Epidemiology Study on Insulin-like Growth Factor-1 in Children With Idiopathic Short Stature (EPIGROW Study)

Study Overview
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Brief Summary
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The purpose of the protocol is to describe the distribution of IGF-1 deficiency in the studied population of Idiopathic Short Children without Growth Hormone Deficiency or any other identified cause of short stature and not treated with recombinant Growth Hormone or IGF-1

Official Title
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Descriptive, Cross-sectional and Prospective Epidemiology Study, on the Identification of Insulin-like Growth Factor-1 Status in Idiopathic Short Stature Children (EPIGROW Study)

Conditions
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Idiopathic Short Stature

Intervention / Treatment
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* Procedure: Blood sampling
* Genetic: Genetic analysis


Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: Short children, height ≤ -2.5 SDS Age ≥ 2 years With at least one normal or elevated peak GH response to a stimulatory test (peak GH ≥ 7 ng/mL) at the time of the study and/or at a given time-point during the last 12 months Pre-pubertal Signed Informed Consent, including agreement to have blood samples taken for hormonal measurement and genetic analysis, by both parents or by Legally Acceptable Representatives when applicable and the child when applicable Exclusion Criteria: The following identified causes of short stature: GH-deficient short stature Other endocrine causes (hypothyroidism, Cushing's syndrome, parathyroid or vitamin D disorders, hypogonadism) Identified syndromes with genetic abnormalities (including Turner, Noonan and Russell-Silver syndromes) Chronic diseases including malnutrition, coeliac disease, chronic inflammation, muscular dystrophy, thalassaemia, blood disorders, severe liver or kidney disease and severe cyanotic heart disease Chronic diseases requiring treatment with chronically administered corticosteroids Skeletal dysplasia Psychosocial short stature Patients having received irradiation, including total body irradiation Patients currently on GH or IGF-1 therapy or having received GH or IGF-1 therapy in the last 12 months Patients likely to require GH, IGF-1 or chronic corticosteroid treatment during the study Any mental condition that prevents both parents or Legally Acceptable Representatives and the child when applicable from understanding the nature, scope and possible consequences of the study, or any evidence of an uncooperative attitude

Ages Eligible for Study
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Minimum Age: 2 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Arms and Interventions

| Intervention/Treatment |
| --- |
|Procedure: Blood sampling|Blood samples will be collected at visit 1 (day 1) and at visit 2 (day 14 to 45).|
|Genetic: Genetic analysis|The sample for genetic analyses may be taken at Visit 1. The blood sample volume will be 6 mL.|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Proportion of patients with a mean of the two basal IGF-1 measurements ≤-2.0 SDS, > -2.0 SDS and below 0 SDS, ≥ 0.0 SDS |  | Day 1 for the first sample; between Day 14 and Day 45 for the second sample | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Proportion of patients with height ≤ -3.0 SDS,and height > -3.0 SDS and ≤ -2.5 SDS |  | Day 1 | 
| Description of mean basal IGF-1 and IGFBP-3 levels, and basal ALS and prolactin levels in patients with height ≤ -3.0 SDS, and height > -3.0 SDS and ≤ -2.5 SDS |  | Day 1 and Day 14-45 | 
| Proportion of patients having presented at least one historical documented clinically significant episode of hypoglycaemia |  | Before the start of the study and during the study. | 
| Identification of candidate genes and/or DNA aberrations or changes potentially associated with short stature. DNA regions identified during the genome-wide scan will be further mapped at higher resolution (DNA-sequencing) |  | Day 1 |