The purpose of this study is to systematically evaluate the results of medical investigations to identify symptom and biological patterns and common etiologies…

Neurodevelopmental DisordersAutism Spectrum DisorderPediatric Autoimmune Neuropsychiatric Disorder Associated With Streptococcal Infection+5 more

~Estimated

~$10 – $1,125

Richard FryeNCT06213090

A Patient Registry and Natural History Study of Patients with Biallelic HPDL Mutations

This study uses medical records that allow retrospective data extraction of clinical manifestation to assess the natural history of HPDL mutations

Mitochondrial EncephalomyopathiesHereditary Spastic ParaplegiaSpastic Paraplegia+4 more

~Estimated

~$10 – $750

University of California, San DiegoNCT05848271