Pseudohypoparathyroidism and PseudopseudohypoparathyroidismNCT03761290
Glucose Homeostasis in Pseudohypoparathyroidism
An observational study of Pseudohypoparathyroidism and Pseudopseudohypoparathyroidism and Pseudohypoparathyroidism Type Ia, run by Vanderbilt University Medical Center at 1 site in United States.
Trial summary
It is increasingly recognized that Pseudohypoparathyroidism type 1A (PHP1A) is associated with an increased risk of type 2 diabetes but the mechanism is unknown. In this pilot study we will assess β-cell function in patients with PHP1A and pseudopseudohypoparathyroidism PPHP. Read more about this study
- Who is it for?
- Ages 6 to 50 years
- Conditions the study is for
- Pseudohypoparathyroidism and Pseudopseudohypoparathyroidism, Pseudohypoparathyroidism Type Ia, Albright Hereditary Osteodystrophy
- How many people
- 14 participants
- Where
- 1 siteUnited States
- Study dates
- 19 Jun 2019to 30 Apr 2021
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 6 to 50 years
- All sexes
- Child, Adult
Study population: Patients with PHP1A/PPHP and matched controls
Who may be able to join
- Diagnosis of PHP1A/PPHP
- Age between 6 and 50 years old
- Controls will be matched based on:
- Gender
- Race
- Age (±2 years if <25 years old or ±5 years if ≥25 years old)
- BMI (±2 kg/m2)
- Diabetes status
Who cannot join
- Treatment with appetite-altering drug or initiation of a new weight loss program in the past 3 months
- Type 1 diabetes
- Type 2 diabetes treated with insulin or GLP-1 receptor agonists or A1c >9%at their most recent clinic visit
- Pregnant or lactating women
Trial locations and contacts
1 site in 1 country.
United States1 site
Vanderbilt University Medical Center
Nashville, Tennessee, 37212
About this study
Official title: Glucose Homeostasis and Beta Cell Function in Pseudohypoparathyroidism
It is increasingly recognized that Pseudohypoparathyroidism type 1A (PHP1A) is associated with an increased risk of type 2 diabetes but the mechanism is unknown. In this pilot study we will assess β-cell function in patients with PHP1A and pseudopseudohypoparathyroidism PPHP.
Read the detailed description
Pseudohypoparathyroidism type 1A (PHP1A) is a rare, genetic disorder caused by impaired stimulatory G-protein signaling due to heterozygous mutations in the gene, GNAS. The most severe form of the disease, PHP1A occurs when a GNAS mutation is inherited on the preferentially expressed maternal allele. A less severe form of the disease, pseudopseudohypoparathyroidism (PPHP), occurs when a GNAS mutation is inherited on the paternal allele. Clinically, PHP1A is characterized by multi-hormone resistance, cognitive impairment and early-onset obesity while PPHP has a mild phenotype without multi-hormone resistance. It is increasingly recognized that PHP1A is associated with an increased risk of type 2 diabetes but the mechanism is unknown. Glucose homeostasis and diabetes risk has not been studied in PPHP. As part of the parent K23 award, we investigated glucose tolerance in children with PHP1A. In contrast to the adult literature, we found that children with PHP1A had greater insulin sensitivity than matched controls. When challenged with an oral glucose load, however, children with PHP1A had persistent hyperglycemia and 25% met criteria for impaired glucose tolerance. The goal of this proposal is to quantify β-cell function in PHP1A. It is plausible that these individuals have a) impaired β-cell function, b) differences in insulin sensitivity, and c) impaired incretin function. Thus, in this pilot study we will definitively assess one of these, β-cell function, using the frequently sampled intravenous glucose tolerance test in patients with PHP1A and PPHP (aim 1). We will also assess oral glucose tolerance over time by bringing back children and young adults with PHP1A from our original cohort for repeat glucose tolerance testing (aim 2). The ultimate goal is to rigorously define glucose homeostasis defects in PHP1A in order to design and conduct an intervention study for glucose intolerance and type 2 diabetes in PHP1A.
