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Pseudohypoparathyroidism clinical trials

View clinical trials related to Pseudohypoparathyroidism.

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NCT ID: NCT05945576 Recruiting - Clinical trials for Prader-Willi Syndrome

IDMet (RaDiCo Cohort) (RaDiCo-IDMet)

IDMet
Start date: March 10, 2017
Phase:
Study type: Observational

The goal of this observational study is to describe the natural history of imprinting disorders (IDs) according to their metabolic profile in all patients (adults and children) affected with an ID regardless of the severity of the disease, with a molecular characterization, with a signed informed consent for all subjects, followed in one partner's center. The main questions it aims to answer are: - Can we identify common metabolic profiles for all imprinted diseases? - Which imprinting disorders have an impact on the metabolic profiles of IDs? - Which are the metabolic risks associated to IDs? - Can we use the metabolic profiles for the clinical classification and prognosis of IDs? - Are there common therapeutic approaches for all IDs?

NCT ID: NCT04969926 Recruiting - Clinical trials for Primary Hyperparathyroidism

Natural History Study of Parathyroid Disorders

Start date: November 30, 2021
Phase:
Study type: Observational

Background: Parathyroid disorders are very common in the general population and include disorders of parathyroid excess, deficiency, or defects in parathyroid hormone (PTH) signaling. PTH, the main secretory product of parathyroid glands is responsible for regulation of calcium-phosphate homeostasis. Objective: i) To investigate the cause of parathyroid disorders ii) To describe evolution, natural history, and longitudinal trends of parathyroid and related disorders seen in syndromic presentations like multiple endocrine neoplasia, hyperparathyroidism-jaw tumor syndrome Eligibility: People ages 6 months older who have, are at risk of having, or are related to a person with a parathyroid or related disorder. Design: Participants will be screened with a review of their medical records. Participants will be seen, tested, and treated by doctors based on their condition. Their visits may be in person or via telehealth. Participants will complete questionnaires. They will answer questions about their physical, mental, and social health. Participants may give samples such as saliva, blood, urine, or stool. Participants may give cheek cell samples. They will do this using a cheek swab or by spitting into a cup. Adult participants may give a skin biopsy. For this, a small bit of skin is removed with a punch tool. Participants may have medical photos taken. If participants have surgery during the course of their regular care either at the NIH or at a different hospital or doctor s office, researchers will ask for some of the leftover tissue. Participants will be in the study as long as they are being seen by their doctor.

NCT ID: NCT04671719 Completed - Hyperparathyroidism Clinical Trials

Determination of Circulating Autotaxin in Patients With GNAS or PTH Abnormalities

GNAS-AUTAX
Start date: March 10, 2021
Phase:
Study type: Observational

PTH secretion defects (grouped under the name hypoparathyroidism) are due to abnormalities in the PTH gene, abnormalities in the development of the parathyroid glands which synthesize PTH or abnormalities of the calcium sening receptor whose role is to adapt PTH level to ambient calcium level. In contrast, primary hyperparathyroidism in children is also exceptional; expressed by hypercalcemia, with a renal and bon risk. Pseudo-hypoparathyroidism, now known under the term inactivating PTH / PTHrP Signaling Disorder or iPPSD, are rare pathologies characterized by resistance to the action of PTH sometimes associated with other symptoms, in particular chondrodysplasia. They are linked to a defect in the action of a factor in the signaling pathway of G protein-coupled receptors that activate the production of cyclic AMP (cAMP). IPPSDs are most often due to a molecular defect in the GNAS gene, subject to parental imprint. Fibrous dysplasia / McCune-Albright syndrome is a rare disease caused by somatic "gain-of-function" mutations in the GNAS gene located on chromosome 20q13 leading to activation of the protein Gαs and inappropriate production of intracellular cyclic adenosine monophosphate (cAMP). The clinical phenotype is determined by the location and extent of the tissues affected by this mutation. Autotaxin (ATX) is a protein secreted by different tissues including the liver, fatty tissue, and bone. Today, ATX is described as the major source of LPA in the bloodstream. LPA interacts with one of its receptors on the surface of the cell membrane. Depending on the receptor engaged, one or more Gα subunits (G12 / 13, GQ, Gi / o or Gs) will activate multiple cell signaling pathways. In bone, ATX is expressed by osteoclasts and osteoblasts. Recent laboratory data have shown that PTH stimulates ATX expression in osteoblasts in a dose-dependent manner. The objective of this study is to provide clinical proof of concept that the PTH / Gαs / ATX pathway is truly significant in physiology and pathology, by studying the full spectrum of PTH and GNAS pathologies. If this proof of concept is obtained, therapeutic applications will probably be possible in the long term.

