Treatment of Rapid Onset Obesity, Hypoventilation, Hypothalamic Dysfunction, and Autonomic Dysregulation (ROHHAD )

• Status: Active, not recruiting
• Trial end date: 2023-03-01
• Target enrollment: 0
• Participant gender: All

Summary

ROHHAD (rapid onset obesity, hypothalamic dysfunction, hypoventilation, and autonomic dysregulation) syndrome is a rare pediatric disorder associated with a cancer called neuroblastoma and presumed to be driven by an attack of the immune system on specific area in the brain. Patients develop severe symptoms and often succumb to this disease. Based on the researchers' experience the investigators conduct a clinical trial to study intensive immunosuppression with high-dose cyclophosphamide in these patients. In addition to describing the symptomatic improvement, the investigators' trial seeks to define objective markers of disease activity.

• Phase: N/A
• Accepts Healthy Volunteers?: No

Details

• Lead Sponsor: Johns Hopkins University; Sidney Kimmel Comprehensive Cancer Center
• Treatments: Cyclophosphamide

Criteria

Inclusion Criteria:

• Diagnosis of ROHHAD syndrome confirmed by two physicians.

• Any symptomatic improvement in response to a course of rituximab (five weekly doses) as assessed by parents and/or treating physician

• Normal brain MRI

• Cared for at home by the family

• Patients requiring bilevel positive airway pressure (BiPAP) support are eligible

• Negative pregnancy test for post pubertal female patients

Exclusion Criteria:

• Cardiac ejection fraction <40% or shortening fraction <20%.

• Inadequate pulmonary function, i.e. forced vital capacity or forced expiratory volume at one second < 50% of predicted for children greater than 8 years of age, or oxygen saturation <93% on pulse oximetry for younger children.

• Ventilator dependent

• Known chromosomal abnormality

• Active cancer diagnosis. Neuroblastoma that requires only follow up is eligible.

• Pregnancy