Noonan Syndrome
Conditions
Brief summary
This is a non-interventional registry of children treated with Norditropin® for short stature due to Noonan Syndrome (NS). This study aims to provide data on long-term growth evolution and safety of Norditropin® as well as Health Related Quality of Life (HRQoL) data. This registry will include the entirety of children treated with Norditropin® for short stature due to NS over the inclusion period. The decision to initiate treatment with commercially available Norditropin® is made by the patient/parents/Legally Acceptable Representative (LAR) and the treating physician before and independently from the decision to include the patient in this study.
Interventions
DRUGNorditropin
Patients will be treated with commercially available Norditropin® according to routine clinical practice at the discretion of the treating physician.
Sponsors
Novo Nordisk A/S
Study design
Observational model
COHORT
Time perspective
OTHER
Eligibility
Sex/Gender
ALL
Healthy volunteers
No
Inclusion criteria
* Patients with a clinical and/or genetic diagnosis of NS * Patients who are treated with Norditropin® (already treated or initiating) and who are followed in a participating center * The decision to initiate treatment with commercially available Norditropin® has been made by the patient/parents/Legally Acceptable Representative (LAR) and the treating physician before and independently from the decision to include the patient in this study
Exclusion criteria
* Patients/Parents/LAR opposed to the collection and processing of their children's medical data * Mental incapacity, unwillingness or language barriers precluding adequate understanding or cooperation
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Change in height standard deviation score | From start of Norditropin® treatment (day 0) until end of follow-up (up to 6 years) | Measured in standard deviation scores (SDS) ranging from -10 to +10 |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Number of serious adverse drug reactions (SADR) | From start of Norditropin® treatment (day 0) until end of follow-up (up to 6 years) | Count of events |
| Number of serious adverse events (SAE) | From start of Norditropin® treatment (day 0) until end of follow-up (up to 6 years) | Count of events |
| Number of adverse events (AE) | From start of Norditropin® treatment (day 0) until end of follow-up (up to 6 years) | Count of events |
| Education | From start of Norditropin® treatment (day 0) until end of follow-up (up to 6 years) | Number of participants is measured under the categorical variables - standard education, education with assistance and educational measures |
| Change in oestradiol (female from 8 years old and male from 9 years old) | From start of Norditropin® treatment (day 0) until end of follow-up (up to 6 years) | Measured in pg/mL |
| School level | From start of Norditropin® treatment (day 0) until end of follow-up (up to 6 years) | Number of participants is measured under the variables - preschool, elementary school, secondary school and high school |
| Educational measures | From start of Norditropin® treatment (day 0) until end of follow-up (up to 6 years) | Number of participants is measured under the categorical variables - physiotherapy, psychomotricity, occupational therapy and speech therapy |
| Tanner stage | From start of Norditropin® treatment (day 0) until end of follow-up (up to 6 years) | Measured as units on scale. 3 sub-scales used - Pubic hair scale, Female breast development scale and Male external genitalia scale. Tanner stages range from Stage 1 to 5 with Tanner Stage 1 corresponding to the pre-pubertal form and Tanner Stage 5 corresponding to the final adult form |
| Change in pulse rate | From start of Norditropin® treatment (day 0) until end of follow-up (up to 6 years) | Measured in beats per minute |
| Change in diastolic blood pressure | From start of Norditropin® treatment (day 0) until end of follow-up (up to 6 years) | Measured in millimeters of Mercury (mm Hg) |
| Change in systolic blood pressure | From start of Norditropin® treatment (day 0) until end of follow-up (up to 6 years) | Measured in mm Hg |
| Change in corrected QT-interval (Electrocardiogram) | From start of Norditropin® treatment (day 0) until end of follow-up (up to 6 years) | Measured in millisecond (msec) |
| Change in echocardiogram parameters (mm) | From start of Norditropin® treatment (day 0) until end of follow-up (up to 6 years) | Change in Left ventricular interventricular septal maximum thickness in diastole and Left ventricular end diastolic diameter is measured in millimeter (mm) |
| Change in echocardiogram parameters (%) | From start of Norditropin® treatment (day 0) until end of follow-up (up to 6 years) | Change in Left Ventricular Fractional Shortening (LVFS) and Left Ventricular Ejection Fraction (LVEF) is measured in percentage (%) |
| Change in echocardiogram parameters (cm/s) | From start of Norditropin® treatment (day 0) until end of follow-up (up to 6 years) | Change in Diastolic function (Ea and Aa) measured in centimeters per second (cm/s) |
| Change in complete blood count (CBC) (g/dL) | From start of Norditropin® treatment (day 0) until end of follow-up (up to 6 years) | Change in Haemoglobin (Hb) measured in grams per deciLiter (g/dL) |
| Change in CBC (G/L) | From start of Norditropin® treatment (day 0) until end of follow-up (up to 6 years) | Change in white blood cells, lymphocytes, monocytes and platelets measured in grams per liter (G/L) |
| Change in Insulin-like growth factor 1 (IGF-1) level (ng/ml) | From start of Norditropin® treatment (day 0) until end of follow-up (up to 6 years) | Measured in nanograms per milliliter (ng/ml) |
