Ignite Creation Date:
2024-10-26 @ 3:43 PM
Last Modification Date:
2024-10-26 @ 3:43 PM
Study NCT ID:
NCT06645899
Status:
NOT_YET_RECRUITING
Last Update Posted:
None
First Post:
2024-10-07
Brief Title:
Institution of an Italian Multicenter Database of Patients Affected by Hypoparathyroidism or Pseudohypoparathyroidism
Sponsor:
None
Organization:
None
Study Overview
Official Title:
Creation Management and Analysis of a National Database of Patients Affected by Hypoparathyroidism or Pseudohypoparathyroidism
Status:
NOT_YET_RECRUITING
Status Verified Date:
2024-10
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
No
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
Brief Summary:
The goal of this observational study is to create manage and analyze a multicenter national database of patients affected by hypoparathyroidism or pseudohypoparathyroidism aimed at collecting and studying anamnestic diagnostic genetic clinical and therapeutic data in a relatively wide number of patients with these two rare pathologies in Italy
The study will include 41 specialist clinical centers of endocrinology pediatric endocrinology pediatrics and endocrine surgery located throughout the Italian territory and to which patients refer from all the 20 regions of Italy
Data will be collected over time both in retrospective and prospective manners during the 10-year duration of the study starting from the recruiting visit basal visit and then during each follow-up visits patients will undergo for the control of disease at the recruiting clinical centers
Collected data will include both the most classic traits of the pathology and the less common ones with the final goal of refining and deepening medical knowledge in the field of these two clinical conditions affecting parathyroid function and calcium homeostasis and thus to be able to define optimal clinical and therapeutic management of patients improving their quality of life
The main aspects this observational study aims to assess and clarify are
1 Evaluation of prevalence and incidence of hypoparathyroidism globally and in its different etiological forms and of pseudohypoparathyroidism in Italy
2 Clinical characterization of different etiological forms of hypoparathyroidism through both cross-sectional and longitudinal analyses of collected data
3 Clinical characterization of pseudohypoparathyroidism through both cross-sectional and longitudinal analyses of collected data
4 Over time collection of data on bone status and bone fragility in patients with hypoparathyroidism and pseudohypoparathyroidism to evaluate the prevalence and incidence of fragility fractures in these patients globally and also based on gender age and disease etiology
5 Over time evaluation of response to pharmacological therapies in patients with hypoparathyroidism and pseudohypoparathyroidism The study will include two independent cohorts of female and male patients of any age one including patients with chronic hypoparathyroidism of each etiological forms cohort 1 and one including patients with pseudohypoparathyroidism cohort 2 The study does not include either any control groupcomparison group or healthy volunteers
The study itself does not involve any medical intervention or drug administration Pharmacological treatments for which data on response to therapy will be collected in the database are those administered to patients for the controltreatment of hypoparathyroidism or pseudohypoparathyroidism regardless of their inclusion in this observational study
The study will include 41 specialist clinical centers of endocrinology pediatric endocrinology pediatrics and endocrine surgery located throughout the Italian territory and to which patients refer from all the 20 regions of Italy
Data will be collected over time both in retrospective and prospective manners during the 10-year duration of the study starting from the recruiting visit basal visit and then during each follow-up visits patients will undergo for the control of disease at the recruiting clinical centers
Collected data will include both the most classic traits of the pathology and the less common ones with the final goal of refining and deepening medical knowledge in the field of these two clinical conditions affecting parathyroid function and calcium homeostasis and thus to be able to define optimal clinical and therapeutic management of patients improving their quality of life
The main aspects this observational study aims to assess and clarify are
1 Evaluation of prevalence and incidence of hypoparathyroidism globally and in its different etiological forms and of pseudohypoparathyroidism in Italy
2 Clinical characterization of different etiological forms of hypoparathyroidism through both cross-sectional and longitudinal analyses of collected data
3 Clinical characterization of pseudohypoparathyroidism through both cross-sectional and longitudinal analyses of collected data
4 Over time collection of data on bone status and bone fragility in patients with hypoparathyroidism and pseudohypoparathyroidism to evaluate the prevalence and incidence of fragility fractures in these patients globally and also based on gender age and disease etiology
5 Over time evaluation of response to pharmacological therapies in patients with hypoparathyroidism and pseudohypoparathyroidism The study will include two independent cohorts of female and male patients of any age one including patients with chronic hypoparathyroidism of each etiological forms cohort 1 and one including patients with pseudohypoparathyroidism cohort 2 The study does not include either any control groupcomparison group or healthy volunteers
