Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome

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2Active trials2Specialists8Treatment centers

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Overview

Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome, commonly known as ROHHAD or ROHHAD syndrome, is an extremely rare and serious condition that typically begins in early childhood. Children with ROHHAD usually develop normally at first, but then experience rapid and severe weight gain starting between ages 1.5 and 7 years. This dramatic weight gain is caused by problems with the hypothalamus, a part of the brain that controls appetite, body temperature, hormone levels, and other vital functions. After the obesity begins, children develop additional problems including dysfunction of the autonomic nervous system, which controls automatic body functions like breathing, heart rate, and body temperature regulation. One of the most dangerous features is hypoventilation, meaning the body does not breathe deeply or frequently enough, especially during sleep. This can lead to dangerously low oxygen levels and can be life-threatening if not recognized and treated promptly. Children with ROHHAD may also develop hormonal imbalances, behavioral changes, and in some cases, tumors of the nervous system called ganglioneuromas or ganglioneuroblastomas. There is currently no cure for ROHHAD. Treatment focuses on managing each symptom individually, with particular attention to supporting breathing, managing weight, and replacing missing hormones. Early recognition and a coordinated team of specialists are essential for improving outcomes.

Also known as:

Key symptoms:

Rapid and severe weight gain in early childhoodShallow or inadequate breathing, especially during sleepProblems regulating body temperatureExcessive thirst and urinationHormonal imbalancesBehavioral or mood changesAbnormal sweating patternsLow sodium levels in the bloodIrregular heart rateEye problems such as abnormal pupil responsesTumors along the nerve chain in the chest or abdomenSleep-disordered breathingDifficulty maintaining normal blood pressureDevelopmental or learning difficultiesEpisodes of turning blue from low oxygen

Clinical phenotype terms (50)— hover any for plain English
Decreased lacrimationHP:0000633Abnormality of the hypothalamus-pituitary axisHP:0000864Abnormal midbrain morphologyHP:0002418HypoventilationHP:0002791HyperglycemiaHP:0003074
Inheritance

Sporadic

Usually appears on its own, not inherited from a parent

Age of Onset

Childhood

Begins in childhood, roughly ages 1 to 12

Orphanet ↗NORD ↗

FDA & Trial Timeline

2 events
Nov 2015Whole Transcriptome Profiling and Metabolic Phenotyping in Children With ROHHAD Syndrome

Columbia University

TrialRECRUITING
Jun 2013International Rapid-onset Obesity with Hypothalamic Dysfunction, Hypoventilation & Autonomic Dysregulation (ROHHAD) Registry

Debra Weese-Mayer

TrialRECRUITING

Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.

Treatments

No FDA-approved treatments are currently listed for Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome.

2 clinical trialsare actively recruiting — trials can provide access to cutting-edge therapies.

View clinical trials →

Clinical Trials

2 recruitingView all trials with filters →
Other2 trials
Whole Transcriptome Profiling and Metabolic Phenotyping in Children With ROHHAD Syndrome
Actively Recruiting
PI: Vidhu Thaker, MD (Columbia University) · Sites: Boston, New York; New York, New York · Age: 220 yrs
International Rapid-onset Obesity with Hypothalamic Dysfunction, Hypoventilation & Autonomic Dysregulation (ROHHAD) Registry
Actively Recruiting
· Sites: Chicago, Illinois

Specialists

2 foundView all specialists →
VT
Vidhu Thaker
NEW YORK, NY
Specialist
PI on 2 active trials

Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome.

Search all travel grants →NORD Financial Assistance ↗

Community

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Latest news about Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome

Disease timeline:

New recruiting trial: Whole Transcriptome Profiling and Metabolic Phenotyping in Children With ROHHAD Syndrome

A new clinical trial is recruiting patients for Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome

New recruiting trial: International Rapid-onset Obesity with Hypothalamic Dysfunction, Hypoventilation & Autonomic Dysregulation (ROHHAD) Registry

A new clinical trial is recruiting patients for Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome

Caregiver Resources

NORD Caregiver Resources

Support, advocacy, and financial assistance for caregivers of rare disease patients.

Mental Health Support

Rare disease caregiving can be isolating. Connect with counseling and peer support.

Family & Caregiver Grants

Financial assistance programs specifically for caregivers of rare disease patients.

Social Security Disability

Learn how rare disease patients may qualify for SSDI/SSI benefits.

Questions for your doctor

Bring these to your next appointment

  • Q1.Does my child need a sleep study, and how often should it be repeated?,What type of breathing support does my child need, and will it be needed during the day as well as at night?,Which hormones should be tested, and how often should hormone levels be checked?,Should my child be screened for neural crest tumors, and how often?,What emergency signs should I watch for at home, and what should I do if they occur?,Are there any clinical trials or research studies my child could participate in?,What support services are available for our family, including home nursing and psychological support?

Common questions about Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome

What is Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome?

Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome, commonly known as ROHHAD or ROHHAD syndrome, is an extremely rare and serious condition that typically begins in early childhood. Children with ROHHAD usually develop normally at first, but then experience rapid and severe weight gain starting between ages 1.5 and 7 years. This dramatic weight gain is caused by problems with the hypothalamus, a part of the brain that controls appetite, body temperature, hormone levels, and other vital functions. After the obesity begins, children develop a

How is Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome inherited?

Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome follows a sporadic inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome typically begin?

Typical onset of Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome is childhood. Age of onset can vary across affected individuals.

Are there clinical trials for Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome?

Yes — 2 recruiting clinical trials are currently listed for Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.

Which specialists treat Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome?

2 specialists and care centers treating Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.