Actively Recruiting

Phase 1
Phase 2
Age: 7Years - 17Years
All Genders
ID07398508

Phase I/II Study of NORTHERA (DROXIDOPA) for Dysautonomia in Pediatric Survivors of Menkes Disease: Double-blind Placebo-controlled Randomized Crossover Clinical Trial

Led by Stephen G. Kaler · Updated on 2026-02-10

6

Participants Needed

1

Research Sites

N/A

Total Duration

On this page

AI-Summary

What this Trial Is About

Researchers are evaluating the safety, tolerability, dosing, and effectiveness of Northera (Droxidopa) in children aged 7 to 17 years who survived the major neurodegenerative effects of Menkes disease after early treatment with Copper Histidinate. This clinical trial focuses on pediatric survivors who experience symptoms of dysautonomia, such as dizziness, orthostatic hypotension, and bowel or bladder dysfunction, caused by a deficiency of the enzyme dopamine-beta-hydroxylase. The study aims to improve blood neurochemical levels, increase systolic blood pressure, and enhance quality of life. Participants will receive oral doses of Droxidopa or matching placebo capsules in a double-blind, randomized crossover design. Doses will be carefully adjusted for each child, with the medication given twice daily in a liquid suspension form prepared from capsules and simple syrup. Each treatment period lasts four weeks, with two treatment phases assessing active drug and placebo effects. The study will also validate a questionnaire assessing orthostatic hypotension symptoms for this population. During the trial, children will be closely monitored for safety and treatment effects through blood tests measuring neurochemical levels, blood pressure readings, and physical tests such as standing time and six-minute walk distance. Researchers will track any adverse events over ten weeks and evaluate symptoms through questionnaires. Participants will attend multiple study visits and are expected to follow the prescribed medication schedule while undergoing assessments of their physical and neurological function.

CONDITIONS

Brief Title

Phase I/II Study of NORTHERA (DROXIDOPA) for Dysautonomia in Pediatric Survivors of Menkes Disease.

Who Can Participate

Age: 7Years - 17Years
All Genders

Eligibility Criteria

Eligible

You may qualify if you...

  • Children or adolescents aged 7 to 17 years with Menkes disease who survived beyond expected natural history after early Copper Histidinate treatment
  • Participants must have clinical signs and symptoms of dysautonomia, including orthostatic hypotension or chronic diarrhea lasting more than four weeks
  • History of at least thrice weekly dizziness or diarrhea episodes for more than four weeks
  • Documented ATP7A gene mutation
  • One parent must sign informed consent and patient must assent
  • Ability to adhere to oral Northera (Droxidopa) regimen
  • Willingness to comply with all study visits and procedures
Not Eligible

You will not qualify if you...

  • Pre-existing liver diseases such as hepatitis, biliary atresia, or cirrhosis
  • Pre-existing kidney disease with glomerular filtration rate below 30 ml/min
  • History of age-adjusted stage 1 hypertension (≥ 95th percentile)
  • History of anti-hypertensive therapy, heart failure, cardiac arrhythmia, or bleeding disorders
  • Use of medications including alpha-1 adrenoreceptor agonists, beta-blockers, DOPA decarboxylase inhibitors, midodrine, ephedrine, or triptans
  • Any condition likely to prevent completion of the study or compliance with study requirements

AI-Screening

AI-Powered Screening

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Your Study Journey

Screening

Duration - 2 to 4 weeks

Participants are screened for eligibility to participate in the trial.

1 visit (in-person)

Treatment

Duration - 4 weeks per treatment period

Participants receive oral doses of Droxidopa or placebo twice daily in a randomized crossover design to evaluate safety and efficacy for dysautonomia symptoms.

1 baseline visit and 1 follow-up visit per treatment period

Trial Site Locations

Total: 1 location

1

Vagelos College of Physicians and Surgeons, Columbia University

New York, New York, United States, 10032

Actively Recruiting

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Research Team

S

Stephen G Kaler, MD, MPH

How is the study designed?

Study Type

INTERVENTIONAL

Masking

QUADRUPLE

Allocation

RANDOMIZED

Model

CROSSOVER

Primary Purpose

OTHER

Number of Arms

2

Frequently Asked Questions

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