setmelanotide for ROHHAD syndrome

Inclusion criteria

• {"criterion_text":"- Patient is diagnosed with ROHHAD syndrome by a pediatric endocrinologist"}
• {"criterion_text":"- Aged 4 years and older at time of enrolment"}
• {"criterion_text":"- Ability to communicate well with the Investigator, understand and sign the written informed consent and/or assent for patients aged <18 years, a parent/legal guardian that can sign."}

Exclusion criteria

• {"criterion_text":"- Patients with hypothalamic dysfunction attributable to other conditions (eg suprasellar tumor)"}
• {"criterion_text":"- Patients with obesity attributable to other genetic or syndromic conditions (eg, PPL [POMC, PCSK1, LEPR, collectively], BBS, Prader-Wili syndrome)"}
• {"criterion_text":"- History or close family history (parents or siblings) of skin cancer or melanoma (not including noninvasive, infiltrative basal or squamous cell lesion), or patient history of ocular-cutaneous albinism."}
• {"criterion_text":"- Inability to comply with once daily (QD) injection regimen."}
• {"criterion_text":"- Pregnant and/or breastfeeding or desiring to become pregnant during this study."}

Primary endpoints

• {"endpoint_text":"- Change in overall scores for signs and symptoms of hypothalamic dysfunction after 16 weeks, 32 weeks and 52 weeks","definition_or_measurement_approach":"Measured as change in overall scores for signs and symptoms of hypothalamic dysfunction at 16, 32 and 52 weeks; specific scoring instrument or detailed measurement approach is not specified in the record."}

Secondary endpoints

• {"endpoint_text":"- BMI SDS after 16 weeks, 32 weeks and 52 weeks","definition_or_measurement_approach":"BMI SDS measured at 16, 32 and 52 weeks."}
• {"endpoint_text":"- % fat free mass after 16 weeks, 32 weeks and 52 weeks (measured by BIA)","definition_or_measurement_approach":"% fat free mass measured by bioelectrical impedance analysis (BIA) at 16, 32 and 52 weeks."}
• {"endpoint_text":"- Waist circumference after 16 weeks, 32 weeks and 52 weeks","definition_or_measurement_approach":"Waist circumference measured at 16, 32 and 52 weeks."}
• {"endpoint_text":"- Presence of liver steatosis after 16 weeks, 32 weeks and 52 weeks","definition_or_measurement_approach":"Assessment of presence of liver steatosis at 16, 32 and 52 weeks (method not specified)."}
• {"endpoint_text":"- Hyperphagia scores (Hyperphagia Questionnaire for Clinical Trials (HQ-CT) Dutch-NL) after 16 weeks, 32 weeks and 52 weeks","definition_or_measurement_approach":"Hyperphagia assessed with the Hyperphagia Questionnaire for Clinical Trials (HQ-CT) Dutch-NL at 16, 32 and 52 weeks."}
• {"endpoint_text":"- Stability of temperature (diary entries) after 16 weeks, 32 weeks and 52 weeks","definition_or_measurement_approach":"Temperature stability recorded via diary entries at 16, 32 and 52 weeks."}
• {"endpoint_text":"- Respiratory insufficiency after 16 weeks, 32 weeks and 52 weeks","definition_or_measurement_approach":"Respiratory function / insufficiency assessed at 16, 32 and 52 weeks (specific measures not detailed)."}
• {"endpoint_text":"- Circadian rhythm: Mean sleeping scores (7 days, measured by actigraphy) and PROMIS sleep disturbance scores after 16 weeks, 32 weeks and 52 weeks","definition_or_measurement_approach":"Circadian rhythm evaluated by 7-day mean sleep scores measured by actigraphy and PROMIS sleep disturbance scores at 16, 32 and 52 weeks."}
• {"endpoint_text":"- Level of activity after 16 weeks, 32 weeks and 52 weeks (actigraphy: mean steps in 7 days, PAQ-A/PAQ-C questionnaire)","definition_or_measurement_approach":"Activity measured by actigraphy (mean steps in 7 days) and PAQ-A/PAQ-C questionnaires at 16, 32 and 52 weeks."}
• {"endpoint_text":"- Resting energy expenditure (REE) (in children age >6 years) after 52 weeks","definition_or_measurement_approach":"Resting energy expenditure (REE) measured in children >6 years after 52 weeks (method not further specified)."}
• {"endpoint_text":"- Change in the other symptoms of autonomous dysregulation after 16 weeks, 32 weeks and 52 weeks as described in Tabel 2","definition_or_measurement_approach":"Change in other symptoms of autonomic dysregulation assessed at 16, 32 and 52 weeks (see protocol Table 2 for specifics; not provided in the record)."}
• {"endpoint_text":"- Quality of live (PedsQL questionnaire scores) after 16 weeks, 32 weeks and 52 weeks","definition_or_measurement_approach":"Quality of life assessed with the PedsQL questionnaire at 16, 32 and 52 weeks."}
• {"endpoint_text":"- The difference in cardiometabolic parameters including blood pressure, lipid profile, HbA1c, liver enzymes after 52 weeks","definition_or_measurement_approach":"Cardiometabolic parameters (blood pressure, lipid profile, HbA1c, liver enzymes) assessed after 52 weeks."}
• {"endpoint_text":"- Percentage of patients with adverse events such as skin hyperpigmentation, injection site reaction, nausea, headache (clinical evaluation)","definition_or_measurement_approach":"Clinical evaluation of adverse events; percentage of patients with listed events recorded."}
• {"endpoint_text":"- Any serious adverse events or other adverse events","definition_or_measurement_approach":"Recording of any serious adverse events or other adverse events during the study period."}
• {"endpoint_text":"- Change in AVP deficiency management (desmopressin dosage, need for home sodium measurements, hypo/hypernatremia) after 16 weeks, 32 weeks, 52 weeks","definition_or_measurement_approach":"Assessment of changes in AVP deficiency management (desmopressin dosing, home sodium monitoring needs, hypo/hypernatremia) at 16, 32 and 52 weeks."}

Netherlands

Earliest CTIS Part Ii Submission Date

31-01-2025

Latest Decision Or Authorization Date

06-03-2025

Processing Time Days

34

Number Of Sites

1

Number Of Participants

5

Primary sponsor

Full Name

Universitair Medisch Centrum Utrecht

Organisation Type

Hospital/Clinic/Other health care facility

Country Of Registered Address

Netherlands