Objective: To describe baseline characteristics and treatment patterns in patients with chorea associated with Huntington disease (HD) by severity of chorea.

Background: Though multiple treatment options exist for chorea associated with HD, there are little real-world data on treatment patterns, especially across disease trajectory and variation by severity of chorea.

Method: Participants were adults from Enroll-HD, a global observational registry for patients with HD and their families (data cut 2013 – 31 October, 2020). Data on age, sex, and Total Maximal Chorea (TMC) score were collected during baseline visit. Data on treatment for chorea, vesicular monoamine transporter 2 inhibitors (VMAT2i) and antipsychotic agents (APs; typical, atypical, and other [lithium]), were also collected at baseline visit. Participants were evenly grouped by chorea severity as determined by TMC score recorded at baseline (0–7, 8–14, 15–21, 22–28) for analysis.

Results: There were 10,903 participants (TMC score of 0–‍7, n=5055; 8–‍14, n=4374; 15–‍21, n=1310; 22–‍28, n=164). Overall, 51% were female (51.2%, 51.5%, 51.4%, and 53.1%, respectively) and the mean age at baseline was 53.0 years (50.8, 54.5, 55.9, and 54.4, respectively). VMAT2i use at baseline was 14.9% for all patients and increased with chorea severity (10.8%, 16.4%, 23.9%, 29.3%, respectively). Proportion of patients using APs at baseline was 34.5% overall and increased with chorea severity (29.9%, 35.1%, 47.8%, 57.3%, respectively). 5.8% of all patients had combined use of VMAT2i’s with APs, and combined use also increased with chorea severity (3.9%, 5.8%, 11.5%, 15.9%, respectively).

Conclusion: Use of medications to treat chorea was low across the spectrum of chorea severities but increased incrementally in patients with more severe chorea. Use of a combination of VMAT2i’s and APs at baseline was less common but increased as chorea severity increased. Altogether, these data suggest that chorea associated with HD may be undertreated globally. More data are needed to understand the utility of VMAT2i’s and APs, alone and in combination, for treating chorea associated with HD and for treating comorbidities.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/baseline-characteristics-and-treatment-patterns-of-a-global-huntington-disease-population-stratified-by-chorea-severity/