NCT ID: NCT04569604 Completed - Hypoparathyroidism Clinical Trials

QoL and Cognitive Function in Patients With Hypoparathyroidism

MR-hypoPT
Start date: October 1, 2019
Phase:
Study type: Observational

Hypoparathyroidism (HypoPT) is a disease with inadequate production of parathyroid hormone (PTH) from the parathyroid glands leading to hypocalcemia. The most common form is postsurgical HypoPT due to neck surgery resulting in removed or damaged parathyroid glands. HypoPT is a complex disease with a reduced Quality of life, mild cognitive impairment and in some patients have brain calcifications. The aim of the present study is to investigate the cognitive function in patients with postsurgical and non-surgical (HypoPT) by neuropsychological assessments and magnetic resonance imaging (MRI). The investigators will apply a contrast-enhanced MRI based method to HypoPT patients and age- and gender matched controls to examine whether capillary dysfunction can be detected, and whether symptom severity across patients correlates with the degree of capillary dysfunction in certain brain regions. To our knowledge there have been no previous studies on cognitive impairment and its origin in patients with HypoPT. The investigators hypothesize that the symptoms of HypoPT patients represent various degrees of capillary dysfunction, which interfere with their brain function.

NCT ID: NCT04551170 Recruiting - Clinical trials for Pseudohypoparathyroidism

Theophylline Treatment for Pseudohypoparathyroidism - Children 2-12 Years Old

Start date: July 13, 2020
Phase: Phase 2
Study type: Interventional

Pseudohypoparathyroidism is a genetic disorder with limited treatment options, characterized by early-onset obesity, short stature and resistance to multiple hormones. This phase 2 clinical trial and open-label extension study will test the efficacy of theophylline, a phosphodiesterase inhibitor, in pseudohypoparathyroidism. We hypothesize that theophylline will cause weight loss, slow the rate of growth plate closure and decrease hormone resistance in children.

NCT ID: NCT04240821 Enrolling by invitation - Clinical trials for Pseudohypoparathyroidism

Theophylline for Treatment of Pseudohypoparathyroidism

Start date: May 22, 2020
Phase: Phase 2
Study type: Interventional

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.

NCT ID: NCT03761290 Terminated - Clinical trials for Albright Hereditary Osteodystrophy

Glucose Homeostasis in Pseudohypoparathyroidism

Start date: June 19, 2019
Phase:
Study type: Observational

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.

NCT ID: NCT03718403 Recruiting - PHP IB Clinical Trials

Effect of Theophylline in Pseudohypoparathyroidism

Start date: November 11, 2019
Phase: Phase 4
Study type: Interventional

The study evaluates the effect of theophylline in 100 subjects with Pseudohypoparathyroidism.

NCT ID: NCT03029429 Recruiting - Clinical trials for Pseudohypoparathyroidism

Theophylline Treatment for Pseudohypoparathyroidism

Start date: September 1, 2018
Phase: Phase 2
Study type: Interventional

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.

NCT ID: NCT02551120 Active, not recruiting - Clinical trials for Pseudohypoparathyroidism

Characterization of Patients With Non-surgical Hypoparathyroidism and Pseudohypoparathyroidism

Start date: June 2014
Phase:
Study type: Observational

Hypoparathyroidism (hypoPT) and pseudohypoparathyroidism (Ps-hypoPT) are rare diseases, characterized by low levels of parathyroid hormone [PTH] and plasma calcium or high plasma PTH and low plasma calcium, respectively. A recently study by the investigators' group, identified 123 living persons with idiopathic hypoPT and 62 living persons with Ps-hypoPT, only few of these have been genetic tested. The aim of the study is to perform a detailed clinical and genetic characterization of Danish patients with idiopathic hypoPT and Ps-hypoPT. Patients will be examined by questionnaires, biochemistry, scans, bone biopsies and genetic tests. Furthermore the investigators aim to perform family tracing for the hereditary forms. The prevalence of magnesium depletion will be assessed as well. In addition to providing new information on symptoms, co-morbidity, and prognosis for this group of patients, the investigators presume that the study may improve their understanding on calcium homeostasis and bone metabolism in general.