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

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.
 
ClinicalTrials.gov Identifier: NCT02441491
Recruitment Status : Active, not recruiting
First Posted : May 12, 2015
Last Update Posted : April 22, 2022
Sponsor:
Information provided by (Responsible Party):
Johns Hopkins University

Study Description
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Brief 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.

Condition or disease Intervention/treatment Phase
ROHHAD Syndrome Drug: Cyclophosphamide Not Applicable

Detailed Description:

Baseline evaluation will include:

Sleep study and pulmonary evaluation Hormone levels Determination of up to 6 key ROHHAD-related symptoms to be followed Hyperphagia questionnaire 18F-2-fluoro-2-deoxy-D-glucose fluorodeoxyglucose (FDG) positron emission tomography (PET) scan Dual energy x-ray absorptiometry (DXA) scan Cerebrospinal fluid (CSF) analysis

Patients will be treated with cyclophosphamide, 50 mg/kg (ideal body weight)/dose daily for 4 days, with Mesna and hydration as prophylaxis against hemorrhagic cystitis. Supportive care will include mucosal care, transfusions, infection prophylaxis, and empiric treatment for febrile neutropenia.

Composite severity score will be assessed to measure response of key symptoms, and formal neuropsychological testing, sleep study, and hormone studies will be performed.

Study Design
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Study Type : Interventional  (Clinical Trial)
Estimated Enrollment : 12 participants
Allocation: N/A
Intervention Model: Single Group Assignment
Masking: None (Open Label)
Primary Purpose: Treatment
Official Title: High-dose Cyclophosphamide for the Treatment of ROHHAD (Rapid Onset Obesity, Hypoventilation, Hypothalamic Dysfunction, and Autonomic Dysregulation) Syndrome
Study Start Date : March 2015
Estimated Primary Completion Date : March 2024
Estimated Study Completion Date : March 2025

Resource links provided by the National Library of Medicine


Arms and Interventions
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Arm Intervention/treatment
Experimental: Cyclophosphamide

Cyclophosphamide will be given by vein once a day for four straight days.

Ten days after starting cyclophosphamide, filgrastim, a drug that helps normal blood cells to grow, will be given by vein once every day to try to help your blood cells grow faster.

 Drug: Cyclophosphamide

Cyclophosphamide will be given by vein once a day for four straight days.

Ten days after starting cyclophosphamide, filgrastim, a drug that helps normal blood cells to grow, by vein once every day to try to help your blood cells grow faster.

Other Name: Cytoxan


Outcome Measures
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Primary Outcome Measures :
  1. Symptomatic improvement on the ROHHAD Symptoms Scale of children with ROHHAD syndrome after treatment with high-dose cyclophosphamide . [ Time Frame: 18 months ]
  2. Safety and toxicity of high-dose cyclophosphamide used to treat children with ROHHAD of as measured by NCI Common Terminology Criteria for Adverse Events (CTCAE) v4.0. [ Time Frame: 18 months ]

Secondary Outcome Measures :
  1. To calculate Area Under Curve (AUC) of high dose cyclophosphamide in obese children. [ Time Frame: predose, 0, 1, 2, 4, 8, 12 and 24 hrs from the completion of infusion. ]
  2. Neuropsychological function of patients with ROHHAD before and after high-dose cyclophosphamide measured using complementary age appropriate evaluation tools including Wechsler Preschool and Primary Scale of Intelligence RAN objects, and AIM. [ Time Frame: 18 months ]

Eligibility Criteria
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Ages Eligible for Study:   12 Months to 22 Years   (Child, Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
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
Contacts and Locations
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Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02441491


Locations
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United States, Maryland
Sidney Kimmel Cancer Center
Baltimore, Maryland, United States, 21287
Sponsors and Collaborators
Johns Hopkins University
Investigators
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Study Chair: Allen Chen, MD, PhD Sidney Kimmel Comprehensive Cancer Center at Johns Hopkins
More Information
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Publications automatically indexed to this study by ClinicalTrials.gov Identifier (NCT Number):

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Responsible Party: Johns Hopkins University
ClinicalTrials.gov Identifier: NCT02441491    
Other Study ID Numbers: IRB00060912
J1520 ( Other Identifier: SKCCC )
First Posted: May 12, 2015    Key Record Dates
Last Update Posted: April 22, 2022
Last Verified: April 2022
Additional relevant MeSH terms:
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Hypoventilation
Autonomic Nervous System Diseases
Primary Dysautonomias
Syndrome
Disease
Pathologic Processes
Respiratory Insufficiency
Respiration Disorders
Respiratory Tract Diseases
Signs and Symptoms, Respiratory
Nervous System Diseases
 Cyclophosphamide
Immunosuppressive Agents
Immunologic Factors
Physiological Effects of Drugs
Antirheumatic Agents
Antineoplastic Agents, Alkylating
Alkylating Agents
Molecular Mechanisms of Pharmacological Action
Antineoplastic Agents
Myeloablative Agonists