Skip to main content
OpenTrials
Completed

NCT Number: NCT04027816

A Natural History Study of Infantile Neuroaxonal Dystrophy

This study is a longitudinal and prospective study of the natural history of infantile neuroaxonal dystrophy (INAD).

Completed

Looking for future studies?

Notify Me

Key information

Conditions

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

Age range

18 month–10 year

Sex eligibility

All sexes

Study type

Observational

Primary location

Peking University First Hospital, Beijing, China

Loading trial locations.

About this study

After obtaining informed consent, the study participants' relevant medical records will be collected and reviewed for this study. Next, a clinic visit will be scheduled with the patient's family and an observing MD/DO/MBBS from a sponsor site to confirm and clarify information in the medical records.

A baseline evaluation of clinical status will also be performed during this visit to serve as visit one in this longitudinal, prospective natural history study. Subsequent visits will take place every 6 months, for up to 24 months. Key components of this prospective study at each visit include a neurodevelopment exam tailored for INAD, application of the CHOP-INTEND neurodevelopment scale, the Hammersmith infant neurological examination and the modified Ashworth spasticity scale as well as collection of monthly parental severity scoring and monthly home videos of activities of daily living (ADLs).

Data from this study 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 or compound heterozygous PLA2G6 variants
  • Signed informed consent form (ICF) prior to entry into the registry

Exclusion criteria

  • Diagnosis of atypical NAD (ANAD)
  • Additional underlying diagnosis with features that overlap with INAD
  • Unwilling or unable to allow medical record review
  • Unwilling or unable to participate in serial assessments every 6 months (including deceased patients)

Treatment and study plan

Primary outcomes

  1. INAD Mortality

    Time frame: 1-2 years of follow-up is planned

    Overall analysis

Secondary outcomes

  1. INAD Morbidity

    Time frame: 1-2 years of follow-up is planned

    Videotaped, structured neurological assessment

  2. INAD Morbidity

    Time frame: 1-2 years of follow-up is planned

    CHOP-INTEND Neuro-development Score

  3. INAD Morbidity

    Time frame: 1-2 years of follow-up is planned

    Hammersmith infant neurological examination

  4. INAD morbidity

    Time frame: 1-2 years of follow-up is planned

    Modified Ashworth spasticity scale

Sponsors and collaborators

Lead sponsor

Biojiva LLC

Industry

Registry information

Official study title

Protocol RT001-009: A Natural History Study of Infantile Neuroaxonal Dystrophy

Important dates

Study start
2019
Primary completion
2022
Study completion
2022
First posted
Jul 22, 2019
Registry last updated
Apr 8, 2022

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.

Related clinical trials

Published trials that share one or more normalized conditions with this study.