# Natural History Study of Patients with HPDL Mutations

> **NCT05848271** · — · RECRUITING · sponsor: **University of California, San Diego** · enrollment: 50 (estimated)

## Conditions studied

- Mitochondrial Encephalomyopathies
- Hereditary Spastic Paraplegia
- Spastic Paraplegia
- White Matter Disease
- Neonatal Encephalopathy
- Mutation
- Genetic Disease

## Interventions

- **OTHER:** Patient Registry
- **OTHER:** Dry blood spots sampling

## Key facts

- **NCT ID:** NCT05848271
- **Lead sponsor:** University of California, San Diego
- **Sponsor class:** OTHER
- **Phase:** —
- **Study type:** OBSERVATIONAL
- **Status:** RECRUITING
- **Start date:** 2023-05-18
- **Primary completion:** 2026-12-31
- **Final completion:** 2027-12-31
- **Target enrollment:** 50 (ESTIMATED)
- **Last updated:** 2025-03-30

## Collaborators

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## Primary source

ClinicalTrials.gov registry: https://clinicaltrials.gov/study/NCT05848271

## Citation

> US National Library of Medicine, ClinicalTrials.gov registration NCT05848271, "Natural History Study of Patients with HPDL Mutations". Retrieved via AI Analytics 2026-05-28 from https://api.ai-analytics.org/clinical/NCT05848271. Licensed CC0.

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