Clinical trial NCT06455956: Use of miRNAs in Growth Hormone Deficiency (GHD)
Official title: New Potential Biomarkers for Diagnosis of Growth Hormone (GH) Deficiency and Early Assessment of Response to GH Treatment for Appropriate Personalization of Therapy
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Growth Hormone Deficiency
Keywords: growth hormone
miRNA
growth hormone deficiency
growth hormone treatment
small for gestational age
Turner syndrome
Noonan syndrome
SHOX deficiency
Lead sponsor: University of Parma
Sponsor class: OTHER
Collaborators: name: Azienda Ospedaliera Universitaria Policlinico "G. Martino"
name: Ospedali Riuniti Ancona
name: Federico II University
name: Azienda Unita Sanitaria Locale di Piacenza
name: Azienda Ospedaliero Universitaria Policlinico Modena
name: Azienda USL Reggio Emilia - IRCCS
name: Azienda Ospedaliero-Universitaria Consorziale Policlinico di Bari
name: Ospedali Riuniti di Foggia
name: IRCCS Ospedale San Raffaele
name: Università degli Studi del Piemonte Orientale Amedeo Avogadro
name: IRCCS Azienda Ospedaliero-Universitaria di Bologna
name: Istituto Auxologico Italiano
name: OSPEDALE CARLO POMA ASST MANTOVA
name: University of Campania Luigi Vanvitelli
name: Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico
First posted: 2024-06-13
Enrollment: 400
Sex: ALL
Minimum age (years): 2
Maximum age (years): 15
Standard ages: CHILD
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: All patients will be investigated in routine practice during the normal workup for short stature and stunted growth. Treatment will be also delivered accordind to standard care indications and as established by regulatory agencies in Italy.

Brief summary: This study aims at improving knowledge about the diagnosis of growth hormone deficiency (GHD) and treatment with growth hormone (GH), with the goal of providing information on the presence of new biomarkers, such as miRNAs, for diagnostic and therapeutic purposes, with the goal of establishing a personalized GH treatment scheme, optimizing resources, reducing costs, and improving outcomes.

Detailed description: In 200 prepubertal and pubertal subjects with the suspicion of GHD, the levels of three specific circulating miRNas will be measured to establish whether they can be used for the diagnosis of GH deficiency. In subjects with isolated idiopathic GHD (IIGHD), short statured patients born SGA, Noonan and Turner syndromes, and SHOX deficiency, we will also assess the changes of the identified miRNAs before and after 3 months on GH therapy to verify an early growth prediction model for growth response at 12 months on treatment. Finally, we plan to identify any differences in these miRNAs at 3 months on treatment using daily GH versus weekly (long-acting) GH.

Eligibility criteria: Inclusion Criteria for aim 1:

* Children with short stature and suspicion of GHD
* Subjects with organic GH deficiency

Exclusion criteria for aim 1:

-Subjects with underlying genetic conditions and chronic diseases

Inclusion Criteria for aim 2-3-5:

* patients having confirmed GHD enrolled for aim 1
* patients with growth failure and born SGA (\>4 yr of age)
* patients with Noonan and Turner syndrome and growth failure
* patients with short stature homeobox-containing gene deficiency (SHOXD) and growth failure

Inclusion Criteria for aim 4:

- Isolated idiopathic prepubertal naive GHD subjects on long-acting versus daily GH therapy

Primary outcomes:
measure: Assessing new biomarkers for the diagnosis of GHD
timeFrame: 3 years
measure: Measuring miRNA changes after 3 months on GH therapy
timeFrame: 3 years
measure: Multiple linear regression models
timeFrame: 3 years
measure: Measuring miRNA changes between daily and long-acting GH therapy
timeFrame: 3 years
Secondary outcomes:
measure: Sex-specific miRNA changes after 3 months on long-acting GH therapy
timeFrame: 3 years
Other outcomes:
Locations:
city: Parma
country: Italy
facility: University of Parma
state: Emilia Romagna
Study officials:
affiliation: University of Parma
name: Maria E Street, MD, PhD
role: PRINCIPAL_INVESTIGATOR
References: