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A Natural History Study of Infantile Neuroaxonal Dystrophy

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.
ClinicalTrials.gov Identifier: NCT04027816
Recruitment Status : Completed
First Posted : July 22, 2019
Last Update Posted : April 8, 2022
Information provided by (Responsible Party):
Retrotope, Inc.

Brief Summary:
This study is a longitudinal and prospective study of the natural history of infantile neuroaxonal dystrophy (INAD).

Condition or disease
Neuroaxonal Dystrophy, Infantile

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.

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Study Type : Observational
Actual Enrollment : 43 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: Protocol RT001-009: A Natural History Study of Infantile Neuroaxonal Dystrophy
Actual Study Start Date : June 17, 2019
Actual Primary Completion Date : February 14, 2022
Actual Study Completion Date : February 28, 2022

Primary Outcome Measures :
  1. INAD Mortality [ Time Frame: 1-2 years of follow-up is planned ]
    Overall analysis

Secondary Outcome Measures :
  1. INAD Morbidity [ Time Frame: 1-2 years of follow-up is planned ]
    Videotaped, structured neurological assessment

  2. INAD Morbidity [ Time Frame: 1-2 years of follow-up is planned ]
    CHOP-INTEND Neuro-development Score

  3. INAD Morbidity [ Time Frame: 1-2 years of follow-up is planned ]
    Hammersmith infant neurological examination

  4. INAD morbidity [ Time Frame: 1-2 years of follow-up is planned ]
    Modified Ashworth spasticity scale

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

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Ages Eligible for Study:   18 Months to 10 Years   (Child)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
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.

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)

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT04027816

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Peking University First Hospital
Beijing, China
National Research Centre
Cairo, Egypt
EN1 Neuro Services Pvt. Ltd
Mumbai, India
Saudi Arabia
King Faisal Specialist Hospital and Research Center
Riyadh, Saudi Arabia
National Institute of Neurology of Tunis
Tunis, Tunisia
Sponsors and Collaborators
Retrotope, Inc.
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Study Director: Peter Milner, MD Retrotope, Inc.
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Responsible Party: Retrotope, Inc.
ClinicalTrials.gov Identifier: NCT04027816    
Other Study ID Numbers: RT001-009
First Posted: July 22, 2019    Key Record Dates
Last Update Posted: April 8, 2022
Last Verified: April 2022
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by Retrotope, Inc.:
PLA2G6-related NBIA
Additional relevant MeSH terms:
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Neuroaxonal Dystrophies
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases