Natural History of Infantile Neuroaxonal Dystrophy

Infantile Neuroaxonal Dystrophy Clinical Trial

Official title:

A Retrospective Review of the Natural History of Infantile Neuroaxonal Dystrophy

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT03999814
• Other study ID #: RT-INAD-NH001
• Status: Completed
• Start date: July 30, 2018
• Est. completion date: February 27, 2020

Study information

• Verified date: June 2019
• Source: Retrotope, Inc.
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial Summary

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

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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 13
• Est. completion date: February 27, 2020
• Est. primary completion date: February 27, 2020
• Accepts healthy volunteers: No
• Gender: All
• Age group: 18 Months to 10 Years

Eligibility

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

Related Conditions & MeSH terms

• INAD
• Infantile Neuroaxonal Dystrophy

Locations

Country	Name	City	State
United States	Sarah Endemann	Los Altos	California

Sponsors (1)

Lead Sponsor	Collaborator
Retrotope, Inc.

Country where clinical trial is conducted

United States, 

Outcome

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