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Recruiting NCT02998710

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

— Observational Homocystinuria Due to CBS Deficiency

For patients and families

In plain language

An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.

What is being studied
This is an observational study: the protocol does not assign a study treatment.
Who it may be relevant to
Registry conditions: Homocystinuria Due to CBS Deficiency. Basic parameters: 1 year — 65 years · All.
What needs checking
Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
Where it takes place
United States, Ireland, Qatar, United Kingdom
Next step
Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →

Unsure about the terms? Read our patient guide →

Official title

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

Overview

The purpose of the study is to characterize the clinical course of homocystinuria in pediatric and adult patients aged 1 to 65 years under current clinical management practices

Primary outcome measures

  • Changes in Met cycle metabolites levels - tHcy [Time frame: 6.5 years]
  • Changes in Met cycle metabolites levels - total Cys [Time frame: 6.5 years]
  • Changes in Met cycle metabolites levels - Met [Time frame: 6.5 years]
  • Changes in Met cycle metabolites levels - Cth [Time frame: 6.5 years]
  • Patient Reported Outcome (PRO): Quality of Life in Neurological Disorders [Neuro-QoL] [Time frame: 6.5 years]
  • Patient Reported Outcome (PRO): Quality of Life by 36-Item Short Form Survey [SF-36] [Time frame: 6.5 years]
  • National Institutes of Health (NIH) Toolbox Cognition Battery [Time frame: 6.5 years]
  • EuroQol EQ-5D™ questionnaire to measure health and quality-of-life [Time frame: 6.5 years]
  • Dual-Energy X-Ray Absorptiometry to measure bone mineral density [Time frame: 6.5 years]
  • Eye assessments to evaluate ocular health: Visual acuity examination will be performed to determine the clarity or sharpness of vision [Time frame: 6.5 years]
Secondary outcome measures (7)
  • Growth and development: World Health Organization (WHO) growth charts will be used to document height in centimeters (cm) for age 1 to 19 years old. Routine methods will be used to document height for all other age groups. [Time frame: 6.5 years]
  • Growth and development: World Health Organization (WHO) growth charts will be used to document Body Mass Index (BMI) in kilograms per meter square for age 1 to 19 years old. Routine methods will be used to document BMI for all other age groups. [Time frame: 6.5 years]
  • Growth and development: World Health Organization (WHO) growth charts will be used to document weight in kilograms (kg) for age 1 to 19 years old. Routine methods will be used to document weight for all other age groups. [Time frame: 6.5 years]
  • Changes in alanine aminotransferase (ALT) [Time frame: 6.5 years]
  • Changes in aspartate aminotransferase (AST) [Time frame: 6.5 years]
  • Changes in alkaline phosphatase (ALP) [Time frame: 6.5 years]
  • Optional homocystynuria genetic testing [Time frame: The optional test will be done once at screening visit]

Eligibility criteria

Inclusion criteria

  • Patients who are clinically diagnosed with homocystinuria
  • Male/female patients aged 1 to 65 years
  • Patients who consented and/or assented
  • Patients who are willing and able to comply with all study-related procedures.

Exclusion criteria

  • Medically significant postnatal complications or congenital anomalies that are not associated with homocystinuria
  • Received any experimental therapy for homocystinuria during the 6 months prior to enrollment or expected to receive any such therapy during duration of the study

Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.

Healthy volunteers: No

Study design

Observational model
Case-only

Study locations

United States · 7 centers
  • Travere Investigational Site - Virtual Site — Culver City
  • Travere Investigational Site (Enrolling 1 to <5 Year-olds Only) — Aurora
  • Travere Investigational Site (Enrolling 1 to <5 Year-olds Only) — Washington D.C.
  • Travere Investigational Site — Atlanta
  • Travere Investigational Site — Indianapolis
  • Travere Investigational Site — Boston
  • Travere Investigational Site (Enrolling 1 to <5 Year-olds Only) — Philadelphia
Qatar · 2 centers
  • Travere Investigational Site — Doha
  • Travere Investigational Site — Doha
Ireland · 1 center
  • Travere Investigational Site — Dublin
United Kingdom · 1 center
  • Travere Investigational Site — Salford

Identifiers

NCT: NCT02998710 · CBS-HCY-NHS-01

Primary sources (government registries)

View this study on ClinicalTrials.gov ↗