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Help Us Find a Novel Drug for HPDL mutations

HPDL mutations was recently identified disease which leads to hereditary spastic paraplegia to severe infantile encephalopathy. The function of the enzyme has been now identified, and we are working on developing a novel treatment to cure this disease. 

The Gleeson Lab at UC San Diego is working to establish an international registry of patients with HPDL and develop a novel drug to cure HPDL defect.

Our study is actively recruiting participants who fulfill the criteria below:

Any individuals diagnosed with HPDL mutations with clinical diagnosis including:

  • HPDL-related spastic paraplegia (HSP)   
  • HPDL-related mitochondrial encephalopathy
  • Spastic paraplegia-83 (SPG 83)
  • Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities (NEDSWMA)


         

1. What is your first name?

2. What is your last name?

3. At what email address would you like to be contacted?

4. At what phone number would you like to be contacted?

5. What is your mailing address?

6. Who in your family has HPDL mutation? 
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7. What is the birthdate of the person with HPDL mutation?

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8. What is the gender of the person with HPDL mutation?

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9. At what age did the person’s symptom begin?

10. What was the first symptom to visit hospital?

11.What is the clinical diagnosis of the affected individual?

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12. Are the affected individual and unaffected siblings willing and able to provide dried blood spots by mail (This requires 0.5 cc of blood samples)?

Clear selection

13. Besides this person, is there a family member with HPDL mutation?

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What is your physician's name and affiliation? *
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