None listed
Conditions
Brief summary
Neurofibromatosis Type 1 (NF1) is a genetic disorder that affects around 1:3000 individuals worldwide. Individuals with NF1 present with a number of different clinical features including a high tumour burden, skeletal abnormalities and learning difficulties. However, low muscle tone, muscle weakness and fatigue associated with NF1 are being increasingly appreciated as major burdens of disease. These can lead to significant functional impairment and reduced quality of life in children, particularly when combined with other features of NF1 such as learning and behavioural difficulties. A 2006 study showed that approximately 30% of all children with NF1 had low self-concept for physical abilities, which continued into adolescence. There is strong preclinical evidence and anecdotal patient reports to suggest that daily L-carnitine will lead to significant improvements in muscle function (particularly fatiguability) and quality of life in individuals with NF1. While tumor burden and risk of malignancy can be devastating for affected individuals, musculoskeletal complications such as muscle weakness, scoliosis, and learning difficulties are the most common quality of life burdens in a pediatric setting. L-carnitine supplementation represents a low impact, low cost intervention that could yield major quality of life improvements in a large number of individuals. The hypothesis to be tested is ‘low dose daily L-carnitine supplementation (1000mg, two divided doses) consumed for 12 weeks is safe and feasible, and will improve muscle strength and endurance in children with NF1.
Interventions
1000 mg daily L-carnitine supplementation for 12 weeks (500 mg oral capsules are to be taken twice daily - once in the morning and once at night).
Sponsors
The Children's Hospital at Westmead
Study design
Allocation
Non-randomised trial
Intervention model
Single group
Primary purpose
Treatment
Masking
Open (masking not used)
Eligibility
Sex/Gender
All
Age
8 Years to 12 Years
Healthy volunteers
No
Inclusion criteria
• Children aged between 8-12 years old • Children with a confirmed clinical diagnosis of NF1 through fulfilling at least two of the NIH diagnostic criteria for NF1 and/or genetic testing • Children with a medical history of muscle weakness and/or fatigue • Children that are naïve to nutraceutical supplements, including L-carnitine, and dietary modifications.
Exclusion criteria
• Children with cognitive impairment, an intellectual disability, or a mental illness • Children with insufficient knowledge of the English language to complete the required questionnaires during the study • Children who suffer from seizures • Children with NF1 skeletal abnormalities (e.g. tibial bowing or pseudarthrosis), acute foot or lower limb injuries (e.g. fracture or ankle sprain) • Children who are unable to comply with the research protocol (e.g. prolonged absence)
Outcome results
None listed