L-carnitine supplementation for Neurofibromatosis type 1 muscle weakness and fatigue.

• Register: ANZCTR
• Last refreshed on: 30 May 2022
• Main ID: ACTRN12618002021257
• Date of registration: 17/12/2018
• Prospective Registration: Yes
• Primary sponsor: The Children's Hospital at Westmead
• Public title: L-carnitine supplementation for Neurofibromatosis type 1 muscle weakness and fatigue.
• Scientific title: A single centre, 12-week, single arm trial to examine compliance, safety and efficacy of daily L-carnitine supplementation (1000mg) for the treatment of childhood Neurofibromatosis Type 1 (NF1)- associated muscle weakness and fatigue.
• Date of first enrolment: 13/06/2019
• Target sample size: 6
• Recruitment status: Completed
• URL: https://anzctr.org.au/ACTRN12618002021257.aspx
• Study type: Interventional
• Study design: Purpose: Treatment; Allocation: Non-randomised trial; Masking: Open (masking not used);Assignment: Single group;Type of endpoint: Safety/efficacy;
• Phase: Not Applicable

Countries of recruitment

Australia

Contacts

• Name: A/Prof Aaron Schindeler

• Name: A/Prof Aaron Schindeler

Key inclusion & exclusion criteria

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)


Age minimum: 8 Years
Age maximum: 12 Years
Gender: Both males and females

Health Condition(s) or Problem(s) studied

Musculoskeletal - Other muscular and skeletal disorders

Metabolic and Endocrine - Other metabolic disorders

Human Genetics and Inherited Disorders - Other human genetics and inherited disorders

Neurofibromatosis type 1;
Neurofibromatosis type 1

Intervention(s)

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).

Primary Outcome(s)

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.]

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.]

Secondary Outcome(s)

Handwriting assessed through handwriting speed test. [0, 6 and 12 week time points]

Endurance assessed through the 6 minute walk test.[0, 6 and 12 week time points]

Gait assessed through gait analysis (heel and tip-toe walking).[0, 6 and 12 week time points]

Patient reported questionnaires will be given to participants. The first will be the PedsQL (Neuromuscular and Generic Core modules).[0, 12 week, and optional 3 month follow up]

Multiple measures of strength will be addressed by hand-held dynamometry. The second measure will be lower leg plantarflexion.

[0, 6 and 12 week time points]

Body composition measured through bio electrical impedance. [0, 6 and 12 week time points]

Multiple measures of strength will be addressed by hand-held dynamometry. The third measure will be lower leg dorsiflexion.[0, 6 and 12 week time points]

Blood tests will be performed for multiple biochemical outcomes. The second will be serum lipids.
[0 and 12 week time points]

Blood tests will be performed for multiple biochemical outcomes. The first will be serum carnitine.
[0 and 12 week time points]

Multiple measures of strength will be addressed by hand-held dynamometry. The first measure will be grip strength.[0, 6 and 12 week timepoints]

Patient reported questionnaires will be given to participants. The second will be the Child Behaviour Checklist.[0, 12 week, and optional 3 month follow up]

Power assessed through long jump test.[0, 6 and 12 week time points]

Secondary ID(s)

Nil known

Source(s) of Monetary Support

The Children’s Hospital at Westmead

Ethics review

Status: Approved
Approval date: 11/09/2018
Contact:

Sydney Children's Hospitals Network Human Research Ethics Committee

Results

• Results available: Yes
• Date Posted: 23/05/2022
• Date Completed: 31/12/2019