A Natural History Study of Infantile Neuroaxonal Dystrophy

Protocol RT001-009: A Natural History Study of Infantile Neuroaxonal Dystrophy

Status

Completed

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT04027816

Enrollment

Registered

2019-07-22

Start date

2019-06-17

Completion date

2022-02-28

Last updated

2022-04-08

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Neuroaxonal Dystrophy, Infantile

Keywords

PLA2G6-related NBIA, INAD, PLA2G6

Brief summary

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

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.

Interventions

None listed

Study design

Observational model

COHORT

Time perspective

PROSPECTIVE

Eligibility

Sex/Gender

ALL

Age

18 Months to 10 Years

Healthy volunteers

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)

Design outcomes

Primary

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

Secondary

Measure	Time frame	Description
INAD Morbidity	1-2 years of follow-up is planned	Videotaped, structured neurological assessment
INAD morbidity	1-2 years of follow-up is planned	Modified Ashworth spasticity scale

Countries

China, Egypt, India, Saudi Arabia, Tunisia

Outcome results