Natural History of Infantile Neuroaxonal Dystrophy

A Retrospective Review of the Natural History of Infantile Neuroaxonal Dystrophy

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

Study Overview

• Status: Completed
• Conditions: Infantile Neuroaxonal Dystrophy; 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 Type: Observational
• Enrollment (Actual): 13

Contacts and Locations

Study Locations

• United States
  • California
    • Los Altos, California, United States, 94022
      • Sarah Endemann

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 1 year to 10 years (Child)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Non-Probability Sample

Study Population

Living or deceased males or females with a diagnosis of classic INAD between the ages of 18 months and 10 years of age.

Description

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 Plan

How is the study designed?

Design Details

• Observational Models: Other
• Time Perspectives: Retrospective

What is the study measuring?

Primary Outcome Measures

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

Secondary Outcome Measures

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

Collaborators and Investigators

• Sponsor: Retrotope, Inc.
• Investigators: Principal Investigator: Peter Milner, MD, Retrotope, Inc.

Study record dates

Study Major Dates

• Study Start (Actual): July 30, 2018
• Primary Completion (Actual): February 27, 2020
• Study Completion (Actual): February 27, 2020

Study Registration Dates

• First Submitted: April 25, 2019
• First Submitted That Met QC Criteria: June 24, 2019
• First Posted (Actual): June 27, 2019

Study Record Updates

• Last Update Posted (Actual): June 29, 2020
• Last Update Submitted That Met QC Criteria: June 25, 2020
• Last Verified: June 1, 2019

More Information

Terms related to this study

• Keywords: PLA2G6; INAD; Infantile Neuroaxonal Dystrophy
• Additional Relevant MeSH Terms: Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Neuroaxonal Dystrophies
• Other Study ID Numbers: RT-INAD-NH001

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: No

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No