In short
Currently, there is one ongoing clinical trial investigating treatment options for ROHHAD syndrome, a rare disorder affecting the autonomic nervous system and endocrine system. This trial is evaluating setmelanotide, a medication administered as an injection, to improve hypothalamic function in patients with this condition. The study is being conducted in the Netherlands and involves monitoring participants over 52 weeks to assess improvements in symptoms such as weight regulation, breathing, temperature control, and overall quality of life.
Clinical trial locations
- Netherlands
Study on Setmelanotide for Improving Hypothalamic Function in Patients with ROHHAD Syndrome
This clinical trial is investigating setmelanotide, a medication given as an injection under the skin, for patients with ROHHAD syndrome. The syndrome is a rare disorder that typically begins in early childhood and affects the body's ability to regulate important functions such as breathing, weight, temperature, and hormonal balance. The hypothalamus, a critical part of the brain responsible for these regulatory processes, does not function properly in people with this condition.
Main inclusion criteria:
- The patient must have a confirmed diagnosis of ROHHAD syndrome by a pediatric endocrinologist
- The patient must be at least 4 years old
- The patient (or parent/legal guardian for those under 18) must be able to understand the study procedures and provide informed consent
- The patient must be able to communicate effectively with the study doctor
Main exclusion criteria:
- Patients without a confirmed diagnosis of ROHHAD syndrome
- Patients who are unwilling or unable to follow the study procedures
- Patients with other medical conditions that might interfere with the study results
- Patients taking medications that could affect the study outcomes
- Patients who are pregnant or breastfeeding
- Patients who have recently participated in another clinical trial
- Patients with a history of drug or alcohol abuse
- Patients with a known allergy to setmelanotide or any component of the study medication
Focus and goal of the trial:
The main purpose of this study is to evaluate how effective setmelanotide is in improving hypothalamic function in patients with ROHHAD syndrome. Participants will receive setmelanotide injections over a period of 52 weeks, with assessments conducted at 16 weeks, 32 weeks, and 52 weeks. The researchers will closely monitor changes in symptoms related to hypothalamic dysfunction, including:
- Body weight and body mass index (BMI)
- Temperature regulation and stability
- Breathing patterns and respiratory function
- Fat-free mass and waist circumference
- Liver health
- Appetite control
- Sleep patterns and quality
- Activity levels and energy expenditure
- Overall quality of life
The study will also track any side effects or adverse events, such as skin changes or reactions at the injection site, to ensure patient safety throughout the treatment period.
Investigational drug:
The trial uses setmelanotide (also known by its code names RM-493 and BIM-22493), which is provided as IMCIVREE 10 mg/ml solution for injection. Setmelanotide works by activating a specific receptor in the brain called the melanocortin-4 receptor, which plays an important role in regulating appetite and energy balance. It is classified as a melanocortin receptor agonist. By targeting this receptor, the medication aims to help restore some of the regulatory functions that are impaired in ROHHAD syndrome.
Summary
Currently, there is one active clinical trial focused on ROHHAD syndrome, taking place in the Netherlands. This study represents an important step in addressing a rare and challenging condition that affects children and young people. The trial is investigating setmelanotide, a medication that targets specific brain receptors involved in regulating weight, appetite, and energy balance.
The study design involves careful monitoring over an extended period of 52 weeks, allowing researchers to assess both short-term and longer-term effects of the treatment. The comprehensive approach includes evaluating multiple aspects of health, from basic measurements like weight and waist circumference to more complex assessments of sleep quality, breathing function, and overall quality of life.
Given that ROHHAD syndrome is rare and not well understood, this trial offers valuable opportunities for patients and families affected by the condition to access a potential treatment option while contributing to medical knowledge that may benefit others in the future.
