Spironolactone Improved Children With NCOR Mutations

Launched by QILU HOSPITAL OF SHANDONG UNIVERSITY · Nov 5, 2024

Keywords

ClinConnect Summary

This clinical trial is studying how a medication called spironolactone can help children with specific genetic mutations known as NCOR1/2 mutations, which are linked to autism spectrum disorder (ASD). Researchers believe that spironolactone might improve certain challenges these children face, such as learning difficulties and social interaction issues. The trial aims to gather more information on whether this medication can positively affect children with these mutations.

To participate in the study, children must be between 3 and 10 years old, have a confirmed NCOR1/2 mutation, and meet certain diagnostic criteria for autism. Their parents or guardians will need to give consent for them to take part in the trial and allow researchers to collect data and samples. Participants will undergo various assessments to see how spironolactone impacts their symptoms over time. It's important to note that the trial is currently not recruiting participants, but it represents an exciting opportunity to explore new treatment options for children facing these challenges.

Gender

ALL

Eligibility criteria

• Inclusion Criteria:
• • 1. ADOS-2 diagnostic criteria for autistic children
• • 2. Patients with NCOR1/2 gene mutation detected by whole exon test;
• • 3. Age: 3-10 years old;
• • 4. The subject and (or) guardian sign the informed consent, agreeing that the researcher will cooperate with the clinical trial process and collect clinical data and peripheral blood and urine samples;
• Exclusion Criteria:
• • 1. have other pathogenic mutations (confidence higher than the NCOR1/2 mutation);
• • 2. Boys over 10 years old;
• • 3. Allergic to spironolactone, used spironolactone one month before enrollment;
• • 4. Hyperkalemia, serum potassium concentration \> 5.5mmol/L;
• • 5. Renal insufficiency;
• • 6. Used related drugs one month before enrollment: potassium supplement, angiotensin-converting enzyme inhibitor, angiotensin receptor blocker, digoxin, coletenamine, acetylsalicylic acid, abiraterone;
• • 7. Fever (body temperature above 37.3°);
• • 8. Clinically significant metabolic, hematological, liver, immune, urological, endocrine, neurological, pulmonary, psychiatric, skin, allergic, renal, or other major conditions in the determination of ASD that may affect the interpretation of study findings or patient safety.