| Change in IGF-1 level (SDS) | From start of Norditropin® treatment (day 0) until end of follow-up (up to 6 years) | Measured in SDS |
| Change in Haemoglobin A1c (HbA1c) level | From start of Norditropin® treatment (day 0) until end of follow-up (up to 6 years) | Measured in % |
| Change in fasting insulin level | From start of Norditropin® treatment (day 0) until end of follow-up (up to 6 years) | Measured in milligrams per deciliter (mg/dL) or milli-international units per litre (mUI/L) |
| Change in fasting blood glucose level | From start of Norditropin® treatment (day 0) until end of follow-up (up to 6 years) | Measured in mg/dL or g/L or millimoles per litre (mmol/L) |
| Change in fasting total cholesterol | From start of Norditropin® treatment (day 0) until end of follow-up (up to 6 years) | Measured in mg/dl or g/L or mmol/L |
| Change in fasting triglycerides | From start of Norditropin® treatment (day 0) until end of follow-up (up to 6 years) | Measured in mg/dL or g/L or mmol/L |
| Change in fasting high-density lipoproteins (HDL) cholesterol | From start of Norditropin® treatment (day 0) until end of follow-up (up to 6 years) | Measured in mg/dL or g/L or mmol/L |
| Change in fasting low-density lipoproteins (LDL) cholesterol | From start of Norditropin® treatment (day 0) until end of follow-up (up to 6 years) | Measured in mg/dL or g/L or mmol/L |
| Change in fasting total cholesterol/HDL ratio | From start of Norditropin® treatment (day 0) until end of follow-up (up to 6 years) | Ratio of fasting total cholesterol and HDL |
| Change in inhibin B | From start of Norditropin® treatment (day 0) until end of follow-up (up to 6 years) | Measured in picograms per milliliter (pg/mL) |
| Change in Anti-Müllerian Hormone (AMH) | From start of Norditropin® treatment (day 0) until end of follow-up (up to 6 years) | Measured in milligrams per milliliter (mg/mL) |
| Change in Luteinizing Hormone (LH) (female from 8 years old and male from 9 years old) | From start of Norditropin® treatment (day 0) until end of follow-up (up to 6 years) | Measured in mg/mL |
| Change in Follicle-Stimulating Hormone (FSH) (female from 8 years old and male from 9 years old) | From start of Norditropin® treatment (day 0) until end of follow-up (up to 6 years) | Measured in International units per litre (UI/L) or mUI/mL |
| Change in testosterone (female from 8 years old and male from 9 years old) | From start of Norditropin® treatment (day 0) until end of follow-up (up to 6 years) | Measured in ng/mL |
| Change in dose of Norditropin® treatment | From start of Norditropin® treatment (day 0) until end of follow-up (up to 6 years) | Measured in milligram per kilogram per day (mg/kg/day) |
| Frequency of injections of Norditropin® treatment per week | From start of Norditropin® treatment (day 0) until end of follow-up (up to 6 years) | Count of events |
| Number of modifications (change in dosage/ temporary stop) | From start of Norditropin® treatment (day 0) until end of follow-up (up to 6 years) | Count of events |
| Reasons for treatment modifications | From start of Norditropin® treatment (day 0) until end of follow-up (up to 6 years) | Measured in number of participants under categorical variable - safety (occurrence of ARs or AEs), growth too fast, growth too slow, patient's or parents/LAR choice; and other |
| Duration of temporary stop | From start of Norditropin® treatment (day 0) until end of follow-up (up to 6 years) | Measured in months |
| Total duration of Norditropin® treatment | From start of Norditropin® treatment (day 0) until end of follow-up (up to 6 years) | Measured in years |
| Total cumulative dose of Norditropin® treatment | From start of Norditropin® treatment (day 0) until end of follow-up (up to 6 years) | Measured in mg/kg |
| Type and number of concomitant treatments | From start of Norditropin® treatment (day 0) until end of follow-up (up to 6 years) | Count of events |
| Type and number of concomitant treatments linked to an adverse event | From start of Norditropin® treatment (day 0) until end of follow-up (up to 6 years) | Count of events |
| Change in weight | From start of Norditropin® treatment (day 0) until end of follow-up (up to 6 years) | Measured in SDS |
| Number of adverse drug reactions (ADR) | From start of Norditropin® treatment (day 0) until end of follow-up (up to 6 years) | Count of events |
| Change in bone age | From start of Norditropin® treatment (day 0) until end of follow-up (up to 6 years) | Measured in year |
| Change in height velocity (cm/year) | From start of Norditropin® treatment (day 0) until end of follow-up (up to 6 years) | Measured in cm/year |
| Change in height velocity (SDS/year) | From start of Norditropin® treatment (day 0) until end of follow-up (up to 6 years) | Measured in SDS/year |
| Type and number of NS comorbidities | From start of Norditropin® treatment (day 0) until end of follow-up (up to 6 years) | Number of participants measured under categorical variables - Cardiac defects including pulmonary valve stenosis and hypertrophic cardiomyopathy, Orthopaedic issues (pectus, scoliosis) and Anorchia in males |
| Change in Health-Related Quality of Life (HRQoL) score (PedsQL) | From start of Norditropin® treatment (day 0) until end of follow-up (up to 6 years) | PedsQL score used to assess the HRQoL, ranges from 1 to 100 (higher scores indicate better HRQoL) |
| Change in body mass index (BMI) | From start of Norditropin® treatment (day 0) until end of follow-up (up to 6 years) | Measured in kilogram per square metre (kg/m\^2) |
Countries
France
Outcome results
None listed