- Conditions
- Pseudohypoparathyroidism and Pseudopseudohypoparathyroidism, Pseudohypoparathyroidism Type Ia, Albright Hereditary Osteodystrophy
- Medical subject headings
- Pseudohypoparathyroidism, Pseudopseudohypoparathyroidism
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Pseudphypoparathyroidism type 1A (PHP1A) | Case | |
| Pseudopseudohypoparathyroidism (PPHP) | Case | |
| Controls | Matched control group |
What is being measured
The primary outcome is the main question the study is designed to answer.
Insulin sensitivity (Si)
Measured: baseline
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted3 Dec 2018
- Study start19 Jun 2019
- Primary completion30 Apr 2021
- Study completion30 Apr 2021
Why it stopped: COVID precautions prevented enrollment of healthy controls, funding ended.
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for Pseudohypoparathyroidism and PseudopseudohypoparathyroidismStudies of the same condition, open and under way.
- More trials run by Vanderbilt University Medical CenterThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case-control
- Time perspective
- Cross-sectional
- Enrolment
- 14 participants (actual)
Sponsor and investigators
- Lead sponsor
- Vanderbilt University Medical Center
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Ashley Shoemaker, Vanderbilt University Medical Center
- Investigators
- Ashley H Shoemaker, MD, Principal investigator, Vanderbilt University Medical Center
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03761290
- Sponsor's protocol ID
- Shoemaker R03
- Status last verified
- Apr 2026
- First submitted
- 29 Nov 2018
- Last updated
- 4 May 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Publications
Perez KM, Curley KL, Slaughter JC, Shoemaker AH. Glucose Homeostasis and Energy Balance in Children With Pseudohypoparathyroidism. J Clin Endocrinol Metab. 2018 Nov 1;103(11):4265-4274. doi: 10.1210/jc.2018-01067.
PubMed 30085125
Study at a glance
From the registry record, last updated by the sponsor on 4 May 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Glucose Homeostasis and Beta Cell Function in Pseudohypoparathyroidism
- ClinicalTrials.gov ID
- NCT03761290
- Acronym / sponsor ID
- Shoemaker R03
- Conditions
- Pseudohypoparathyroidism and Pseudopseudohypoparathyroidism, Pseudohypoparathyroidism Type Ia, Albright Hereditary Osteodystrophy
- Study type
- Observational
- Recruitment status
- TerminatedReason stopped: COVID precautions prevented enrollment of healthy controls, funding ended.
- Enrolment
- 14 participants (actual)
- Lead sponsor
- Vanderbilt University Medical CenterUniversity, hospital or other
- Study start
- 19 Jun 2019 (actual)
- Primary completion
- 30 Apr 2021 (actual)
- Study completion
- 30 Apr 2021 (actual)
- First posted
- 3 Dec 2018 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
It is increasingly recognized that Pseudohypoparathyroidism type 1A (PHP1A) is associated with an increased risk of type 2 diabetes but the mechanism is unknown. In this pilot study we will assess β-cell function in patients with PHP1A and pseudopseudohypoparathyroidism PPHP.
Detailed description
Pseudohypoparathyroidism type 1A (PHP1A) is a rare, genetic disorder caused by impaired stimulatory G-protein signaling due to heterozygous mutations in the gene, GNAS. The most severe form of the disease, PHP1A occurs when a GNAS mutation is inherited on the preferentially expressed maternal allele. A less severe form of the disease, pseudopseudohypoparathyroidism (PPHP), occurs when a GNAS mutation is inherited on the paternal allele. Clinically, PHP1A is characterized by multi-hormone resistance, cognitive impairment and early-onset obesity while PPHP has a mild phenotype without multi-hormone resistance. It is increasingly recognized that PHP1A is associated with an increased risk of type 2 diabetes but the mechanism is unknown. Glucose homeostasis and diabetes risk has not been studied in PPHP. As part of the parent K23 award, we investigated glucose tolerance in children with PHP1A. In contrast to the adult literature, we found that children with PHP1A had greater insulin sensitivity than matched controls. When challenged with an oral glucose load, however, children with PHP1A had persistent hyperglycemia and 25% met criteria for impaired glucose tolerance. The goal of this proposal is to quantify β-cell function in PHP1A. It is plausible that these individuals have a) impaired β-cell function, b) differences in insulin sensitivity, and c) impaired incretin function. Thus, in this pilot study we will definitively assess one of these, β-cell function, using the frequently sampled intravenous glucose tolerance test in patients with PHP1A and PPHP (aim 1). We will also assess oral glucose tolerance over time by bringing back children and young adults with PHP1A from our original cohort for repeat glucose tolerance testing (aim 2). The ultimate goal is to rigorously define glucose homeostasis defects in PHP1A in order to design and conduct an intervention study for glucose intolerance and type 2 diabetes in PHP1A.
