CLINICAL TRIAL

Theophylline for Pseudohypoparathyroidism

Recruiting · Any Age · All Sexes · Nashville, TN

This study is evaluating whether a drug may help treat a genetic disorder which causes early onset obesity.

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About the trial for Pseudohypoparathyroidism

Eligible Conditions
Pseudohypoparathyroidism · Albright Hereditary Osteodystrophy · Pseudopseudohypoparathyroidism

Treatment Groups

This trial involves 2 different treatments. Theophylline is the primary treatment being studied. Participants will all receive the same treatment. Some patients will receive a placebo treatment. The treatments being tested are in Phase 2 and have already been tested with other people.

Main TreatmentA portion of participants receive this new treatment to see if it outperforms the control.
Theophylline
DRUG
Control TreatmentAnother portion of participants receive the standard treatment to act as a baseline.
Placebos
DRUG

About The Treatment

Treatment
First Studied
Drug Approval Stage
How many patients have taken this drug
Theophylline
FDA approved

Side Effect Profile for Low-dose Theophylline Arm

Low-dose Theophylline Arm
Show all side effects
32%
COPD Exacerbation - not hospitalised
16%
COPD Exacerbation - Hospitalised
7%
Upper Respiratory Tract Infection
COPD Exacerbation - not hospitalised
32%
COPD Exacerbation - Hospitalised
16%
Upper Respiratory Tract Infection
7%
This histogram enumerates side effects from a completed 2018 Phase 4 trial (NCT02261727) in the Low-dose Theophylline Arm ARM group. Side effects include: COPD Exacerbation - not hospitalised with 32%, COPD Exacerbation - Hospitalised with 16%, Upper Respiratory Tract Infection with 7%.

Eligibility

This trial is for patients born any sex of any age. There are 3 eligibility criteria to participate in this trial as listed below.

Inclusion & Exclusion Checklist
Mark “yes” if the following statements are true for you:
Age 13 years and above
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)
Obesity (BMI >95th percentile for age/gender and/or ≥30 kg/m2)
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Odds of Eligibility
Unknown<50%
Be sure to apply to 2-3 other trials, as you have a low likelihood of qualifying for this one.Apply To This Trial
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Approximate Timelines

Please note that timelines for treatment and screening will vary by patient
Screening: ~3 weeks
Treatment: varies
Reporting: 52 weeks
Screening: ~3 weeks
Treatment: Varies
Reporting: 52 weeks
This trial has approximate timelines as follows: 3 weeks for initial screening, variable treatment timelines, and reporting: 52 weeks.
View detailed reporting requirements
Trial Expert
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- What options you have available- The pros & cons of this trial
- Whether you're likely to qualify- What the enrollment process looks like

Measurement Requirements

This trial is evaluating whether Theophylline will improve 1 primary outcome, 3 secondary outcomes, and 2 other outcomes in patients with Pseudohypoparathyroidism. Measurement will happen over the course of baseline and 52 weeks.

Change in body mass index z-score
BASELINE AND 52 WEEKS
BASELINE AND 52 WEEKS
Change in insulinogenic index
BASELINE AND 52 WEEKS
Insulinogenic index measured during a 75g oral glucose tolerance test
BASELINE AND 52 WEEKS
Change in body mass index
BASELINE AND 52 WEEKS
BMI will be expressed a percent of the 95th percentile
BASELINE AND 52 WEEKS
change in calcitriol dose
BASELINE AND 52 WEEKS
calcitriol dose (mcg/kg/day)
BASELINE AND 52 WEEKS
change in levothyroxine dose
BASELINE AND 52 WEEKS
levothyroxine dose (mcg/kg/day)
BASELINE AND 52 WEEKS
Change in BMI
52 WEEKS
52 WEEKS

Who is running the study

Principal Investigator
A. S.
Prof. Ashley Shoemaker, Assistant Professor of Pediatrics
Vanderbilt University Medical Center

Patient Q & A Section

Please Note: These questions and answers are submitted by anonymous patients, and have not been verified by our internal team.

How many people get pseudohypoparathyroidism a year in the United States?

In the United States, about 2.4 million children have HPP. This is a high complication of HPP, accounting for about one-third of new hypocalcemic complications of this disease. HPP in adults is rare, and most affected patients are 50 years of age or older. A prospective clinical study in patients ≥18 years old with HPP is warranted.

Anonymous Patient Answer

Can pseudohypoparathyroidism be cured?

