Droxidopa for Menkes Disease

Overseen By Stephen G Kaler, MD, MPH

Age: < 18

Sex: Any

Trial Phase: Phase 1 & 2

Sponsor: Stephen G. Kaler

Must not be taking: Alpha-1 agonists, Beta-blockers, Triptans

Disqualifiers: Liver disease, Kidney disease, Hypertension, others

Compensation: Varies

Number of Visits: 2

Duration: 8 weeks

6 Participants Needed

What You Need to Know Before You Apply

What is the purpose of this trial?

This trial explores a treatment called Northera (Droxidopa) for children with Menkes disease who experience symptoms like dizziness and low blood pressure when standing. The trial aims to determine if Droxidopa can safely improve these symptoms and enhance quality of life. Participants should be children or teens aged 7 to 17 with Menkes disease who have experienced dizziness or bowel issues for more than four weeks. As a Phase 1/Phase 2 trial, this research focuses on understanding how the treatment works and measuring its effectiveness in an initial, smaller group, offering participants a chance to contribute to important medical advancements.

Will I have to stop taking my current medications?

Yes, you will need to stop taking certain medications, including any alpha-1 adrenoreceptor agonist, beta-blocker, DOPA decarboxylase inhibitor, midodrine, ephedrine, or any triptan medication.

Is there any evidence suggesting that Droxidopa is likely to be safe for children with Menkes disease?

Research has shown that Northera (Droxidopa) has been tested for safety in people with conditions similar to Menkes disease. In these studies, patients reported improvements in symptoms such as dizziness, lightheadedness, and feeling faint, suggesting that Droxidopa is generally well-tolerated.

Additionally, the FDA has already approved Droxidopa for treating certain symptoms in another condition, indicating it has passed safety checks for that use and providing some reassurance about its safety.

While some side effects may occur, the ongoing Phase 1/2 trial for Menkes disease survivors indicates that Droxidopa is considered relatively safe for this group. This phase primarily focuses on assessing the safety and tolerability of the treatment in a new group of patients. ^{1 2 3 4 5}

Why do researchers think this study treatment might be promising?

Droxidopa is unique because it targets norepinephrine deficiency, which is a key issue in Menkes disease. Unlike the standard of care that primarily focuses on managing symptoms with copper injections, droxidopa aims to address the underlying biochemical imbalance by boosting norepinephrine levels. Researchers are excited about this treatment because it offers a new mechanism of action that could improve neurological function and overall quality of life for patients with Menkes disease.

What evidence suggests that Droxidopa might be an effective treatment for Menkes disease?

Research shows that Droxidopa, which participants in this trial may receive, can help treat symptoms of dysautonomia, such as dizziness and low blood pressure, in patients with conditions like Menkes disease. Studies involving adults and young adults with dysautonomia, a condition affecting the nervous system, have found that Droxidopa can improve symptoms like fainting and a drop in blood pressure when standing up. Droxidopa increases norepinephrine, a chemical that helps control blood pressure and is often low in people with dysautonomia. Early findings suggest that Droxidopa can raise blood pressure and improve quality of life. Although limited research exists on children with Menkes disease, the drug's mechanism offers hope for improving symptoms in this group. ^{1 2 3 4 5}

Who Is on the Research Team?

Stephen G Kaler, MD, MPH

Principal Investigator

Columbia University

Are You a Good Fit for This Trial?

This trial is for children aged 7-17 with Menkes disease who have survived due to early treatment, can walk and attend school, but show signs of dysautonomia like low blood pressure upon standing or chronic diarrhea. They must be able to take oral medication as prescribed and commit to study visits. A documented ATP7A mutation is required, parental consent, and the child's assent.

Inclusion Criteria

I have a confirmed ATP7A mutation.

Willingness to comply with all study visits and procedures

I can follow the Northera medication schedule as prescribed.

Exclusion Criteria

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

I have liver or kidney disease.

I have been diagnosed with early-stage high blood pressure.

Timeline for a Trial Participant

Screening

Participants are screened for eligibility to participate in the trial

2-4 weeks

Treatment

Participants receive either Northera (Droxidopa) or placebo in a double-blind crossover design to evaluate safety and efficacy

8 weeks

Weekly visits for monitoring and dose titration

Follow-up

Participants are monitored for safety and effectiveness after treatment

4 weeks

2 visits (in-person)

What Are the Treatments Tested in This Trial?

Interventions

• Droxidopa

Trial Overview

The trial tests Northera (Droxidopa) for safety and effectiveness in improving symptoms of dysautonomia in pediatric Menkes disease survivors. It uses a double-blind placebo-controlled crossover design where participants will receive either the drug or a placebo at different times without knowing which one they're taking.

How Is the Trial Designed?

Group I: Droxidopa Treatment Arm Experimental Treatment 1 Intervention

Oral administration of droxidopa study drug.

Group II: Placebo Control Arm Placebo Group 1 Intervention

Oral administration of placebo control capsules that are indistinguishable from study drug.

Who Is Running the Clinical Trial?

Stephen G. Kaler

Lead Sponsor

Citations

1.

clinicaltrials.gov

clinicaltrials.gov/study/NCT07398508

Phase I/II Study of NORTHERA (DROXIDOPA) for ...

This clinical trial will evaluate the safety, tolerability, dosing, and efficacy of Northera (Droxidopa) in children with Menkes disease ...

2.

trialx.com

trialx.com/clinical-trials/listings/226793/northera-droxidopa-for-dysautonomia-in-adult-survivors-of-menkes-disease-and-occipital-horn-syndrome/

NORTHERA (DROXIDOPA) for Dysautonomia in Adult ...

The outcomes and information from this study may help adult survivors of Menkes disease and individuals with OHS lead more normal day-to-day ...

3.

ctv.veeva.com

ctv.veeva.com/study/phase-i-ii-study-of-northera-droxidopa-for-dysautonomia-in-pediatric-survivors-of-menkes-disease

Phase I/II Study of NORTHERA (DROXIDOPA) for ...

This clinical trial will evaluate the safety, tolerability, dosing, and efficacy of Northera (Droxidopa) in children with Menkes disease ...

4.

clinicaltrials.gov

clinicaltrials.gov/study/NCT04977388

NORTHERA (DROXIDOPA) for Dysautonomia in Adult ...

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 ...

5.

withpower.com

withpower.com/trial/phase-2-menkes-kinky-hair-syndrome-6-2021-7bca5

Droxidopa for Dysautonomia in Menkes Disease

This trial explores whether the medication Northera (Droxidopa) is safe and effective for adults who have survived Menkes disease with severe complications ...