The study itself does not involve any medical intervention or drug administration Pharmacological treatments for which data on response to therapy will be collected in the database are those administered to patients for the controltreatment of hypoparathyroidism or pseudohypoparathyroidism regardless of their inclusion in this observational study
Detailed Description:
A Background and rationale
Hypoparathyroidism is a rare endocrine disease characterized by low levels of calcium hypocalcemia and high levels of phosphorus hyperphosphatemia in the blood as a result of inappropriately low or completely absent levels of parathyroid hormone PTH Data on the global epidemiology of this disease are still incomplete it is estimated to affect less than 1 case in 200000 people Even more incomplete are the national incidence data
Hypoparathyroidism can be acquired or congenital The most common form of hypoparathyroidism is post-surgical about 75 of cases following surgery in the neck region with damage andor removal of the parathyroid glands Among other forms of acquired hypoparathyroidism there are in a much lower percentage those caused by irradiation of the neck viral infections with infiltration of the parathyroid tissue ie tuberculosis metastatic infiltrations autoimmune diseases chronic magnesium depletion malabsorption alcoholism or malnutrition
Congenital hypoparathyroidism can be caused by germline mutations in various genes which regulate the correct development andor functionality of the parathyroid glands and synthesis and release of PTH and can arise as an isolated or syndromic form the latter in association with other endocrine and non-endocrine alterations
The term pseudohypoparathyroidism on the other hand refers to a heterogeneous group of hereditary diseases characterized by resistance to PTH in target organs proximal tubules of the kidney which causes hypocalcemia and hyperphosphatemia in the presence of normal and even elevated PTH levels
The real global and Italian prevalence and incidence of hypoparathyroidism and pseudohypoparathyroidism is not certain the lack of specific national and international registries for this pathology remains a major limitation to its in-depth clinical understanding and to the optimization of the therapeutic management of patients
Implementing and detailing as much as possible the epidemiological clinical and therapeutic history of hypoparathyroidism in its various etiological forms and pseudohypoparathyroidism means not only improving the clinical management of the individual patient but also allowing for better planning of social political and health interventions for these pathologies and overall improving the quality and life expectancy of patients
For this reason it is extremely important to create multicenter national databases such as the one proposed by this study which allow to collect a relatively high number of patients affected by hypoparathyroidism or pseudohypoparathyroidism whose cases can be thus carefully studied in every aspect both retrospectively and prospectively
A previous Italian database HypoparaNET 1 was established in the period March 2014-September 2015 collecting 509 cases of chronic hypoparathyroidism from 16 Italian Endocrinological Clinical Centers However this database collected patients data limited exclusively to the time of inclusion in the study not including the collection of follow-up data and thus allowing only an epidemiological evaluation and a cross-sectional observational analysis of the data collected at the time of inclusion in the study
Instead in the present study the investigators aim to collect data on hypoparathyroidism and pseudohypoparathyroidism cases over time allowing not only to analyze epidemiological data and to perform a single shot analysis of collected data but also to be able to perform longitudinal analyses of the two diseases with particular attention to the response to therapies
B Main aim and specific objectives
Main goal of this observational study is to create manage and analyze a retro-prospective multicenter national database of patients with hypoparathyroidism or pseudohypoparathyroidism in Italy aimed at collecting and studying anamnestic diagnostic genetic clinical and therapeutic data on these two endocrine diseases in a relatively wide number of patients
Such a database will allow for an epidemiological evaluation of prevalence and incidence hypoparathyroidism or pseudohypoparathyroidism in Italy and to collect case history of patients whose clinical cases will be studied in detail and followed over time up to 10 years after the recruitment in the study in order to refine knowledge in the field of these two rare endocrine diseases
Specific objectives of the studies are
1 Creation of an Italian centralized multicenter database of patients with hypoparathyroidism or pseudohypoparathyroidism through the collection of patients at 41 specialist clinical centers of endocrinology pediatric endocrinology pediatrics and endocrine surgery located throughout the Italian territory and visiting patients from all the 20 regions of Italy
2 Collection of a relatively high number of patients with hypoparathyroidism of different etiology or with pseudohypoparathyroidism
