Acetyl-DL-leucine case report

11 evidence topics · 1 source

Objective

Stated aim

“This study assessed the effect of 16 weeks N-acetyl-DL-leucine supplementation on ataxia symptoms in a 9-year-old female with AT.” (opens the source at this quote in a new tab)

Background to the report

“Although the positive effects of N-acetyl-DL-leucine on cerebellar ataxia have been reported previously, there is little evidence of N-acetyl-DL-leucine's effects in patients with AT.” (opens the source at this quote in a new tab)

Location and study date

Study design

Single-participant report with scheduled assessments

“Additionally, The Scale for the Assessment and Rating of Ataxia (SARA) score was used to assess the drug's effects on ataxia symptoms at baseline, 6, 12, and 16 weeks.” (opens the source at this quote in a new tab)
“Safety was assessed via clinical blood chemistry prior to the intervention and after 6 and 16 weeks.” (opens the source at this quote in a new tab)

Eligibility criteria

Not applicable.

Treatment

N-acetyl-DL-leucine dose and duration

“The subject consumed 4 g/day N-acetyl-DL-leucine (2 g in the morning and 2 g in the evening) for 16 weeks.” (opens the source at this quote in a new tab)

Study outcomes

Rationale for using SARA score as an efficacy outcome

Outcome measures

“Additionally, The Scale for the Assessment and Rating of Ataxia (SARA) score was used to assess the drug's effects on ataxia symptoms at baseline, 6, 12, and 16 weeks.” (opens the source at this quote in a new tab)
“Quality of life has also been evaluated by a specialist using the PedsQL questionnaire.” (opens the source at this quote in a new tab)

Statistical analysis description

Number of participants (Planned and analyzed)

Individual participant

“Supplementation with N-acetyl-DL-leucine at a dose of 4 g/day for 16 weeks was well tolerated and significantly improved ataxia symptoms and quality of life measures in a young child with AT.” (opens the source at this quote in a new tab)

Description of analysis sets

Not applicable.

Results

Participant disposition

No evidence found.

Baseline characteristics

Age and sex

Characteristic	Value
Participant	“a 9-year-old female with AT”

Efficacy results

SARA score at week 16

“The SARA score progressively improved, and by week 16 had improved by 11.0 points (48.88%).” (opens the source at this quote in a new tab)

Health-related quality of life and patient-reported outcomes

PedsQL domains at week 16

“Parent and self-reported quality of life assessments indicated physical, emotional, social, and school functions all improved by 16 weeks.” (opens the source at this quote in a new tab)

Safety results

Tolerability and blood chemistry

“Despite some initial (first week only) nausea and constipation, supplementation with N-acetyl-DL-leucine was well tolerated and safe according to blood chemistry measures.” (opens the source at this quote in a new tab)

Study limitations

Summary

The report describes one participant, a 9-year-old girl, treated with the racemate N-acetyl-DL-leucine at 4 g per day for 16 weeks without a comparator. The abstract gives the change in SARA score (11.0 points, 48.88%) without the baseline score and does not describe blinding of the assessor. Nausea and constipation occurred in the first week. The evidence quoted here comes from the article's abstract.