Theophylline Treatment for Pseudohypoparathyroidism
Pseudohypoparathyroidism is a genetic disorder with limited treatment options. Patients have early-onset obesity, short stature and increased risk of type 2 diabetes. This phase 2 clinical trial will test the efficacy of theophylline, a phosphodiesterase inhibitor, in pseudohypoparathyroidism. The investigators hypothesize that theophylline will cause weight loss, improve glucose tolerance and slow growth plate closure in children and young adults.
Conditions:
🦠 Pseudohypoparathyroidism 🦠 Albright Hereditary Osteodystrophy
🗓️ Study Start (Actual) 1 September 2018
🗓️ Primary Completion (Estimated) 1 July 2026
✅ Study Completion (Estimated) 1 November 2026
👥 Enrollment (Estimated) 34
🔬 Study Type INTERVENTIONAL
📊 Phase PHASE2
Locations:
📍 Nashville, Tennessee, United States

📋 Eligibility Criteria

Description

    Inclusion Criteria:

    • 1. Age 13 years and above
    • 2. Clinical diagnosis of PHP (per the EuroPHP network classification guidelines1): Presence of PTH resistance or ectopic classification OR brachydactyly type E plus 2 minor criteria (TSH resistance, other hormonal resistance, developmental delay, intrauterine or post-natal growth retardation, obesity/overweight, specific facial features)
    • 3. Obesity (BMI \>95th percentile for age/gender and/or ≥30 kg/m2)

    Exclusion Criteria:

    • 1. Use of a PDE inhibitor in the past 30 days
    • 2. History of a seizure disorder unrelated to hypocalcemia
    • 3. History of a cardiac arrhythmia (not including bradycardia)
    • 4. Hepatic insufficiency including cirrhosis and acute hepatitis (AST or ALT \>3x upper limit of normal)
    • 5. Congestive heart failure
    • 6. Current cigarette use or alcohol abuse
    • 7. Pregnancy or intention to become pregnant during the next year
    • 8. Untreated hypothyroidism (defined as free thyroxine below the lower limit of normal)
    • 9. Active peptic ulcer disease
    • 10. Current use of medications known to effect theophylline levels
    • 11. History of hypersensitivity to theophylline or other medication components
    • 12. History of Major Depressive Disorder in the past 2 years, lifetime history of suicide attempt, history of any suicidal behavior in the past month, history of other sever psychiatric disorders (e.g. schizophrenia, bipolar disorder)
    • 13. PHQ-9 score is ≥15 or suicidal ideation of type 4 or 5 (C-SSR) in the past month
    • 14. Unable to comply with study procedures in the opinion of the investigator
Ages Eligible for Study: 13 Years to 99 Years (CHILD, ADULT, OLDER_ADULT)
Sexes Eligible for Study: ALL
Accepts Healthy Volunteers: No

🗓️ Study Record Dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Registration Dates

  • First Submitted 18 January 2017
  • First Submitted that Met QC Criteria 23 January 2017
  • First Posted 24 January 2017

Study Record Updates

  • Last Update Submitted that Met QC Criteria 1 April 2024
  • Last Update Posted 2 April 2024
  • Last Verified April 2024