carnitine supplementation for Neurofibromatosis type 1 muscle weakness and fatigue.

Not Applicable

Completed

• Conditions: eurofibromatosis type 1; Neurofibromatosis type 1; Musculoskeletal - Other muscular and skeletal disorders; Metabolic and Endocrine - Other metabolic disorders; Human Genetics and Inherited Disorders - Other human genetics and inherited disorders

• Registration Number: ACTRN12618002021257
• Lead Sponsor: The Children's Hospital at Westmead

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Results First Posted: 1900-01-01
• Study Start: 2018-12-17
• Study Completion: 2019-12-31
• Last Update Posted: 30 May 2022

Recruitment & Eligibility

• Status: Completed
• Sex: All
• Target Recruitment: 6

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)

Study & Design

• Study Type: Interventional
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Safety will be assessed through adverse-event reporting, Possible adverse events are mild and include a fishy body odour, diarrhea, and vomiting. Individuals are encouraged to report these and will be followed up by a weekly phone call. These will be managed clinically by dose reduction and/or cessation of treatment. A urine sample will be tested at the study end point to confirm normal kidney and liver function.[Safety will be assessed throughout the entire experimental period of 12 weeks, and urine will be tested at the 12 week time point.];Compliance will be assessed through counting the number of L-carnitine capsules remaining at the end of the study and subtracting it from the known number of L-carnitine capsules dispensed at the beginning of the trial.[Determined at the 12 week time point.]