Could a blood pressure drug improve daily life for rare disease survivors?
NCT ID NCT04977388
First seen Jun 27, 2026 · Last updated Jun 27, 2026
Summary
This study tested whether the drug Northera (droxidopa) is safe and helpful for adults with Menkes disease or Occipital Horn Syndrome who have trouble with low blood pressure and other symptoms of dysautonomia. Three participants took either the drug or a placebo in a crossover design to compare effects. The goal was to see if the drug could improve blood pressure and make daily activities easier.
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Study facts
What this study's own registry entry says, in plain language.
- Phase
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Phase 1/2
Runs two stages together: safety and dose first, then whether the treatment works.
- Participants
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3 people
The number who actually took part.
- Started
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Jul 2021
- Finished
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Jun 2024
- Lead sponsor
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Other sponsor
The registry's catch-all category, for sponsors it does not file as a company, a government agency, or a research network.
Who can take part
This study's own entry requirements. Only the study team can say for certain whether you qualify.
- Ages
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18 to 50 years
- Sex
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Anyone
- Healthy volunteers
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Not accepted
This study is not open to healthy volunteers. The entry requirements below say who it is open to.
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Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.
Inclusion Criteria: 1. Adult persons with Menkes disease who survived beyond the expected natural history, attained independent ambulation, attend (or attended) school, and reached adulthood after early CuHis treatment for three years or adults with Occipital Horn Syndrome, who manifest clinical signs and symptoms of dysautonomia, e.g., orthostatic hypotension: specifically, a decrease in systolic or diastolic blood pressure of at least 20 or 10 mm Hg, respectively, within three minutes after standing, and/or chronic diarrhea: production of loose stools with or without increased stool frequency for more than four weeks immediately preceding enrollment. 2. History of at least thrice weekly occurrence of dizziness/feeling lightheaded while standing upright and/or thrice weekly episodes of diarrhea or an urgent need to defecate after food ingestion for more than four weeks immediately preceding enrollment. 3. Documented mutation in ATP7A. 4. Must sign and date an Informed Consent Form (ICF). 5. Age ≥ 18 years of age. 6. Ability to adhere to the prescribed oral Northera (Droxidopa) regimen. 7. Willingness to comply with all study visits and procedures. Exclusion Criteria: 1. Pre-existing liver (e.g., hepatitis, biliary atresia, cirrhosis) or kidney disease (i.e., calculated glomerular filtration rate \<30 ml/min). 2. History of hypertension, anti-hypertensive therapy, heart failure (or decreased ejection fraction), cardiac arrhythmia, or bleeding diatheses. 3. Any disease or condition that, in the opinion of the Investigator, has a high probability of precluding the subject from completing the study or where the subject cannot or will not appropriately comply with study requirements. 4. Any alpha-1 adrenoreceptor agonist, beta-blocker, DOPA decarboxylase inhibitor, midodrine, ephedrine, or any triptan medication as a concomitant medication.
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Conditions
The condition(s) this trial relates to.
As listed by the trial registrant
The condition terms exactly as the trial's registrant entered them.
Contacts and locations
Locations
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Vagelos College of Physicians and Surgeons, Columbia University
New York, New York, 10032, United States
More trials for these conditions
Other studies related to the condition(s) this trial covers.