Health TrialsbyHealthPanel

Natural History Study of Patients with HPDL Mutations

ConditionsMitochondrial EncephalomyopathiesHereditary Spastic ParaplegiaSpastic ParaplegiaWhite Matter DiseaseNeonatal EncephalopathyMutationGenetic Disease
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
AgeNot listed
SponsorUniversity of California, San Diego

About this trial

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

Eligibility criteria

This trial does not accept healthy volunteers

Qualifiers

Any individuals diagnosed with HPDL variants

HPDL-related hereditary spastic paraplegia (HSP)

HPDL-related neonatal mitochondrial encephalopathy

Spastic paraplegia -83 (SPG83)

Disqualifiers

Any known genetic abnormality (other than HPDL mutation)

Any condition that, in the opinion of the Site Investigator, could put the participant at undue risk and/or would ultimately prevent the completion of study procedures

Trial population

The gene HPDL has been linked to an infantile neurodegenerative condition. The affected patients have various clinical manifestations from spastic paraplegia to NEDSWMA. Severely affected patients exhibit developmental delay, seizures, and spasticity, and can lead to death.

Trial design

Design model

Cohort

Time perspective

Retrospective

Treatments tested in this trial

  • Patient Registry

    Other intervention

    Participants who have been diagnosed with HPDL mutations will be enrolled to patient registry.

  • Dry blood spots sampling

    Other intervention

    Dry blood splots require 500nl of blood.

Treatment groups

50 Participants
are divided into 1 treatment group
Group A: HPDL deficiency2 interventions

Trial outcomes

Primary outcomes

1

Clinician questionnaire

Clinician-reported clinical and genetic confirmation of HPDL mutations

Time frame
12 months

Secondary outcomes

Other outcomes

Sponsors and contacts

Click on the lead sponsor to view all of their trials.

University of California, San Diego

Lead sponsor

New York University

Collaborator

Universität Tübingen

Collaborator

Heinrich-Heine University, Duesseldorf

Collaborator

Source ClinicalTrials.gov
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