Natural History Study of Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency (ACAPPELLA)

Key requirements

Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.

• Ages 1 year to 65 years
• All sexes
• No healthy volunteers
• Child, Adult, Older adult

Study population: Clinical site

Trial locations and contacts

11 sites in 4 countries.

About this study

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

Conditions

Homocystinuria Due to CBS Deficiency

Medical subject headings

Homocystinuria

What is being measured

The primary outcome is the main question the study is designed to answer.

1. Changes in Met cycle metabolites levels - tHcy

   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.

   Measured: 6.5 years

2. Changes in Met cycle metabolites levels - total Cys

   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.

   Measured: 6.5 years

3. Changes in Met cycle metabolites levels - Met

   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.

   Measured: 6.5 years

4. Changes in Met cycle metabolites levels - Cth

   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.

   Measured: 6.5 years

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

   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.

   Measured: 6.5 years

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

   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.

   Measured: 6.5 years

7. National Institutes of Health (NIH) Toolbox Cognition Battery

   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.

   Measured: 6.5 years

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

   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.

   Measured: 6.5 years

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

   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.

   Measured: 6.5 years

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

    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.

    Measured: 6.5 years

11. 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

    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.

    Measured: 6.5 years

Timeline

From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.

1. First posted20 Dec 2016 (estimated)
2. Study startJan 2017
3. Primary completion31 Jul 2026
4. Study completion31 Jul 2026

Resources

• Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
• Other trials for Homocystinuria Due to CBS DeficiencyStudies of the same condition, open and under way.
• What the trial phases meanHow a treatment moves from first tests in people to approval.

More details

For doctors and researchers: how the study is designed, who runs it, and its registry IDs.