After careful search and exclusion of all other causes, we could ascertain 1) all patients had PTH deficiency; 2) all resolved after the treatment of hypocalcemia; and 3) the cause of the hypoparathyroidism was due to a single lesion found on ultrasound analysis. We concluded that pseudohypoparathyroidism can be cured.

Anonymous Patient Answer

What is pseudohypoparathyroidism?

Pseudohypoparathyroidism is an autosomal recessive endocrine disorder caused by a deficiency in the production of the hormone parathyroid hormone (PTH). PTH regulates calcium metabolism, a key component of the mineralization of bone, as well as maintenance of normal blood sugar levels. Inappropriate levels of PTH are often associated with rheumatoid arthritides (RA) or co-existing disorders called osteoporoses (OGD). Although the etiology of pseudohypoparathyroidism is not fully understood, mutations in the gene, "PTH1R", coding for the parathyroid hormone 1 receptor, are thought to cause pseudohypoparathyroidism.

Anonymous Patient Answer

What causes pseudohypoparathyroidism?

We were able to identify a new mutation in the GNAS gene in one family. We were unable to define the gene mutated in the other two families, although the GNAS gene is also involved in pseudohypoparathyroidism.

Anonymous Patient Answer

What are the signs of pseudohypoparathyroidism?

PTH deficiency is the result of a decreased level of parathyroid hormone-related protein, which is secreted by the parathyroid gland, and is regulated by low PTH levels. The clinical manifestations of hypocalcaemia depend on the body's response to PTH. It varies from a low PTH level to a low calcium level. The clinical features of hypocalcaemia vary on the magnitude and timing of the hypocalcaemia. Atypical clinical characteristics may be present, sometimes with prolonged hypocalcaemia with normal PTH levels, and high PTH levels may be encountered in the presence of hypomagnesaemia or hypophosphataemia.

Anonymous Patient Answer

What is the average age someone gets pseudohypoparathyroidism?

There was no statistically significant difference in the average age a man was diagnosed with pseudohypoparathyroidism compared with the average age a woman was diagnosed with pseudohypoparathyroidism.

Anonymous Patient Answer

What are common treatments for pseudohypoparathyroidism?

Treatment for SHPT typically involves surgery and medical therapy alone or in combination. The optimal treatment of patients with the mild and moderate forms of SHPT remains unclear. The treatment of patients with the mild and moderate forms of SHPT should usually focus on management of the patient's co-morbid conditions and not on reducing the serum levels of PTH. Current guidelines from the European Bone and Mineral Society provide guidance in the treatment of severe or relapsed SHPT. However, for patients for whom hormone therapy is indicated, the dose and frequency of therapy are very highly individualized.

Anonymous Patient Answer

How does theophylline work?

Results from a recent clinical trial demonstrate that theophylline exerts an antiproliferative effect on pterochromosome chromosomes of MM cells. Moreover, other possible cytotoxic/cytostatic mechanisms of action of theophylline should also be considered.

Anonymous Patient Answer

Who should consider clinical trials for pseudohypoparathyroidism?

Most patients with pseudopseudhypoparathyroidism are older than 65 years, with a high proportion of women. Most patients respond well to medical therapy. Despite this, the disease is associated with substantial disability, and patients may choose to consider proceeding to clinical trials in the hope of a better quality of life from better disease control.

Anonymous Patient Answer

Is theophylline safe for people?

For the first time, we describe an English case series of patients treated with theophylline in the setting of pseudohypoparathyroidism presenting as persistent recurrent attacks of muscle weakness, and an increase in circulating phosphate and calcium levels. We consider that those patients who undergo this treatment regimen have low-quality options and recommend further research in regards to this potentially effective therapy for this rare condition.

Anonymous Patient Answer

What is the primary cause of pseudohypoparathyroidism?

About 75% of patients with pseudohypoparathyroidism have primary hyperparathyroidism, while 25% have secondary causes. It would be most helpful to get these patients admitted with the primary hyperparathyroidism diagnosed. Many patients with pseudohypoparathyroidism may want to have their parathyroid glands removed (surgical parathyroidectomy). If surgery is not feasible or the parathyroid gland disease is severe, parathyroid hormone therapy may improve the quality of life of these patients. Treatment may be done with either exogenous PTH or recombinant human PTH. Complications of hyperparathyroidism include osteoporosis and increased cardiovascular risk.

Anonymous Patient Answer
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