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Study on Setmelanotide for Improving Hypothalamic Function in Patients with ROHHAD Syndrome

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What is this trial about?

A plain-language summary of the goals, design and what participants do

This clinical trial is focused on studying a rare condition known as ROHHAD syndrome, which affects the body's ability to regulate certain functions like breathing, weight, and temperature. The study will use a treatment called setmelanotide, which is administered as a solution for injection. Setmelanotide is also known by its code names RM-493 and BIM-22493. The purpose of the study is to evaluate how setmelanotide can help improve the function of the hypothalamus, a part of the brain that plays a crucial role in these regulatory processes.

The study will involve a small group of participants who have been diagnosed with ROHHAD syndrome. Over the course of the study, participants will receive setmelanotide injections and will be monitored at different intervals: after 16 weeks, 32 weeks, and 52 weeks. The researchers will observe changes in symptoms related to hypothalamic dysfunction, such as weight and temperature regulation, as well as other health indicators like liver health and sleep patterns.

Throughout the study, various aspects of the participants' health will be assessed, including their body mass index (BMI), fat-free mass, waist circumference, and overall quality of life. The study will also track any side effects or adverse events that may occur, such as skin changes or reactions at the injection site. The goal is to gather information on how effective setmelanotide is in managing symptoms of ROHHAD syndrome and improving the quality of life for those affected by this condition.

The research process

The trial runs in 7 steps – from screening to follow-up. Each step says what happens and what the team monitors.

Step 1
Initial assessment
The trial begins with an initial assessment to confirm the diagnosis of ROHHAD syndrome by a pediatric endocrinologist.
Eligibility is determined based on age (4 years and older) and the ability to communicate effectively with the investigator.
Step 2
Informed consent
Informed consent is obtained, ensuring understanding of the trial's purpose and procedures.
For patients under 18, a parent or legal guardian must provide consent.
Step 3
Treatment initiation
The treatment involves the administration of setmelanotide, a medication given as a subcutaneous injection.
The medication is provided as IMCIVREE 10 mg/ml solution for injection.
Step 4
Treatment duration
The treatment is administered over a period of 52 weeks.
Evaluations occur at 16 weeks, 32 weeks, and 52 weeks to assess the effect on hypothalamic dysfunction.
Step 5
Evaluation of primary outcomes
The primary outcome is the change in overall scores for signs and symptoms of hypothalamic dysfunction at specified intervals.
Step 6
Evaluation of secondary outcomes
Secondary outcomes include changes in BMI, fat-free mass, waist circumference, liver health, appetite, temperature stability, respiratory function, sleep patterns, activity levels, energy expenditure, and quality of life.
Additional assessments include cardiometabolic parameters and adverse events monitoring.
Step 7
Completion of trial
The trial concludes with a final assessment at 52 weeks.
The data collected will be used to evaluate the overall impact of setmelanotide on the symptoms of ROHHAD syndrome.

Who can join the trial?

3 criteria

The patient must be diagnosed with **ROHHAD syndrome** by a pediatric endocrinologist. **ROHHAD syndrome** is a rare condition that affects the body's ability to regulate certain functions.
The patient must be **4 years old or older** at the time of joining the study.
The patient must be able to communicate well with the study doctor, understand, and sign the written informed consent. For patients under 18 years old, a parent or legal guardian must be able to sign the consent.

Who cannot join the trial?

9 criteria

Patients who do not have **ROHHAD syndrome** cannot participate. ROHHAD syndrome is a rare condition that affects the body's ability to regulate certain functions like breathing and weight.
Patients who are not within the specified age range cannot participate. The study is for certain age groups, which are not specified here.
Patients who are not willing or able to follow the study procedures cannot participate.
Patients who have other medical conditions that might interfere with the study cannot participate.
Patients who are taking medications that might affect the study results cannot participate.
Patients who are pregnant or breastfeeding cannot participate.
Patients who have participated in another clinical trial recently cannot participate.
Patients who have a history of drug or alcohol abuse cannot participate.
Patients who have a known allergy to the study medication cannot participate.

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Universitair Medisch Centrum Utrecht
Utrecht, The Netherlands

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Investigated drugs

Setmelanotide is a medication being studied for its potential to improve hypothalamic function in patients with ROHHAD syndrome. This syndrome affects the body's ability to regulate weight, breathing, and other functions controlled by the hypothalamus. The trial aims to see if setmelanotide can help manage these symptoms over a period of 16, 32, and 52 weeks.

Setmelanotide

What is already known about the treatment

Setmelanotide – Setmelanotide is administered as an injection under the skin. It is currently being studied in clinical trials for its potential to improve hypothalamic function in patients with ROHHAD syndrome, a rare disorder. The main therapeutic indication for setmelanotide in this context is to address hypothalamic dysfunction associated with the syndrome. At the molecular level, setmelanotide works by activating the melanocortin-4 receptor, which plays a role in regulating appetite and energy balance. It is classified as a melanocortin receptor agonist.

Investigated diseases

ROHHAD syndrome – ROHHAD syndrome is a rare disorder that affects the autonomic nervous system and the endocrine system. It typically begins in early childhood and is characterized by rapid-onset obesity, hypothalamic dysfunction, and hypoventilation. Children with this syndrome may experience a sudden and significant increase in weight, along with difficulties in regulating body temperature, heart rate, and breathing. The condition can also lead to hormonal imbalances, affecting growth and development. As the syndrome progresses, individuals may develop sleep disturbances and other autonomic dysregulation symptoms. The exact cause of ROHHAD syndrome is not well understood, and it is considered a rare disease.