Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
This study is a longitudinal and prospective study of the natural history of infantile neuroaxonal dystrophy (INAD).
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.
Not provided
Not provided
Not provided
Not provided
Not provided
| Measure | Description | Time Frame |
|---|---|---|
| INAD Mortality | Overall analysis | 1-2 years of follow-up is planned |
| Measure | Description | Time Frame |
|---|---|---|
| INAD Morbidity | Videotaped, structured neurological assessment | 1-2 years of follow-up is planned |
| INAD Morbidity | CHOP-INTEND Neuro-development Score |
Not provided
Inclusion Criteria:
Exclusion Criteria:
Not provided
Not provided
Living males or females with a diagnosis of classic INAD between 18 months to 10 years of age.
Not provided
| Name | Affiliation | Role |
|---|---|---|
| Peter Milner, MD | Biojiva LLC | Study Director |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Peking University First Hospital | Beijing | China | ||||
| National Research Centre |
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
| ID | Term |
|---|---|
| D019150 | Neuroaxonal Dystrophies |
| ID | Term |
|---|---|
| D001927 | Brain Diseases |
| D002493 | Central Nervous System Diseases |
| D009422 | Nervous System Diseases |
Not provided
Not provided
Not provided
Not provided
Not provided
| 1-2 years of follow-up is planned |
| INAD Morbidity | Hammersmith infant neurological examination | 1-2 years of follow-up is planned |
| INAD morbidity | Modified Ashworth spasticity scale | 1-2 years of follow-up is planned |
| Cairo |
| Egypt |
| EN1 Neuro Services Pvt. Ltd | Mumbai | India |
| King Faisal Specialist Hospital and Research Center | Riyadh | Saudi Arabia |
| National Institute of Neurology of Tunis | Tunis | Tunisia |