Menkes Disease Clinic

Menkes Disease Clinic

The Menkes Disease Clinic at Nationwide Children’s Hospital provides diagnostic, treatment and support services to infants, children, adolescents and adults with Menkes Disease and related disorders of copper transport, and their families.

If your family is in a crisis situation and needs immediate help, please call your county’s mental health crisis number. In Franklin County, Ohio, youth and adolescents 17 and under should call (614) 722-1800. Ages 18 and older should call (614) 276-2273. If outside Franklin County, please call 911 and/or go to your nearest local emergency department.

Our Services

Established in November 2019, the Menkes Disease Clinic is led by Stephen G. Kaler, MD, a physician-scientist and human geneticist with 30 years’ clinical and basic research experience with this illness. The Menkes Disease Clinic offers comprehensive clinical, biochemical, and molecular evaluations of infants and children affected with Menkes Disease. We also offer opportunities to participate in FDA-approved Expanded Access clinical protocols and trials of other experimental therapies for Menkes disease (see below).

Special attention is devoted to the neurodevelopmental, nutritional, gastrointestinal, cardiac, pulmonary, renal, urological and other medical problems for which infants and children with Menkes disease may be at-risk. Referral to other medical specialists, as well as laboratory and neuroradiologic assessments, can be arranged as needed. Experimental clinical protocols to evaluate potential treatments for Menkes disease, including Copper Histidinate, Northera, and ATP7A  viral gene therapy are now or will be available to eligible Menkes patients. The broad, overarching goal of our clinical and research effort is to improve the lives of children and families impacted by Menkes and work toward the day when treatment of this difficult illness is more complete.

Menkes disease families will be linked to medical, educational, psychosocial, and financial support services in their local communities, as needed. Resources are identified to assist parents in meeting the unique needs of their child. A working relationship will be maintained between the Menkes Disease Clinic staff and the child’s primary care physician.

Non-research services in the Menkes Disease Clinic are covered by most insurance providers. To expedite insurance coverage, we recommend a referral be sent to the clinic by the patient’s primary care physician. It is also recommended that the family contact their insurance company prior to visiting the Menkes Disease Clinic.

Our Team

Our approach to care is provided by a multidisciplinary team that includes the following providers:

  • Dr. Kaler, and other physicians, residents, fellows and medical students
  • genetic counselor 
  • metabolic dietitian 
  • physical therapist 
  • genetics and metabolism clinic nurse 
  • investigational drug service pharmacist 
  • clinical research coordinator
  • social work

Your First Menkes Disease Clinic Visit

How long will my first appointment take?

Initial consultation appointments take about 2.5 hours from start to finish. 

Who will I see?

  • a medical assistant (vital signs and growth measurements)
  • a genetics counselor (to obtain a detailed family history or “pedigree’)
  • Dr. Kaler and other physicians, residents, fellows and medical students
  • a physical therapist for evaluation, if indicated
  • a metabolic dietician if needed for nutrition counseling
  • a nurse for Copper Histidinate (CuHis) injection teaching, if indicated
  • a pharmacist to discuss CuHis or other medications, if prescribed
  • social work, if indicated

What services will be provided?

  • comprehensive medical evaluation including medical history and physical exam
  • recommended clinical laboratory testing
  • recommended neuroimaging and/or EEG testing
  • genetic counseling
  • nutritional counseling
  • standardized evaluation/testing by a physical therapist, if indicated
  • personalized consultation regarding issues raised by the parent/child
  • behavioral, educational and therapeutic consultation/recommendations

What do I need to bring?

It would be helpful if you brought along copies of key medical records you believe may be relevant. Prior to attending the clinic, you will also be asked to complete a Menkes Disease Clinic Intake Form. 

Request an Appointment

To refer your child for a new evaluation or consultation in the Menkes Disease Clinic, please call (614) 722-3545.

If your family is in a crisis situation and needs immediate help, please call your county’s mental health crisis number. In Franklin County, Ohio, youth and adolescents 17 and under should call (614) 722-1800. Ages 18 and older should call (614) 276-2273. If outside Franklin County, please call 911 and/or go to your nearest local emergency department. 

I requested an appointment. What happens next?

We will send you a Menkes Disease Clinic intake form to collect demographic information, and will contact you by telephone to answer any initial questions about the clinic and to request your health insurance information. We will then schedule your child’s appointment. The Menkes Disease Clinic is generally held on Wednesday afternoons. 

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