Natural History Study in Huntington Disease Gene Expansion Carriers (HDGECs)
Active, not recruiting
Triplet Therapeutics, Inc.
SHIELD HD is an International study that will follow a group of people over time who have or are at risk of developing Huntington´s Disease. SHIELD HD will collect health information that includes medical history, blood and cerebrospinal fluid samples. Participants will also undergo MRIs, cognitive and motor function tests. The information will be used to evaluate the natural history of HD and its biomarkers that are associated with modulation of the number of CAG (cytosine-adenine-guanine) repeats in the mutant Huntingtin(HTT) gene. The results of this study will inform assessments for a future interventional treatment trial.
Estimated Study Completion Date: December 2022
Ages Eligible for Study:
18 Years and older (Adult, Older Adult)
Sexes Eligible for Study:
Accepts Healthy Volunteers:
- Capacity to comprehend the study objectives and procedures
- Documentation of genetically confirmed disease by direct DNA testing, defined as a CAG repeat length ≥39 in the HTT gene
- Ability to undergo and tolerate MRI scans
- Ability to tolerate blood draws and lumbar punctures
- Any conditions, including severe chorea and dementia, that would prevent either writing or performing pen and paper, tablet, or computer based tasks as determined by the Investigator
- Treatment with an investigational drug within 30 days prior to screening or within 5 half lives of the investigational drug, whichever is longer
- History of gene therapy or cell transplantation or any other experimental brain surgery
This two-year natural history study of HDGECs, sponsored by Triplet Therapeutics, is collecting longitudinal information related to somatic instability and DNA damage response genes, along with established assessments of disease progression. The study has enrolled 70 participants to date, and follow-up assessments are ongoing at sites in North America and Europe. The results will inform assessments ahead of a future treatment trial.
ICM – Institut du Cerveau et de la Moelle épinière
Address: Paris, France, 75013
Active, Not Recruiting
Address: Münster, Germany, 48149.
Active, Not Recruiting
University College London – Institute of Neurology & The National Hospital for Neurology and Neurosurgery
Address: London, United Kingdom