3 Retrospective collection of data about hypoparathyroidism or pseudohypoparathyroidism at the time of the recruiting visit
4 Continuous and updated prospective collection of patients data over time starting from the first recruiting visit up to 10 years after the recruitment in the study
5 Evaluation of prevalence and incidence of hypoparathyroidism globally and in its different etiological forms and of pseudohypoparathyroidism in Italy
6 Clinical characterization of different etiological forms of hypoparathyroidism through both cross-sectional and longitudinal analyses of collected data
7 Clinical characterization of pseudohypoparathyroidism through both cross-sectional and longitudinal analyses of collected data
8 Over time collection of data on bone status and bone fragility in patients with hypoparathyroidism and pseudohypoparathyroidism to evaluate the prevalence and incidence of fragility fractures in these patients also based on gender age and disease etiology
9 Over time evaluation of response to pharmacological therapies in patients with hypoparathyroidism and pseudohypoparathyroidism
C Study population
The study will include two independent cohorts of female and male patients of any age one including patients with chronic hypoparathyroidism cohort 1 and one including patients with pseudohypoparathyroidism cohort 2
The study does not include either any control groupcomparison group or healthy volunteers
Based on the previous experience with the HypoparaNET database the investigators can estimate to be able to include in the study at least 600 patients affected by hypoparathyroidism or pseudohypoparathyroidism during the 10 years of the study
Inclusion criteria
Cohort 1 chronic hypoparathyroidism all etiological forms
Cohort 2 pseudohypoparathyroidism Exclusion criteria
None
D Study design and setting
Non-profit multicenter national retro-prospective observational study consisting in the design creation management and analysis of an Italian database of patients with hypoparathyroidism or pseudohypoparathyroidism
The study will last 10 years The enrollment of patients with hypoparathyroidism or pseudohypoparathyroidism the inclusion in the database with retrospective collection of their clinical data and the subsequent prospective collection of clinical follow-up data will take place throughout the duration of the study For the retrospective collection retrospective data on hypoparathyroidism or pseudohypoparathyroidism will be retrieved from patients medical records at the time of the medical visit that the patient will carry out at the Clinical Center for the evaluation of hisher disease regardless of inclusion in this study Prospective data relating to hypoparathyroidism or pseudohypoparathyroidism follow-up will be collected during the subsequent medical follow-up visits scheduled for each patient as part of the clinical management of hisher clinical condition regardless of inclusion in this study
Being an observational study this study itself does not involve the administration of any drug nor the use of any medical device nor does it involve additional medical visits clinical analyses or care procedures in addition to those conventionally scheduled for the clinical and therapeutic management of patient affected by hypoparathyroidism or pseudohypoparathyroidism No participant biospecimens of any type will be collected and retained to perform this study Pharmacological treatments for which data on response to therapy will be collected in the database are those usually administered to patients for the controltreatment of hypoparathyroidism or pseudohypoparathyroidism regardless of their inclusion in this observational study
All data will be collected anonymously and they will be analyzed as aggregates Data collected in the database will be first processed using descriptive statistics such as frequency tables for categorical data median and quartiles for quantitative data on ordinal scales and mean and standard deviation for quantitative data on metric scales Secondly the correlations between variables will be evaluated using the Pearson correlation index in the case of continuous variables and the chi-square test for categorical variables
E Data and variables
Data collected in the database will include if available in patients medical records and part of the normal clinical and therapeutic management of patient regardless of inclusion in this study
Demographics sex year of birth
Family history of chronic hypoparathyroidism or pseudohypoparathyroidism in first-degree relatives only for patients with a congenital form of the disease
History of neck irradiation viral infections with infiltration of the parathyroid tissue ie tuberculosis metastatic infiltrations autoimmune diseases chronic magnesium depletion and neck surgery as possible cause of chronic hypoparathyroidism
Presence of comorbidities
Age at diagnosisonset of hypoparathyroidism or pseudohypoparathyroidism
Genetic testing for congenital forms of hypoparathyroidism or pseudohypoparathyroidism if performed
Clinical manifestations of the diseases ie paresthesia cramps tetany chondrocalcinosis nephrocalcinosis nephrolithiasis chronic renal failure ectopic calcifications neurocognitive and brain disorders ocular manifestations
DXA andor pQCTHR-pQCT evaluation of bone status
History of fragility fractures
