Overview
Infantile neuroaxonal dystrophy (INAD), also known as Seitelberger disease, is a rare and serious brain disorder that begins in early childhood. It belongs to a group of conditions called neurodegeneration with brain iron accumulation (NBIA). In INAD, the nerve fibers that carry signals throughout the body become damaged. Tiny abnormal swellings, called axonal spheroids, build up in the nervous system and cause it to stop working properly over time. Children with INAD usually develop normally for the first year or two of life, then begin to lose skills they had already learned. The disease affects movement, muscle tone, vision, and thinking. Most children experience progressive muscle weakness, loss of the ability to walk, and eventually loss of speech and the ability to interact with their surroundings. Vision problems, including damage to the optic nerve, are also very common. There is currently no cure for INAD. Treatment focuses on keeping children as comfortable as possible, managing symptoms, and supporting quality of life. This includes physical therapy, feeding support, seizure management, and palliative care. Research into gene therapy and other targeted treatments is ongoing, giving families and researchers hope for the future.
Key symptoms:
Loss of previously learned motor skills such as walking or sittingMuscle weakness and low muscle tone (floppiness)Stiff or spastic muscles over timeLoss of speech and communicationVision problems and gradual vision lossRapid, involuntary eye movements (nystagmus)SeizuresDifficulty swallowing and feeding problemsLoss of bladder and bowel controlIntellectual decline and loss of awareness of surroundingsBreathing difficulties in later stagesCrossed eyes (strabismus)
Clinical phenotype terms (50)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Infantile
Begins in infancy, roughly 1 month to 2 years old
FDA & Trial Timeline
10 eventsCatharina Ziekenhuis Eindhoven
University of Illinois at Chicago — NA
Duke University — NA
Freya Biosciences ApS — PHASE2
Shanghai Ninth People's Hospital Affiliated to Shanghai Jiao Tong University — NA
Insel Gruppe AG, University Hospital Bern — NA
Women and Infants Hospital of Rhode Island — NA
Shady Grove Fertility Reproductive Science Center — NA
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
1 availableLipiodol
hysterosalpingography in adults
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Infantile neuroaxonal dystrophy.
Community
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Start the conversation →Latest news about Infantile neuroaxonal dystrophy
Disease timeline:
New recruiting trial: Hormonal Optimization: Late vs. Immediate Start After Discontinuation of Oral Contraceptives in Assisted Reproductive technologY (HOLIDAY)
A new clinical trial is recruiting patients for Infantile neuroaxonal dystrophy
New recruiting trial: Question Prompt List in Breast Cancer Patients Planned for Neoadjuvant Chemotherapy
A new clinical trial is recruiting patients for Infantile neuroaxonal dystrophy
New recruiting trial: Effects of Erector Spinae Plane Block on Opioid Consumption, Anesthetic Consumption and Hemodynamics in Lumbar Disc Herniation Surgeries.
A new clinical trial is recruiting patients for Infantile neuroaxonal dystrophy
New recruiting trial: Stem Cell Treatment for Lung Injury Caused by Major Infectious Diseases
A new clinical trial is recruiting patients for Infantile neuroaxonal dystrophy
New recruiting trial: Group Advanced Care Planning Pilot for Veterans
A new clinical trial is recruiting patients for Infantile neuroaxonal dystrophy
New recruiting trial: StandUPTV Habits: Feasibility Trial for Maintaining Reductions in Sedentary Screen Time
A new clinical trial is recruiting patients for Infantile neuroaxonal dystrophy
New recruiting trial: Prevention of Persistent Pain With LidocAine iNfusions in Breast Cancer Surgery (PLAN)
A new clinical trial is recruiting patients for Infantile neuroaxonal dystrophy
New recruiting trial: Planned Delivery at 37 Versus 36 Weeks in Pregnancies With Placenta Previaand Accreta
A new clinical trial is recruiting patients for Infantile neuroaxonal dystrophy
New recruiting trial: 177Lu-DOTATATE Modified Delivery Based on Individualized Dosimetry
A new clinical trial is recruiting patients for Infantile neuroaxonal dystrophy
New recruiting trial: Patient-Specific vs. Conventional Positioning in Sagittal Split Ramus Osteotomy
A new clinical trial is recruiting patients for Infantile neuroaxonal dystrophy
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.What genetic testing should we do to confirm the diagnosis, and how long will results take?,What symptoms should we watch for that would require an emergency room visit?,What therapies or specialists should be part of our child's care team right now?,Are there any clinical trials or research studies our child might be eligible for?,When should we start talking about palliative care, and what does that involve?,How do we plan for future care needs such as feeding tubes or breathing support?,Are there patient support groups or other families we can connect with?
Common questions about Infantile neuroaxonal dystrophy
What is Infantile neuroaxonal dystrophy?
Infantile neuroaxonal dystrophy (INAD), also known as Seitelberger disease, is a rare and serious brain disorder that begins in early childhood. It belongs to a group of conditions called neurodegeneration with brain iron accumulation (NBIA). In INAD, the nerve fibers that carry signals throughout the body become damaged. Tiny abnormal swellings, called axonal spheroids, build up in the nervous system and cause it to stop working properly over time. Children with INAD usually develop normally for the first year or two of life, then begin to lose skills they had already learned. The disease af
How is Infantile neuroaxonal dystrophy inherited?
Infantile neuroaxonal dystrophy follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Infantile neuroaxonal dystrophy typically begin?
Typical onset of Infantile neuroaxonal dystrophy is infantile. Age of onset can vary across affected individuals.
Are there clinical trials for Infantile neuroaxonal dystrophy?
Yes — 20 recruiting clinical trials are currently listed for Infantile neuroaxonal dystrophy on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.
Which specialists treat Infantile neuroaxonal dystrophy?
25 specialists and care centers treating Infantile neuroaxonal dystrophy are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.
What treatment and support options exist for Infantile neuroaxonal dystrophy?
1 patient support program are currently tracked on UniteRare for Infantile neuroaxonal dystrophy. See the treatments and support programs sections for copay assistance, eligibility, and contact details.