NCT04977388

NORTHERA (DROXIDOPA) for Dysautonomia in Adult Survivors of Menkes Disease and Occipital Horn Syndrome

Phase I/II Study of NORTHERA (DROXIDOPA) for Dysautonomia in Adult Survivors of Menkes Disease and Adults With Occipital Horn Syndrome: Double-blind Placebo-controlled Randomized Crossover Clinical Trial

• Status: Completed
• Phase: Phase 1 / Phase 2
• Study type: Interventional
• Enrollment: 3 (actual)
• Sponsor: Stephen G. Kaler, MD · Academic / Other
• Sex: All
• Age: 18 Years – 50 Years
• Healthy volunteers: Not accepted

Summary

The purpose of this study is to evaluate whether Northera (Droxidopa) is safe and effective in young adults with Menkes disease who survived the most severe complications of their illness or adults with occipital horn syndrome (OHS), who have trouble with intermittent low blood pressure and other symptoms of dysautonomia. The outcomes and information from this study may help adult survivors of Menkes disease and individuals with OHS lead more normal day-to-day lives.

Detailed description

This pilot clinical trial will evaluate the safety, tolerability, dosing, and preliminary efficacy of Northera (Droxidopa) treatment in young adults who survived the major neurodegenerative and neurocognitive effects of Menkes disease through early Copper Histidinate treatment. We hypothesize that Northera (Droxidopa) in Menkes disease survivors with symptoms of dysautonomia (e.g., syncope, dizziness, orthostatic hypotension, abnormal sinoatrial conduction, nocturnal bradycardia, and bowel or bladder dysfunction) from persistent deficiency of the copper-dependent enzyme, dopamine-β-hydroxylase, will be safe, and correct or improve blood neurochemical levels, raise systolic blood pressure, and produce symptomatic improvement and better overall quality of life. We will test this hypothesis in six to ten Menkes disease survivors or OHS patients in a double-blind placebo-controlled randomized crossover clinical trial.

Conditions

• Menkes Disease
• Occipital Horn Syndrome

Interventions

Type	Name	Description
DRUG	Droxidopa	Subjects will self-administer capsules of Droxidopa by mouth twice daily for six weeks.
OTHER	Placebo	Subjects will self-administer capsules of placebo by mouth twice daily for six weeks.

Timeline

• Start date: 2021-07-12
• Primary completion: 2023-10-30
• Completion: 2024-06-29
• First posted: 2021-07-26
• Last updated: 2026-04-13
• Results posted: 2026-04-13

Locations

1 site across 1 country: United States

Regulatory

• FDA-regulated drug study