression of infiltrates at chest imaging (type B and C) [32, 138] | Not available |
| Gaucher disease | Improved respiratory compliance/decreased dyspnoea and pulmonary hypertension (type I) No significant improvement of chest imaging (type I and III) [15, 140, 141] | Improvement of lung function and pulmonary hypertension (type I and III) [142–144] | Not evaluated | Only preclinical studies (type I, II and III), no evaluated effects on respiratory manifestations |
| Fabry disease | Stability of pulmonary symptoms, but no improvement of lung function [145] | Not available | Not available | Ongoing clinical phase III trials, no evaluated effects on respiratory manifestations |
| Pompe disease | Low risk of ventilation [149] Reduced duration of ventilator dependence [150] Improved lung function [151] | Ongoing preclinical studies, not evaluated effects on respiratory manifestations | Not available | Ongoing clinical trials, no evaluated effects on respiratory manifestations |
| Mucopolysaccharidoses | Improved lung function Reduced apnoea/hypopnoea index (type I) [154–158] Under evaluation in current clinical studies (type IVA) Not evaluated in type II and VI | Under evaluation in current clinical studies (type III) | Improved lung function, reduced upper airways obstruction and incidence of difficult airway management, discontinuation of mechanical ventilation (type I) [163, 164, 167] Improved obstructive sleep apnoea (type I, VI, VII) | Only preclinical trials (type I and III), not evaluated effects on respiratory manifestations |