Natural History of Infantile Neuroaxonal Dystrophy

Retrotope

Status: Completed

Conditions: INAD; Infantile Neuroaxonal Dystrophy

Study type: Observational

Funder types: Industry

Identifiers

NCT03999814

RT-INAD-NH001

Details and patient eligibility

About

This is a retrospective and cross-sectional review of the natural history of INAD.

Full description

After obtaining informed consent, the study participants' relevant medical records will be collected and reviewed. If needed, a telephone or video conference will be scheduled with the patient's family to confirm and clarify information in the medical record. Deceased patients may be eligible for inclusion the retrospective registry if medical records are sufficient and indicate eligibility. Data will be pooled and presented in aggregate, without identification of individual subjects.

Enrollment: 13 patients

Sex: All

Ages: 18 months to 10 years old

Volunteers: No 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 for PLA2G6 deficiency (variant alleles may be mixed heterozygotes)
• Signed informed consent form (ICF) prior to entry into the registry

Exclusion criteria

• Diagnosis of atypical NAD (ANAD)
• Unwilling or unable to allow medical record review