Theophylline for Treatment of Pseudohypoparathyroidism

NCT04240821 | Enrolling By Invitation Phase 2 DMC FDA Drug

• 1 other identifier: IND 133013 Extension Study
• Study Type: interventional
• Target: 34
• Locations: 1 country
• Sites: 1

Brief Summary

Pseudohypoparathyroidism is a genetic disorder with limited treatment options, characterized by early-onset obesity, short stature, hormone resistance and cognitive impairment. This phase 2 clinical trial will test the efficacy of theophylline, a phosphodiesterase inhibitor, in pseudohypoparathyroidism. We hypothesize that theophylline will cause weight loss, improve glucose tolerance and decrease hormone resistance in children and young adults.

Conditions

Pseudohypoparathyroidism; Albright Hereditary Osteodystrophy; Pseudohypoparathyroidism Type 1a

Outcome Measures

Primary Outcomes (1)

• Adverse Events

  Treatment-emergent adverse events will be compared before and during treatment

  24 months

Secondary Outcomes (1)

• BMI

  24 months

Study Arms (1)

Open-label theophylline

EXPERIMENTAL

Oral theophylline - either once daily capsule or q6h elixir.

Drug: Theophylline ER

Interventions

Theophylline ER DRUG

Oral theophylline

Also known as: Theophylline elixir

Open-label theophylline

Eligibility Criteria

• Age: 2 Years - 99 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• \. Successful completion of the randomized clinical trial "Phase 2 Study of Theophylline Treatment of Pseudohypoparathyroidism IND 133103 (11/1/2016)".

You may not qualify if:

• History of a seizure disorder unrelated to hypocalcemia
• History of a cardiac arrhythmia (not including bradycardia)
• Hepatic insufficiency including cirrhosis and acute hepatitis (AST or ALT \>3x upper limit of normal)
• Congestive heart failure
• Current cigarette use or alcohol abuse
• Pregnancy or intention to become pregnant during the next year
• Active peptic ulcer disease
• Current use of medications known to effect theophylline levels
• History of hypersensitivity to theophylline or other medication components
• Unable to comply with study procedures in the opinion of the investigator

Sponsors & Collaborators

• Jaclyn Tamaroff: lead

Study Sites (1)

Vanderbilt University Medical Center

Nashville, Tennessee, 37212, United States

Location

Related Links

• Research Group Facebook Page

MeSH Terms

Conditions

Pseudohypoparathyroidism

Condition Hierarchy (Ancestors)

Bone Diseases, Metabolic; Bone Diseases; Musculoskeletal Diseases; Metal Metabolism, Inborn Errors; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Metabolic Diseases; Nutritional and Metabolic Diseases; Calcium Metabolism Disorders

Study Officials

• Jaclyn Tamaroff, MD

  Vanderbilt University Medical Center

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: interventional
• Phase: phase 2
• Allocation: NA
• Masking: NONE
• Purpose: TREATMENT
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: SPONSOR INVESTIGATOR
• PI Title: Assistant Professor

Model Details: This is an open-label extension study

Study Record Dates

• First Submitted: January 21, 2020
• First Posted: January 27, 2020
• Study Start: May 22, 2020
• Primary Completion (Estimated): December 31, 2026
• Study Completion (Estimated): December 31, 2026
• Last Updated: April 28, 2026

Record last verified: 2026-02

Data Sharing

• IPD Sharing: Will share
• Shared Documents: STUDY PROTOCOL, SAP, ICF
• Time Frame: After publication
• Access Criteria: University faculty

Locations

US (1)