A Randomised Controlled Trial, Of N-Acetyl Cysteine (NAC), for Premanifest Huntingtin Gene Expansion Carriers

• Status: Not yet recruiting
• Trial end date: 2027-05-01
• Target enrollment: 0
• Participant gender: All

Summary

NAC-preHD is a phase II randomized placebo controlled study of oral NAC among premanifest HD gene expansion carriers, with clinical and radiological outcome at three years.

• Phase: Phase 2
• Accepts Healthy Volunteers?: No

Details

• Lead Sponsor: Western Sydney Local Health District
• Collaborators: Deakin University; Monash University; Royal Perth Hospital; The University of Queensland; University of Melbourne; University of Sydney
• Treatments: Acetylcysteine

Criteria

Inclusion Criteria:

• Able to provide informed consent

• Huntingtin gene expansion carrier with >= 39 CAG repeats

• Absence of unequivocal motor signs of HD - that is, UHDRS

• Diagnostic Confidence Level needs to be <4 upon enrolment

• Expected to develop clinical HD within 10 years of trial enrolment using the Langbehn formula

• Availability of an informant for corroborative history

• Negative serum pregnancy test for women of childbearing potential

• If of childbearing potential, is able and agrees to remain abstinent or use adequate contraceptive methods

• Ability to tolerate MRI scans

• Ability to tolerate blood draws

• Able to comply with all study protocol requirements, according to the investigators judgement

• In the opinion of the investigator, medically, psychiatrically and neurologically stable at the time of enrolment

Exclusion Criteria:

• Diagnosis of clinical HD

• Known hypersensitivity to NAC

• Pregnancy, breastfeeding or intention to do so prior to the end of the study

• Exposure to any investigational drugs within 30 days of Baseline Visit

• Use of supplemental NAC

• Abnormalities in laboratory measurements, ECG or vital signs at screening, which precludes safe participation in the study

• Current or history of substance abuse within one year of Baseline visit

• Unstable psychiatric or acute medical illness including cancer, as determined by investigator

• Current use of antipsychotic medications or Tetrabenazine

• History of gene therapy, cell transplantation, or any experimental brain surgery

• History of attempted suicide or suicidal ideation within 12 months prior to screening

• Pre-existing structural brain lesion as assessed by a centrally read MRI scan during the screening period