Biochemical measurements of parameters of parathyroid function bone and mineral metabolism and renal function at baseline and follow-up visits
Pharmacological therapies drug duration posology
Self-evaluation of quality of life ie Questionnaire SF36
Disease-related morbidity and mortality
Hypoparathyroidism is a rare endocrine disease characterized by low levels of calcium hypocalcemia and high levels of phosphorus hyperphosphatemia in the blood as a result of inappropriately low or completely absent levels of parathyroid hormone PTH Data on the global epidemiology of this disease are still incomplete it is estimated to affect less than 1 case in 200000 people Even more incomplete are the national incidence data
Hypoparathyroidism can be acquired or congenital The most common form of hypoparathyroidism is post-surgical about 75 of cases following surgery in the neck region with damage andor removal of the parathyroid glands Among other forms of acquired hypoparathyroidism there are in a much lower percentage those caused by irradiation of the neck viral infections with infiltration of the parathyroid tissue ie tuberculosis metastatic infiltrations autoimmune diseases chronic magnesium depletion malabsorption alcoholism or malnutrition
Congenital hypoparathyroidism can be caused by germline mutations in various genes which regulate the correct development andor functionality of the parathyroid glands and synthesis and release of PTH and can arise as an isolated or syndromic form the latter in association with other endocrine and non-endocrine alterations
The term pseudohypoparathyroidism on the other hand refers to a heterogeneous group of hereditary diseases characterized by resistance to PTH in target organs proximal tubules of the kidney which causes hypocalcemia and hyperphosphatemia in the presence of normal and even elevated PTH levels
The real global and Italian prevalence and incidence of hypoparathyroidism and pseudohypoparathyroidism is not certain the lack of specific national and international registries for this pathology remains a major limitation to its in-depth clinical understanding and to the optimization of the therapeutic management of patients
Implementing and detailing as much as possible the epidemiological clinical and therapeutic history of hypoparathyroidism in its various etiological forms and pseudohypoparathyroidism means not only improving the clinical management of the individual patient but also allowing for better planning of social political and health interventions for these pathologies and overall improving the quality and life expectancy of patients
For this reason it is extremely important to create multicenter national databases such as the one proposed by this study which allow to collect a relatively high number of patients affected by hypoparathyroidism or pseudohypoparathyroidism whose cases can be thus carefully studied in every aspect both retrospectively and prospectively
A previous Italian database HypoparaNET 1 was established in the period March 2014-September 2015 collecting 509 cases of chronic hypoparathyroidism from 16 Italian Endocrinological Clinical Centers However this database collected patients data limited exclusively to the time of inclusion in the study not including the collection of follow-up data and thus allowing only an epidemiological evaluation and a cross-sectional observational analysis of the data collected at the time of inclusion in the study
Instead in the present study the investigators aim to collect data on hypoparathyroidism and pseudohypoparathyroidism cases over time allowing not only to analyze epidemiological data and to perform a single shot analysis of collected data but also to be able to perform longitudinal analyses of the two diseases with particular attention to the response to therapies
B Main aim and specific objectives
Main goal of this observational study is to create manage and analyze a retro-prospective multicenter national database of patients with hypoparathyroidism or pseudohypoparathyroidism in Italy aimed at collecting and studying anamnestic diagnostic genetic clinical and therapeutic data on these two endocrine diseases in a relatively wide number of patients
Such a database will allow for an epidemiological evaluation of prevalence and incidence hypoparathyroidism or pseudohypoparathyroidism in Italy and to collect case history of patients whose clinical cases will be studied in detail and followed over time up to 10 years after the recruitment in the study in order to refine knowledge in the field of these two rare endocrine diseases
Specific objectives of the studies are
1 Creation of an Italian centralized multicenter database of patients with hypoparathyroidism or pseudohypoparathyroidism through the collection of patients at 41 specialist clinical centers of endocrinology pediatric endocrinology pediatrics and endocrine surgery located throughout the Italian territory and visiting patients from all the 20 regions of Italy
2 Collection of a relatively high number of patients with hypoparathyroidism of different etiology or with pseudohypoparathyroidism
3 Retrospective collection of data about hypoparathyroidism or pseudohypoparathyroidism at the time of the recruiting visit
4 Continuous and updated prospective collection of patients data over time starting from the first recruiting visit up to 10 years after the recruitment in the study
