Abstract
Objectives
Charcot-Marie-Tooth disease type 1 (CMT1) is a peripheral neuropathy, predominantly caused by a duplication of the PMP22 gene, resulting in abnormal levels of PMP22 protein and subsequent myelin production failure. This study examines the therapeutic potential of PXT3003, a novel fixed-dose combination of baclofen, naltrexone, and sorbitol, in improving neuromuscular function in CMT1A patients.
Materials and Methods
Case report
Results
A 12-year-old boy clinically and genetically diagnosed with Charcot-Marie-Tooth disease type 1A (CMT1A) presented with profound motor limitations, decessitating wheelchair use since early childhood. Despite normal cognitive development, delays in motor milestones were evident, and genetic testing confirmed the presence of the characteristic PMP22 gene duplication on chromosome 17. Initiation of PXT3003 therapy demonstrated notable improvements in physical activity without significant adverse effects, despite the patient's limited engagement in physical rehabilitation.
Conclusions
This case underscores the potential benefits of PXT3003 therapy for CMT1A patients. The promising results warrant further research to validate its efficacy and safety in a broader patient population. Developing effective therapies for CMT1A holds significant potential for improving the lives of affected individuals and their families.
Charcot-Marie-Tooth disease type 1 (CMT1) is a peripheral neuropathy, predominantly caused by a duplication of the PMP22 gene, resulting in abnormal levels of PMP22 protein and subsequent myelin production failure. This study examines the therapeutic potential of PXT3003, a novel fixed-dose combination of baclofen, naltrexone, and sorbitol, in improving neuromuscular function in CMT1A patients.
Materials and Methods
Case report
Results
A 12-year-old boy clinically and genetically diagnosed with Charcot-Marie-Tooth disease type 1A (CMT1A) presented with profound motor limitations, decessitating wheelchair use since early childhood. Despite normal cognitive development, delays in motor milestones were evident, and genetic testing confirmed the presence of the characteristic PMP22 gene duplication on chromosome 17. Initiation of PXT3003 therapy demonstrated notable improvements in physical activity without significant adverse effects, despite the patient's limited engagement in physical rehabilitation.
Conclusions
This case underscores the potential benefits of PXT3003 therapy for CMT1A patients. The promising results warrant further research to validate its efficacy and safety in a broader patient population. Developing effective therapies for CMT1A holds significant potential for improving the lives of affected individuals and their families.
| Original language | English |
|---|---|
| Pages | 23 |
| Number of pages | 1 |
| Publication status | Published - 2024 |
| Externally published | Yes |
| Event | 17th Conference of Baltic Child Neurology Association - Jurmala , Latvia Duration: 23 May 2024 → 25 May 2024 Conference number: 17 https://www.bcna2024.lv/ |
Conference
| Conference | 17th Conference of Baltic Child Neurology Association |
|---|---|
| Country/Territory | Latvia |
| City | Jurmala |
| Period | 23/05/24 → 25/05/24 |
| Internet address |
Keywords*
- case report
- Charcot-Marie-Tooth disease
Field of Science*
- 3.2 Clinical medicine
- 3.1 Basic medicine
Publication Type*
- 3.4. Other publications in conference proceedings (including local)