Natural History of Infantile Neuroaxonal Dystrophy

A Retrospective Review of the Natural History of Infantile Neuroaxonal Dystrophy

Status

Completed

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT03999814

Enrollment

Registered

2019-06-27

Start date

2018-07-30

Completion date

2020-02-27

Last updated

2020-06-29

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

INAD, Infantile Neuroaxonal Dystrophy

Keywords

Infantile Neuroaxonal Dystrophy, INAD, PLA2G6

Brief summary

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

Detailed description

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.

Interventions

None listed

Study design

Observational model

OTHER

Time perspective

RETROSPECTIVE

Eligibility

Sex/Gender

ALL

Age

18 Months to 10 Years

Healthy volunteers

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

Design outcomes

Primary

Measure	Time frame	Description
To describe the natural history of infantile neuroaxonal dystrophy (INAD).	Birth to time of enrollment.	Overall analysis

Secondary

Measure	Time frame	Description
To look for trends in disease progression of INAD that may be helpful in planning future interventional trials in INAD.	Birth to time of enrollment.	Overall analysis
Evaluating and potentially validating a Assessment of Severity by Parent or Caregiver questionnaire.	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.

Countries

United States

Outcome results