5 Evaluation of prevalence and incidence of hypoparathyroidism globally and in its different etiological forms and of pseudohypoparathyroidism in Italy
6 Clinical characterization of different etiological forms of hypoparathyroidism through both cross-sectional and longitudinal analyses of collected data
7 Clinical characterization of pseudohypoparathyroidism through both cross-sectional and longitudinal analyses of collected data
8 Over time collection of data on bone status and bone fragility in patients with hypoparathyroidism and pseudohypoparathyroidism to evaluate the prevalence and incidence of fragility fractures in these patients also based on gender age and disease etiology
9 Over time evaluation of response to pharmacological therapies in patients with hypoparathyroidism and pseudohypoparathyroidism
C Study population
The study will include two independent cohorts of female and male patients of any age one including patients with chronic hypoparathyroidism cohort 1 and one including patients with pseudohypoparathyroidism cohort 2
The study does not include either any control groupcomparison group or healthy volunteers
Based on the previous experience with the HypoparaNET database the investigators can estimate to be able to include in the study at least 600 patients affected by hypoparathyroidism or pseudohypoparathyroidism during the 10 years of the study
Inclusion criteria
Cohort 1 chronic hypoparathyroidism all etiological forms
Cohort 2 pseudohypoparathyroidism Exclusion criteria
None
D Study design and setting
Non-profit multicenter national retro-prospective observational study consisting in the design creation management and analysis of an Italian database of patients with hypoparathyroidism or pseudohypoparathyroidism
The study will last 10 years The enrollment of patients with hypoparathyroidism or pseudohypoparathyroidism the inclusion in the database with retrospective collection of their clinical data and the subsequent prospective collection of clinical follow-up data will take place throughout the duration of the study For the retrospective collection retrospective data on hypoparathyroidism or pseudohypoparathyroidism will be retrieved from patients medical records at the time of the medical visit that the patient will carry out at the Clinical Center for the evaluation of hisher disease regardless of inclusion in this study Prospective data relating to hypoparathyroidism or pseudohypoparathyroidism follow-up will be collected during the subsequent medical follow-up visits scheduled for each patient as part of the clinical management of hisher clinical condition regardless of inclusion in this study
Being an observational study this study itself does not involve the administration of any drug nor the use of any medical device nor does it involve additional medical visits clinical analyses or care procedures in addition to those conventionally scheduled for the clinical and therapeutic management of patient affected by hypoparathyroidism or pseudohypoparathyroidism No participant biospecimens of any type will be collected and retained to perform this study Pharmacological treatments for which data on response to therapy will be collected in the database are those usually administered to patients for the controltreatment of hypoparathyroidism or pseudohypoparathyroidism regardless of their inclusion in this observational study
All data will be collected anonymously and they will be analyzed as aggregates Data collected in the database will be first processed using descriptive statistics such as frequency tables for categorical data median and quartiles for quantitative data on ordinal scales and mean and standard deviation for quantitative data on metric scales Secondly the correlations between variables will be evaluated using the Pearson correlation index in the case of continuous variables and the chi-square test for categorical variables
E Data and variables
Data collected in the database will include if available in patients medical records and part of the normal clinical and therapeutic management of patient regardless of inclusion in this study
Demographics sex year of birth
Family history of chronic hypoparathyroidism or pseudohypoparathyroidism in first-degree relatives only for patients with a congenital form of the disease
History of neck irradiation viral infections with infiltration of the parathyroid tissue ie tuberculosis metastatic infiltrations autoimmune diseases chronic magnesium depletion and neck surgery as possible cause of chronic hypoparathyroidism
Presence of comorbidities
Age at diagnosisonset of hypoparathyroidism or pseudohypoparathyroidism
Genetic testing for congenital forms of hypoparathyroidism or pseudohypoparathyroidism if performed
Clinical manifestations of the diseases ie paresthesia cramps tetany chondrocalcinosis nephrocalcinosis nephrolithiasis chronic renal failure ectopic calcifications neurocognitive and brain disorders ocular manifestations
DXA andor pQCTHR-pQCT evaluation of bone status
History of fragility fractures
Biochemical measurements of parameters of parathyroid function bone and mineral metabolism and renal function at baseline and follow-up visits
Pharmacological therapies drug duration posology
Self-evaluation of quality of life ie Questionnaire SF36
Disease-related morbidity and mortality
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
None
Is a FDA Regulated Device?:
None
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None