Abstract | BACKGROUND: OBJECTIVE: We collated evidence for the effectiveness of pharmacological and gene-based treatments for hereditary peripheral neuropathies. METHODS: We searched several databases for randomised controlled trials (RCT), observational studies and case reports of therapies in hereditary peripheral neuropathies. Two investigators extracted and analysed the data independently, assessing study quality using the Oxford Centre for Evidence Based Medicine 2011 Levels of Evidence in conjunction with the Jadad scale. RESULTS: CONCLUSIONS: The 'treatable' variants highlighted in this project will be flagged in the treatabolome database to alert clinicians at the time of the diagnosis and enable timely treatment of patients with hereditary peripheral neuropathies.
|
Authors | Matthew J Jennings, Angela Lochmüller, Antonio Atalaia, Rita Horvath |
Journal | Journal of neuromuscular diseases
(J Neuromuscul Dis)
Vol. 8
Issue 3
Pg. 383-400
( 2021)
ISSN: 2214-3602 [Electronic] Netherlands |
PMID | 32773395
(Publication Type: Systematic Review)
|
Topics |
- Amyloid Neuropathies, Familial
(drug therapy)
- Charcot-Marie-Tooth Disease
(drug therapy)
- Hereditary Sensory and Motor Neuropathy
(drug therapy)
- Humans
|