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RESEARCH QUESTIONS

The gene HPDL encodes for the 4-hydroxyphenylpyruvate dioxygenase-like protein, which is localized within the mitochondria and has been linked to an infantile neurodegenerative condition (https://doi.org/10.1038/s41436-020-01010-y). The disease severity can vary from hereditary paraplegia (HSP), spastic paraplegia-83 (SPG83) to Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities (NEDSWMA). Severely affected patients exhibit developmental delay, epileptic seizures, spasticity, and neuroimaging findings such as cortical atrophy, white matter hyperintensity, and corpus callosum thinning, and can be fatal. There are currently no treatments.

Although the function of the HPDL enzyme was previously unknown, Dr. Michael Pacold’s group recently discovered its substrate and product, and a treatment trial yielded promising results in mice. We are currently working to develop a potential therapy for patients and are enrolling participants in our registry. Our ultimate goal is to create a novel drug that can effectively cure affected patients with HPDL defect in the early stages of the disease. To do this, we need your help to identify HPDL patients so we can better understand the disease and develop valid outcome measures.

ENROLLMENT

Any individuals diagnosed with HPDL variants can be enrolled in our study. There are no fees for enrollment. Clinical diagnosis can include:
  • HPDL-related hereditary spastic paraplegia (HSP)
  • HPDL-related neonatal mitochondrial encephalopathy
  • Spastic paraplegia -83 (SPG83)
  • Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities (NEDSWMA)
If you are interested in collaborating or enrolling, please feel free to contact our clinical study office.

UCSD/Rady IRB study 140028

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See our retrospective, natural history study on clinicaltrials.gov

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