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OpenTrials
Completed

NCT Number: NCT03999814

Natural History of Infantile Neuroaxonal Dystrophy

This is a retrospective and cross-sectional review of the natural history of INAD.

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Key information

Conditions

Infantile Neuroaxonal Dystrophy Brain Diseases Central Nervous System Diseases INAD Nervous System Diseases Neuroaxonal Dystrophies

Age range

18 month–10 year

Sex eligibility

All sexes

Study type

Observational

Primary location

Sarah Endemann

Los Altos, California, 94022, United States

About this study

After obtaining informed consent, the study participants' relevant medical records will be collected and reviewed. If needed, a telephone or video conference will be scheduled with the patient's family to confirm and clarify information in the medical record. Deceased patients may be eligible for inclusion the retrospective registry if medical records are sufficient and indicate eligibility. Data will be pooled and presented in aggregate, without identification of individual subjects.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

  • Male or female 18 months to 10 years of age
  • Medical history consistent with the symptoms of classic INAD (onset of symptoms between the ages of 6 months and 3 years)
  • Homozygous for PLA2G6 deficiency (variant alleles may be mixed heterozygotes)
  • Signed informed consent form (ICF) prior to entry into the registry

Exclusion criteria

  • Diagnosis of atypical NAD (ANAD)
  • Unwilling or unable to allow medical record review

Treatment and study plan

Primary outcomes

  1. To describe the natural history of infantile neuroaxonal dystrophy (INAD).

    Time frame: Birth to time of enrollment.

    Overall analysis

Secondary outcomes

  1. To look for trends in disease progression of INAD that may be helpful in planning future interventional trials in INAD.

    Time frame: Birth to time of enrollment.

    Overall analysis

  2. Evaluating and potentially validating a Assessment of Severity by Parent or Caregiver questionnaire.

    Time frame: At time of enrollment.

    In the questionnaire parents/caregivers are asked to score the child on a scale of 1 to 4 based on how often the child can perform 33 various activities of daily living. The individual scores are then added up to form a composite score of disease severity, with lower scores indicating higher severity and higher score indicating less disease progression.

Sponsors and collaborators

Lead sponsor

Biojiva LLC

Industry

Registry information

Official study title

A Retrospective Review of the Natural History of Infantile Neuroaxonal Dystrophy

Important dates

Study start
2018
Primary completion
2020
Study completion
2020
First posted
Jun 27, 2019
Registry last updated
Jun 29, 2020

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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