A Two-Part, International, Real-World, Observational Registry of Participants Diagnosed with Aromatic L-Amino Acid Decarboxylase Deficiency (AADC-d) With or Without Treatment With Eladocagene Exuparvovec (PTC-AADC-MA-406)

Study type

• Study type:
  Non-interventional study
• Scope of the study:
  Disease epidemiology

  Other
• If ‘other’, further details on the scope of the study:
  This is a 2-part registry that describes natural history of AADC-d in SoC patients (Part A). Part B aims to evaluate the long-term effectiveness and safety of eladocagene exuparvovec in participants treated for AADC-d

Non-interventional study

• Non-interventional study design:
  Other
• Non-interventional study design, other:
  A Two-Part, International, Real-World, Observational Registry

Study drug and medical condition

• Medical condition to be studied:
  Aromatic L-amino acid decarboxylase deficiency

Population studied

• Age groups:
  • Term newborn infants (0 – 27 days)
  • Infants and toddlers (28 days – 23 months)
  • Children (2 to < 12 years)
  • Adolescents (12 to < 18 years)
  • Adults (18 to < 46 years)
  • Adults (46 to < 65 years)
  • Adults (65 to < 75 years)
  • Adults (75 to < 85 years)
  • Adults (85 years and over)
• Estimated number of subjects:
  65

Study design details

• Study design:
  This is an international, multicenter, longitudinal, real-world, ; observational registry of untreated (Part A) and untreated (Part B) participants with AADC-d; with eladocagene exuparvovec (Part B). For Part B, participants will be followed for long-term safety and ; efficacy outcomes for 10 years
• Main study objective:
  Primary Objectives: Part A: • To describe the natural history of AADC-d in participants on SoC for a minimum of 5 years. Part B: • To assess the long-term effectiveness and safety of treatment in motor function over time with eladocagene exuparvovec in participants with AADC-d for a minimum of 10 years.
• Outcomes:
  Primary Objectives Part A: • To describe the natural history of AADC-d in participants on SoC. Part B: • To assess the long-term effectiveness and safety of treatment in motor function over time with eladocagene exuparvovec in participants with AADC-d for a minimum of 10 years. Secondary Objectives Part A Only: • To assess the achievement of motor milestones and changes in motor function over time. • To assess changes in Patient-Reported Outcomes (PRO, quality of life and health status) over time.
• Data analysis plan:
  All participants who meet the eligibility criteria will be enrolled in the registry. This is a study of an ultra-rare disease with no a priori statistical hypothesis. The sample size is not driven by any specific hypothesis to be tested or desired precision estimates but is based on anticipated prevalence of AADC-d. The analysis population includes all subjects enrolled in the registry. Data will be summarized using descriptive statistics. Numerical variables will be summarized with mean, median, standard deviation, minimum, and maximum. Categorical variables will be summarized with frequency counts and percentage. Other descriptive statistics may be reported when appropriate. Data visualization may be used to illustrate trends over time. Interim analyses for publication are expected to be conducted, at a minimum, on a yearly basis and will be included in the annual progress report for Part A and performed as part of the ongoing evaluation of effectiveness and safety for Part B.