Phase 2
N=3
NORTHERA (DROXIDOPA) for Dysautonomia in Adult Survivors of Menkes Disease and Occipital Horn Syndrome
Menkes Disease · Occipital Horn Syndrome
Bottom Line
View on ClinicalTrials.gov: NCT04977388 ↗Enrolled (actual)
3
Serious AEs
0.0%
Results posted
Apr 2026
Primary outcome: Primary: Treatment Related Adverse Events as Assessed by CTCAE v4.0 — 10; 6 adverse events
Study Design & Population
- Study type
- Interventional
- Phase
- Phase 2
- Interventions
- Droxidopa (Drug); Placebo (Other)
- Age
- Adult · 18+ yrs
- Sex
- All
- Sponsor
- Stephen G. Kaler, MD
- Primary completion
- Oct 2023
Outcome Measures
| Outcome | Result | p-value |
|---|---|---|
| PRIMARY Treatment Related Adverse Events as Assessed by CTCAE v4.0 |
10; 6 | — |
| SECONDARY Mean Change in Systolic Blood Pressure in Tilt Position |
-25; -22 | — |
| SECONDARY Mean Change in Diastolic Blood Pressure in Tilt Position |
-8.6; -15 | — |
| SECONDARY Plasma Catechol Levels |
65; 20 | — |
| SECONDARY Change From Baseline in Daily Bowel Movements |
7; 8 | — |
| SECONDARY Change From Baseline in Time Standing Duration |
300; 175 | — |
| SECONDARY Change From Baseline in Timed Up and Go (TUG) Test Performance |
10; 9 | — |
| SECONDARY Change From Baseline in 6 Minute Walk Test Performance |
250; 200 | — |
| SECONDARY Change From Baseline in Scores on the Orthostatic Hypotension Symptom Assessment (OHSA) Questionnaire |
-0.67; 0 | — |
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.
Eligibility Criteria
Inclusion Criteria
- 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.
- 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.
- Documented mutation in ATP7A.
- Must sign and date an Informed Consent Form (ICF).
- Age ≥ 18 years of age.
- Ability to adhere to the prescribed oral Northera (Droxidopa) regimen.
- Willingness to comply with all study visits and procedures.
Exclusion Criteria
- Pre-existing liver (e.g., hepatitis, biliary atresia, cirrhosis) or kidney disease (i.e., calculated glomerular filtration rate <30 ml/min).
- History of hypertension, anti-hypertensive therapy, heart failure (or decreased ejection fraction), cardiac arrhythmia, or bleeding diatheses.
- 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.
- Any alpha-1 adrenoreceptor agonist, beta-blocker, DOPA decarboxylase inhibitor, midodrine, ephedrine, or any triptan medication as a concomitant medication.
Data sourced from ClinicalTrials.gov (NCT04977388). Outcome figures and adverse-event rates are extracted automatically from the registry's posted results and are provided for clinician reference, not as a substitute for the primary publication.