Natural History of Infantile Neuroaxonal Dystrophy

Completed

• Conditions: INAD; Infantile Neuroaxonal Dystrophy

• Registration Number: NCT03999814
• Lead Sponsor: Retrotope, Inc.

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.

Study Timeline

• Study Start: 2018-07-30
• Study First Submitted: 2019-04-25
• Status Verified: 2019-06
• Study First Submitted QC: 2019-06-24
• Study First Posted: 2019-06-27
• Primary Completion: 2020-02-27
• Study Completion: 2020-02-27
• Last Update Submitted: 2020-06-25
• Last Update Posted: 2020-06-29

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 13

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

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

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

Secondary Outcome Measures

Name	Time	Method
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.

Trial Locations

Locations (1)

Sarah Endemann; 🇺🇸 Los Altos, California, United States