Study design
- Observational model
- Case-control
- Time perspective
- Cross-sectional
- Number of arms
- 3
| Arm | Type | Receives |
|---|---|---|
| Pseudphypoparathyroidism type 1A (PHP1A) | – | –Case |
| Pseudopseudohypoparathyroidism (PPHP) | – | –Case |
| Controls | – | –Matched control group |
Who may qualify
- Ages
- 6 to 50 years
- Sex
- All
- Age groups
- Child, Adult
- Study population
- Patients with PHP1A/PPHP and matched controls
Key inclusion criteria (8 listed)
- Diagnosis of PHP1A/PPHP
- Age between 6 and 50 years old
- Gender
- Race
- Age (±2 years if <25 years old or ±5 years if ≥25 years old)
Key exclusion criteria (4 listed)
- Treatment with appetite-altering drug or initiation of a new weight loss program in the past 3 months
- Type 1 diabetes
- Type 2 diabetes treated with insulin or GLP-1 receptor agonists or A1c >9%at their most recent clinic visit
- Pregnant or lactating women
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Insulin sensitivity (Si)
Time frame: baseline
Results and safety
The study was stopped early (reason given: COVID precautions prevented enrollment of healthy controls, funding ended.). Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 4 May 2026.
- Background: PubMed 30085125Perez KM, Curley KL, Slaughter JC, Shoemaker AH. Glucose Homeostasis and Energy Balance in Children With Pseudohypoparathyroidism. J Clin Endocrinol Metab. 2018 Nov 1;103(11):4265-4274. doi: 10.1210/jc.2018-01067.
- Vanderbilt PHP Research PageLink provided by the sponsor.
- Individual participant dataSharing planned: No
Related trials for Pseudohypoparathyroidism and Pseudopseudohypoparathyroidism
RecruitingObservational study
Natural History Study of Parathyroid Disorders
Parathyroid Cancer, Primary Hyperparathyroidism
RecruitingObservational study
German Hypoparathyroidism Registry
Hypoparathyroidism, Pseudohypoparathyroidism
Active, not recruitingPhase 2
Theophylline Treatment for Pseudohypoparathyroidism
Pseudohypoparathyroidism, Albright Hereditary Osteodystrophy
Enrolling by invitationPhase 2
Theophylline for Treatment of Pseudohypoparathyroidism
Pseudohypoparathyroidism, Pseudohypoparathyroidism Type 1a
Enrolling by invitationPhase 2
Setmelanotide to Treat Obesity in a Patient With Pseudohypoparathyroidism Type 1a (PHP1a)
Pseudohypoparathyroidism Type 1a, Obesity
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Ashley H Shoemaker, MD principal investigator
Vanderbilt University Medical Center
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Pseudohypoparathyroidism and Pseudopseudohypoparathyroidism and Pseudohypoparathyroidism Type Ia, run by Vanderbilt University Medical Center at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 8 inclusion and 4 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: stopped early, as of the sponsor's last update on 4 May 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study was stopped early (reason given: COVID precautions prevented enrollment of healthy controls, funding ended.). Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Insulin sensitivity (Si) (time frame: baseline). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT03761290, which also lists 1 linked publication.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 4 May 2026.