A Multicenter, Observational, Prospective, Natural History Study of Homocystinuria Due to Cystathionine Beta-synthase Deficiency in Pediatric and Adult Patients (ACAPPELLA)

Changes in Met cycle metabolites levels - tHcy

时间窗: 6.5 years

Changes in total homocysteine levels in micromoles. The met cycle metabolites levels and change from baseline will be summarized using descriptive statistics at each visit.

Changes in Met cycle metabolites levels - Cth

时间窗: 6.5 years

Changes in total cystathionine levels in micromoles. The met cycle metabolites levels and change from baseline will be summarized using descriptive statistics at each visit.

Patient Reported Outcome (PRO): Quality of Life by 36-Item Short Form Survey [SF-36]

时间窗: 6.5 years

The original responses to all questions are scored on a scale from 0 to 100, with 100 representing the highest level possible. The rescaled scores that address each specific area of functional health status are averaged together, for a final score within each of the 8 domains measured. The average is based on the number of items with non-missing scores. The average score for each domain and the change from baseline will be summarized using descriptive statistics at each visit.

Eye assessments to evaluate ocular health: Visual acuity examination will be performed to determine the clarity or sharpness of vision

时间窗: 6.5 years

Visual acuity examination will be performed to determine the clarity or sharpness of vision. The results will be summarized using descriptive statistics at each visit.

EuroQol EQ-5D™ questionnaire to measure health and quality-of-life

时间窗: 6.5 years

EQ-5D™ is a standardized questionnaire as judged by the patients. This questionnaire consists of two parts: 1. Five domains: mobility, self-care, usual activities, pain/discomfort and anxiety/depression. Each dimension consists of 5 levels of grading: no problem, slight problem, moderate problem, severe problem and extreme problem. For youths, 3 levels of grading: no problem, some problems, and a lot of problems. 2. Visual analogue scale (VAS) is a vertical scale from 0 (worst) to 100 (best). Descriptive statistics will be provided for the five domains. Descriptive statistics will be provided for VAS and change from baseline at each visit for pooled EQ-5D-Y version and EQ-5D-5L version.

Dual-Energy X-Ray Absorptiometry to measure bone mineral density

时间窗: 6.5 years

The z-score, t-score, and bone mineral density and change from baseline will be summarized by the location of X-ray (spine, hip, and total body) at each visit.

Changes in Met cycle metabolites levels - Met

时间窗: 6.5 years

Changes in total methionine levels in micromoles. The met cycle metabolites levels and change from baseline will be summarized using descriptive statistics at each visit.

Eye assessments to evaluate ocular health: Slit lamp eye examination will be performed to look for any diseases or abnormalities in the anterior portion of the eye

时间窗: 6.5 years

Slit lamp eye examination will be performed to look for any diseases or abnormalities in the anterior portion of the eye. The results will be summarized using descriptive statistics at each visit.

Changes in Met cycle metabolites levels - total Cys

时间窗: 6.5 years

Changes in total cysteine levels in micromoles. The met cycle metabolites levels and change from baseline will be summarized using descriptive statistics at each visit.

National Institutes of Health (NIH) Toolbox Cognition Battery

时间窗: 6.5 years

The NIH Toolbox is a multi-dimensional assessment tool that is used to measure the neurological and behavioral function of a patient over time. Assessments are recorded as 7 individual test scores, 1 total summary score and 2 composite scores. The raw measure scores and age-corrected standard scores and the change from baseline of the scores will be summarized using descriptive statistics at each visit.

Patient Reported Outcome (PRO): Quality of Life in Neurological Disorders [Neuro-QoL]

时间窗: 6.5 years

Short forms for four domains (anxiety, depression, social activities, cognition function) by adults version for age 18+ and pediatric version for age 12-17 are used. A summary score will be calculated for each domain by adding up the scores for individual questions. The aggregated score for each domain as a continuous variable, and the change from baseline in the aggregated domain score will be summarized using descriptive statistics at each visit.