At risk for Huntington disease: The PHAROS (Prospective Huntington At Risk Observational Study) cohort enrolled
Insights
Researchers identified early clinical precursors for Huntington disease (HD) in at-risk individuals. This data is vital for developing trials to delay the onset of this neurodegenerative disorder.
Area of Science:
- Neuroscience
- Genetics
- Clinical Medicine
Background:
- Huntington disease (HD) is a progressive neurodegenerative disorder.
- Identifying early clinical precursors is crucial for therapeutic interventions.
- Gene carriers need reliable markers to predict disease onset.
Purpose of the Study:
- To identify reliable, gene-specific early clinical precursors for Huntington disease (HD).
- To establish objective outcomes for clinical trials targeting HD onset postponement.
Main Methods:
- Longitudinal clinical data and DNA samples were collected from 1001 adults at 50% risk for HD between 1999 and 2004.
- The Prospective Huntington At Risk Observational Study (PHAROS) cohort was established.
- Participants provided informed consent for data collection, with guaranteed anonymity.
Main Results:
- The PHAROS cohort (n=1001) showed a 2:1 female to male ratio, high education, and employment.
- Demographic and clinical characteristics were similar between genders.
- At baseline, 92.3% had no/nonspecific motor abnormalities, 6.7% had possible/probable motor signs, and 1.0% had unequivocal HD.
Conclusions:
- The PHAROS cohort's baseline characteristics are suitable for generating prospective data.
- Objective, gene-specific clinical precursors can be identified.
- This data will aid in developing trials to postpone Huntington disease onset.
Objective:
To identify the emerging clinical precursors that indicate the early onset of Huntington disease (HD) in a reliable and gene-specific manner. This information is critical for the development of therapeutic trials aimed at postponing clinical onset in HD gene carriers.
Methods:
Between July 1999 and January 2004, 1001 adults at 50-50 risk for HD agreed to provide longitudinal clinical data and a blood DNA sample under consent provisions that require their individual clinical and genetic information to never be revealed.
Results:
The Prospective Huntington At Risk Observational Study (PHAROS) cohort is characterized by a 2:1 predominance of women to men, high educational attainment, and gainful employment. Despite the gender disparity, the demographic, hereditary, and clinical characteristics of the female and male participants were similar. Investigators, who are unaware of individual gene status, characterized the baseline cohort to be highly functional with minimal motor or cognitive impairment; 92.3% of participants were judged to have no or nonspecific motor abnormalities; 6.7%, to have possible or probable motor signs; and only 1.0%, to have unequivocal HD.
Conclusion:
The baseline characteristics of the PHAROS cohort make it well suited to generate objective and prospective data about gene-specific clinical precursors that can be used as outcomes in controlled trials aimed at postponing the onset of HD.
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