A Natural History Study of Infantile Neuroaxonal Dystrophy

April 7, 2022 updated by: Retrotope, Inc.

Protocol RT001-009: 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).

Study Overview

Status

Completed

Conditions

Detailed Description

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.

Study Type

Observational

Enrollment (Actual)

43

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • China
      • Beijing, China
        • Peking University First Hospital
  • Egypt
      • Cairo, Egypt
        • National Research Centre
  • India
      • Mumbai, India
        • EN1 Neuro Services Pvt. Ltd
  • Saudi Arabia
      • Riyadh, Saudi Arabia
        • King Faisal Specialist Hospital and Research Center
  • Tunisia
      • Tunis, Tunisia
        • National Institute of Neurology of Tunis

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

1 year to 6 years (Child)

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Sampling Method

Non-Probability Sample

Study Population

Living males or females with a diagnosis of classic INAD between 18 months to 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 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)

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Cohort
  • Time Perspectives: Prospective

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
INAD Mortality
Time Frame: 1-2 years of follow-up is planned
Overall analysis
1-2 years of follow-up is planned

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
INAD Morbidity
Time Frame: 1-2 years of follow-up is planned
Videotaped, structured neurological assessment
1-2 years of follow-up is planned
INAD Morbidity
Time Frame: 1-2 years of follow-up is planned
CHOP-INTEND Neuro-development Score
1-2 years of follow-up is planned
INAD Morbidity
Time Frame: 1-2 years of follow-up is planned
Hammersmith infant neurological examination
1-2 years of follow-up is planned
INAD morbidity
Time Frame: 1-2 years of follow-up is planned
Modified Ashworth spasticity scale
1-2 years of follow-up is planned

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Retrotope, Inc.

Investigators

  • Study Director: Peter Milner, MD, Retrotope, Inc.

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

June 17, 2019

Primary Completion (Actual)

February 14, 2022

Study Completion (Actual)

February 28, 2022

Study Registration Dates

First Submitted

July 16, 2019

First Submitted That Met QC Criteria

July 18, 2019

First Posted (Actual)

July 22, 2019

Study Record Updates

Last Update Posted (Actual)

April 8, 2022

Last Update Submitted That Met QC Criteria

April 7, 2022

Last Verified

April 1, 2022

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • RT001-009

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

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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