Clinical trial NCT04027816: A Natural History Study of Infantile Neuroaxonal Dystrophy
Official title: Protocol RT001-009: A Natural History Study of Infantile Neuroaxonal Dystrophy
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Neuroaxonal Dystrophy, Infantile
Keywords: PLA2G6-related NBIA
INAD
PLA2G6
Lead sponsor: Biojiva LLC
Sponsor class: INDUSTRY
First posted: 2019-07-22
Enrollment: 43
Sex: ALL
Minimum age (years): 18
Maximum age (years): 10
Standard ages: CHILD
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
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.

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.

Eligibility criteria: 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)

Primary outcomes:
measure: INAD Mortality
timeFrame: 1-2 years of follow-up is planned
Secondary outcomes:
measure: INAD Morbidity
timeFrame: 1-2 years of follow-up is planned
measure: INAD Morbidity
timeFrame: 1-2 years of follow-up is planned
measure: INAD Morbidity
timeFrame: 1-2 years of follow-up is planned
measure: INAD morbidity
timeFrame: 1-2 years of follow-up is planned
Other outcomes:
Locations:
city: Beijing
country: China
facility: Peking University First Hospital
city: Cairo
country: Egypt
facility: National Research Centre
city: Mumbai
country: India
facility: EN1 Neuro Services Pvt. Ltd
city: Riyadh
country: Saudi Arabia
facility: King Faisal Specialist Hospital and Research Center
city: Tunis
country: Tunisia
facility: National Institute of Neurology of Tunis
Study officials:
affiliation: Biojiva LLC
name: Peter Milner, MD
role: STUDY_DIRECTOR
References: