NCT06645899

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. 1.Evaluation of prevalence and incidence of hypoparathyroidism, globally and in its different etiological forms, and of pseudohypoparathyroidism in Italy.
  2. 2.Clinical characterization of different etiological forms of hypoparathyroidism, through both cross-sectional and longitudinal analyses of collected data.
  3. 3.Clinical characterization of pseudohypoparathyroidism, through both cross-sectional and longitudinal analyses of collected data.
  4. 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. 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 group/comparison group or healthy volunteers.

Trial Health

77
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
600

participants targeted

Target at P75+ for all trials

Timeline
104mo left

Started Nov 2024

Longer than P75 for all trials

Geographic Reach
1 country

41 active sites

Status
recruiting

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Progress15%
Nov 2024Nov 2034

First Submitted

Initial submission to the registry

October 7, 2024

Completed
10 days until next milestone

First Posted

Study publicly available on registry

October 17, 2024

Completed
18 days until next milestone

Study Start

First participant enrolled

November 4, 2024

Completed
10 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

November 4, 2034

Expected
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

November 4, 2034

Last Updated

January 23, 2025

Status Verified

October 1, 2024

Enrollment Period

10 years

First QC Date

October 7, 2024

Last Update Submit

January 21, 2025

Conditions

Keywords

HypoparathyroidismPseudohypoparathyroidismDatabase of patientsRetro-prospective clinical data collection

Outcome Measures

Primary Outcomes (5)

  • Prevalence and incidence evaluation

    Evaluation of prevalence and incidence of hypoparathyroidism globally and in its different etiological forms, and of pseudohypoparathyroidism in Italy

    Through study completion, an average of 10 years

  • Clinical characterization of hypoparathyroidism

    Clinical characterization of different etiological forms of hypoparathyroidism, through both cross-sectional and longitudinal analyses of collected data

    Through study completion, an average of 10 years

  • Clinical characterization of pseudohypoparathyroidism

    Clinical characterization of pseudohypoparathyroidism, through both cross-sectional and longitudinal analyses of collected data

    Through study completion, an average of 10 years

  • Bone fragility in patients with hypoparathyroidism and pseudohypoparathyroidism

    Evaluation of over time prevalence and incidence of fragility fractures in patients with hypoparathyroidism and pseudohypoparathyroidism, globally and also based on gender, age, and disease etiology

    Through study completion, an average of 10 years

  • Therapy response in patients with hypoparathyroidism and pseudohypoparathyroidism

    Over time analysis of responses to pharmacological therapies in in patients with hypoparathyroidism and pseudohypoparathyroidism

    Through study completion, an average of 10 years

Study Arms (2)

Patients with hypoparathyroidism

Male and female patients of any age who are affected by chronic hypoparathyroidism. The observation study does not include any type of intervention.

Patients with pseudohypoparathyroidism

Male and female patients of any age who are affected by pseudohypoparathyroidism. The observation study does not include any type of intervention.

Eligibility Criteria

Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodNon-Probability Sample
Study Population

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).

You may qualify if:

  • Cohort 1: chronic hypoparathyroidism (all etiological forms)
  • Cohort 2: pseudohypoparathyroidism

You may not qualify if:

  • None

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (41)

SC Pediatria e Pronto Soccorso Pediatrico - AOU SS. Antonio e Biagio e C. Arrigo

Alessandria, Italy

NOT YET RECRUITING

U.O.C. Endocrinologia, Azienda Ospedaliero Universitaria Policlinico Consorziale, Università degli Studi di Bari "Aldo Moro"

Bari, Italy

NOT YET RECRUITING

Unità di Pediatria, IRCCS Azienda Ospedaliero-Universitaria di Bologna

Bologna, Italy

NOT YET RECRUITING

UOC Endocrinologia e Prevenzione e Cura del Diabete, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Dipartimento di Scienze Mediche e Chirurgiche (DIMEC), Alma Mater Studiorum Università di Bologna

Bologna, Italy

NOT YET RECRUITING

Centro di Auxoendocrinologia e Genetica Medica della Clinica Pediatrica degli Spedali Civili di Brescia

Brescia, Italy

NOT YET RECRUITING

Endocrinologia e Diabetologia, Azienda Ospedaliero-Universitaria di Cagliari, Presidio Ospedaliero Policlinico di Monserrato

Cagliari, Italy

NOT YET RECRUITING

UO Endocrinologia e Malattie del Ricambio, Azienda Ospedaliero Universitaria di Ferrara, Sezione di Endocrinologia, Geriatria e Medicina Interna, Dipartimento di Scienze Mediche, Università degli Studi di Ferrara

Ferrara, Italy

RECRUITING

Diabetologia e Endocrinologia, Auxoendocrinologia, Children's Hospital Meyer IRCCS

Florence, Italy

NOT YET RECRUITING

SOD Malattie del Metabolismo Minerale ed Osseo, Azienda Ospedaliero-Universitaria Careggi

Florence, Italy

RECRUITING

Ospedale Casa Sollievo della Sofferenza

Foggia, Italy

NOT YET RECRUITING

Centro di Alta Specialità in Osteoporosi Pediatrica e Malattie del Metabolismo Calcio-Fosforo, U.O.C. Clinica Pediatrica, Dipartimento di Scienze Pediatriche Generali e Specialistiche IRCCS Istituto Giannina Gaslini

Genova, Italy

NOT YET RECRUITING

Clinica Endocrinologica, Dipartimento di Medicina Interna e Specialità Mediche (DiMI), IRCCS Ospedale Policlinico San Martino, Università di Genova

Genova, Italy

NOT YET RECRUITING

U.O.S.D. Centro Malattie Rare · Dipartimento di Pediatria IRCCS Ospedale Pediatrico Giannina Gaslini

Genova, Italy

NOT YET RECRUITING

Dipartimento di Patologia Umana dell'adulto e dell'età evolutiva "Gaetano Barresi", Università degli Studi di Messina

Messina, Italy

NOT YET RECRUITING

UOC di Endocrinologia, AOU Policlinico G. Martino, Dipartimento di Patologia Umana DETEV, Università di Messina

Messina, Italy

NOT YET RECRUITING

Dipartimento di Malattie Endocrino-Metaboliche, IRCCS Istituto Auxologico Italiano

Milan, Italy

NOT YET RECRUITING

Endocrinologia Infantile, UOU di Pediatria, IRCCS Ospedale San Raffaele

Milan, Italy

NOT YET RECRUITING

IRCCS Ospedale San Raffaele

Milan, Italy

NOT YET RECRUITING

SC Endocrinologia, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico

Milan, Italy

NOT YET RECRUITING

Dipartimento di Medicina Clinica e Chirurgia; Unità di Endocrinologia, Diabetologia e Andrologia; Università degli Studi di Napoli Federico II

Napoli, Italy

NOT YET RECRUITING

UOC di Endocrinologia e Malattie del Metabolismo, AOU Università degli Studi della Campania Luigi Vanvitelli

Napoli, Italy

NOT YET RECRUITING

UOS di Endocrinologia Pediatrica, Dipartimento Materno Infantile, AOU Federico II

Napoli, Italy

NOT YET RECRUITING

UOSD Malattie Neuro-Endocrine, Centro Obesità, Dipartimento di Neuroscienze e Riabilitazione, AORN Santobono-Pausilipon

Napoli, Italy

NOT YET RECRUITING

SCDU Endocrinologia Azienda Ospedaliero-Universitaria Maggiore della Carità di Novara

Novara, Italy

NOT YET RECRUITING

Endocrinologia, Clinica Polispecialistica San Carlo

Paderno Dugnano, Italy

NOT YET RECRUITING

Unità di Chirurgia Endocrina, Dipartimento di Chirurgia, Oncologia e Gastroenterologia, Università di Padova

Padua, Italy

NOT YET RECRUITING

UOC Endocrinologia, DIMED, Azienda Ospedaliero-Universitaria di Padova

Padua, Italy

NOT YET RECRUITING

Unità Operativa Endocrinologia 2, Azienda Ospedaliera Universitaria Pisana

Pisa, Italy

NOT YET RECRUITING

Dipartimento di Medicina Sperimentale, "Sapienza" Università di Roma, Roma - UOC Endocrinologia, Policlinico Umberto I di Roma

Roma, Italy

NOT YET RECRUITING

Unità di Endocrinologia e Andrologia, Dipartimento di Medicina Clinica e Molecolare, AOU Sant'Andrea, Centro di eccellenza ENETS, Università Sapienza di Roma

Roma, Italy

NOT YET RECRUITING

UOC di Endocrinologia e Diabetologia, UOS di Endocrinologia Pediatrica, IRCCS Ospedale Pediatrico Bambino Gesù

Roma, Italy

NOT YET RECRUITING

UOC Patologie osteo-metaboliche e della tiroide, Fondazione Policlinico universitario Campus Bio-Medico

Roma, Italy

NOT YET RECRUITING

UOC di Endocrinologia, Diabetologia e Andrologia Medica, IRCCS Humanitas Research Hospital

Rozzano, Italy

NOT YET RECRUITING

Donatello Bone Clinic, Casa di Cura Villa Donatello

Sesto Fiorentino, Italy

RECRUITING

Dipartimento di Scienze Mediche, Chirurgiche e Neuroscienze, Policlinico Santa Maria delle Scotte, Università di Siena

Siena, Italy

NOT YET RECRUITING

Endocrinologia Pediatrica Ospedale Infantile regina Margherita-Dipartimento di Scienze di Sanità Pubblica e Pediatriche, Università degli studi di Torino

Torino, Italy

NOT YET RECRUITING

SCDU Endocrinologia Diabetologia e Malattie del Metabolismo, AOU Città della Salute e della Scienza di Torino, Università di Torino

Torino, Italy

NOT YET RECRUITING

SCDU Endocrinologia Oncologica, AOU Città della Salute e della Scienza di Torino, Università di Torino

Torino, Italy

NOT YET RECRUITING

IRCCS Materno-Infantile Burlo Garofolo

Trieste, Italy

RECRUITING

SOC Endocrinologia, Azienda Sanitaria-Universitaria Friuli Centrale

Udine, Italy

NOT YET RECRUITING

UOS di Endocrinologia, Policlinico GB Rossi, Azienda Ospedaliera Universitaria Integrata di Verona

Verona, Italy

NOT YET RECRUITING

MeSH Terms

Conditions

HypoparathyroidismPseudohypoparathyroidism

Condition Hierarchy (Ancestors)

Parathyroid DiseasesEndocrine System DiseasesBone Diseases, MetabolicBone DiseasesMusculoskeletal DiseasesMetal Metabolism, Inborn ErrorsMetabolism, Inborn ErrorsGenetic Diseases, InbornCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesMetabolic DiseasesNutritional and Metabolic DiseasesCalcium Metabolism Disorders

Central Study Contacts

Maria Luisa Brandi, MD, PhD

CONTACT

Study Design

Study Type
observational
Observational Model
COHORT
Time Perspective
OTHER
Target Duration
10 Years
Sponsor Type
OTHER
Responsible Party
SPONSOR

Study Record Dates

First Submitted

October 7, 2024

First Posted

October 17, 2024

Study Start

November 4, 2024

Primary Completion (Estimated)

November 4, 2034

Study Completion (Estimated)

November 4, 2034

Last Updated

January 23, 2025

Record last verified: 2024-10

Locations