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First use of creatine hydrochloride in premanifest Huntington disease

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Huntington disease is a devastating autosomal dominant neurodegenerative disorder that typically manifests between ages 30 and 50 years. Promising high-dose creatine monophosphate trials have been limited by patient tolerance. This is the first report of use of creatine hydrochloride in two premanifest Huntington disease patients, with excellent tolerability over more than 2 years of use.

Clinical record

A 33-year-old patient in our general practice carried the autosomal dominant gene for Huntington disease (HD). The abnormal number of cytosine-adenine-guanine triplet repeats in the huntingtin gene she carried meant she would eventually become symptomatic for this dreadful disease.

The patient requested information regarding potential treatments, as she had become aware of clinical trials for HD and of compounds used by patients with HD. A neurologist had previously recommended a healthy diet, exercise, avoiding excessive toxins (such as alcohol), social enrichment and cognitive stimulation, which together may modestly slow clinical disease progression and improve quality of life.1 She had used preimplantation genetic diagnosis during her pregnancies but preferred otherwise not to focus on her condition. She understood that there were no proven therapies for this incurable condition and did not want to attend HD clinics. She was asymptomatic.

At her request, I searched…