Copper Histidinate Treatment for Menkes Disease

This study investigates the clinical effects and safety of subcutaneous Copper Histidinate treatment for newly diagnosed Menkes disease patients under 6 years of age.

Study Overview

• Status: Available
• Conditions: Menkes Disease
• Intervention / Treatment: Drug: Copper Histidinate

• Study Type: Expanded Access
• Expanded Access Type: Intermediate-size Population

Contacts and Locations

• Study Contact: Name: Sentynl Therapeutics Study Team; Phone Number: 888-507-5206; Email: studyinfo@sentynl.com

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 1 second to 6 years (Child)
• Accepts Healthy Volunteers: N/A

Description

Inclusion Criteria:

1. The subject must be a newly diagnosed Menkes disease patient in the United States.
2. Must sign and date an informed consent form by parent or legal guardian for this study prior to any assessment being done in this study.
3. Male or female, aged 0 to <6 years of age.

4. Confirmed diagnosis of Menkes disease based on the following clinical and/or biochemical and/or molecular characteristics:

   Clinical: Abnormal hair color and/or texture, and/or seizures, and/or hypotonia, and/or developmental delay; or Biochemical: Low serum copper levels (< 75 mcg/dL) and/or ceruloplasmin and/or abnormal plasma catecholamine levels; or Molecular: Mutation(s) in the ATP7A gene (deletion/duplication, nonsense, missense, or canonical or non-canonical splice junction mutations).

5. For newly diagnosed Menkes disease patients, whose molecular ATP7A gene mutation confirmation is pending these patients should have serum copper levels < 75 mcg/dL.
6. Ability to adhere to the prescribed subcutaneous Copper Histidinate injection 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 (e.g., serum creatinine >1.0 mg/dL).
2. History of bleeding diatheses.
3. Diagnosis of Wilson disease.
4. 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.
5. Participation in any other investigational trial in which receipt of investigational drug or device occurred within 30 days prior to screening for this study.

Study Plan

How is the study designed?

Collaborators and Investigators

• Sponsor: Sentynl Therapeutics, Inc.

Publications and helpful links

Helpful Links

• Related Info

Study record dates

Study Registration Dates

• First Submitted: August 27, 2019
• First Submitted That Met QC Criteria: August 29, 2019
• First Posted (Actual): August 30, 2019

Study Record Updates

• Last Update Posted (Actual): April 11, 2024
• Last Update Submitted That Met QC Criteria: April 9, 2024
• Last Verified: April 1, 2024

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Metabolic Diseases; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Skin Diseases; Neurologic Manifestations; Neurobehavioral Manifestations; Genetic Diseases, Inborn; Genetic Diseases, X-Linked; Metabolism, Inborn Errors; Mental Retardation, X-Linked; Intellectual Disability; Heredodegenerative Disorders, Nervous System; Brain Diseases, Metabolic; Brain Diseases, Metabolic, Inborn; Metal Metabolism, Inborn Errors; Hair Diseases; Menkes Kinky Hair Syndrome; Physiological Effects of Drugs; Trace Elements; Micronutrients; Copper
• Other Study ID Numbers: CYP-001