Rare neurologic disease

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ORPHA:98006
Who is this for?
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30Specialists8Treatment centers

Where are you in your journey?

UniteRare data is sourced from FDA.gov, ClinicalTrials.gov, Orphanet, OMIM, and NORD.
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Overview

Orphanet code 98006 corresponds to the broad category of rare neurologic diseases, which encompasses a wide and heterogeneous group of disorders affecting the central and/or peripheral nervous system. These conditions may involve the brain, spinal cord, peripheral nerves, neuromuscular junction, or muscles, and can manifest with a diverse range of symptoms including movement abnormalities, cognitive impairment, seizures, sensory deficits, weakness, and autonomic dysfunction. Because this code represents a grouping category rather than a single specific disease entity, the clinical features, inheritance patterns, age of onset, and prognosis vary enormously depending on the individual condition within this classification. Rare neurologic diseases collectively affect a significant number of individuals worldwide, though each individual condition may be extremely uncommon. Many of these disorders have a genetic basis, while others may be autoimmune, metabolic, degenerative, or of unknown etiology. Diagnosis often requires specialized neurological evaluation, advanced neuroimaging, electrophysiological studies, genetic testing, and sometimes tissue biopsy. Treatment approaches range from symptomatic and supportive care to targeted therapies, including enzyme replacement therapy, gene therapy, immunomodulatory treatments, and disease-modifying agents, depending on the specific underlying condition. Research into rare neurologic diseases has accelerated in recent years, with numerous clinical trials and emerging therapies offering hope for improved outcomes in many of these conditions.

Also known as:

Inheritance

Variable

Can be inherited in different ways depending on the underlying gene

Age of Onset

Variable

Can begin at different ages, from infancy through adulthood

Orphanet ↗NORD ↗

FDA & Trial Timeline

10 events
Apr 2026Stakeholders of Rare Diseases Informing Values In Neuroethics

St. Jude Children's Research Hospital

TrialRECRUITING
Feb 2026Characterization and Contribution of Genome-wide DNA Methylation (DNA Methylation Episignatures) in Rare Diseases With Prenatal Onset

Assistance Publique - Hôpitaux de Paris

TrialRECRUITING
Feb 2026Observational Study of Responses to Treatments in Advanced Central Nervous System (CNS) Tumors

National Cancer Institute (NCI) — NA

TrialRECRUITING
Feb 2026Evaluation of Impact of AI Assistance on Workload Associated w Preparation of Rare Tumor Case Repts

UNC Lineberger Comprehensive Cancer Center — NA

TrialNOT YET RECRUITING
Dec 2025Multicentre Real-life Follow-up Study of Rare Epileptic Syndromes in Children and Adolescents

Assistance Publique - Hôpitaux de Paris

TrialRECRUITING
Nov 2025DETERMINE Trial Treatment Arm 03: Entrectinib in Adult, Paediatric and Teenage/Young Adult Patients With ROS1 Gene Fusion-Positive Cancers.

Cancer Research UK — PHASE2, PHASE3

TrialRECRUITING
Oct 2025A Study of SGT-212 Gene Therapy in Friedreich's Ataxia

Solid Biosciences Inc. — PHASE1

TrialRECRUITING
Jun 2025MIHRA - Patient-Rooted Insights for Shaping Myositis Science (PRISMS)

Myositis International Health & Research Collaborative Alliance Foundation

TrialRECRUITING
Feb 2025Clinical Trial of the Dual Vector Base Editor for the Treatment of the CHD3-R1025W Mutation

Yongguo Yu — EARLY_PHASE1

TrialRECRUITING
Feb 2025Epidural Spinal Cord Stimulation for Lower-limb Impairment in Adrenomyeloneuropathy

Third Military Medical University — NA

TrialRECRUITING

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

Treatments

No FDA-approved treatments are currently listed for Rare neurologic disease.

View clinical trials →

No actively recruiting trials found for Rare neurologic disease at this time.

New trials open frequently. Follow this disease to get notified.

Search ClinicalTrials.gov ↗Join the Rare neurologic disease community →

Specialists

Showing 25 of 30View all specialists →
HM
Horacio Kaufmann, MD
NEW YORK, NY
Specialist
PI on 10 active trials
CM
Cornelia D Cudrici, M.D.
BETHESDA, MD
Specialist
PI on 2 active trials
SP
Stacey L Clardy, MD, PhD
Birmingham, Alabama
Specialist

Rare Disease Specialist

PI on 1 active trial
GM
Gianni Bisogno, MD
Specialist
PI on 2 active trials
AP
Anna Jansen, MD, PhD
Silver Spring, Maryland
Specialist

Rare Disease Specialist

PI on 2 active trials
AW
Ann Woolfrey
SEATTLE, WA
Specialist
PI on 5 active trials
AT
Amanda M Termuhlen
MINNEAPOLIS, MN
Specialist
PI on 1 active trial1 Rare neurologic disease publication
MM
Michael Heinrich, MD
Specialist
PI on 1 active trial
DM
Daniel Glaze, MD
ODESSA, WA
Specialist
PI on 2 active trials
RM
Richard Atkinson, M.D.
Specialist
PI on 1 active trial
JM
Jaysinghe Yadav, M.D.
Specialist
PI on 1 active trial
AP
Anita MacDonald, Professor
Specialist
PI on 2 active trials1 Rare neurologic disease publication
NM
Nick Hopkins, M.D.
Specialist
PI on 1 active trial
RM
Ronald Fairman, M.D.
PHILADELPHIA, PA
Specialist
PI on 1 active trial
WM
William Gray, M.D.
Specialist
PI on 1 active trial
RM
Rod Raabe, M.D.
SPOKANE, WA
Specialist
PI on 1 active trial

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 Rare neurologic disease.

Search all travel grants →NORD Financial Assistance ↗

Community

Open Rare neurologic diseaseForum →

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Latest news about Rare neurologic disease

Disease timeline:

New recruiting trial: The ExTINGUISH Trial of Inebilizumab in NMDAR Encephalitis

A new clinical trial is recruiting patients for Rare neurologic disease

New recruiting trial: Clinical Study To Further Evaluate The Efficacy Of Dabrafenib Plus Trametinib In Patients With Rare BRAF V600E Mutation-Positive Unresectable or Metastatic Solid Tumors

A new clinical trial is recruiting patients for Rare neurologic disease

New recruiting trial: Stakeholders of Rare Diseases Informing Values In Neuroethics

A new clinical trial is recruiting patients for Rare neurologic disease

New recruiting trial: Caregiving Networks Across Disease Context and the Life Course

A new clinical trial is recruiting patients for Rare neurologic disease

New recruiting trial: Friedreich Ataxia Global Clinical Consortium UNIFIED Natural History Study

A new clinical trial is recruiting patients for Rare neurologic disease

New recruiting trial: Effects of Midodrine and Droxidopa on Splanchnic Capacitance in Autonomic Failure

A new clinical trial is recruiting patients for Rare neurologic disease

New recruiting trial: Epilepsy Learning Healthcare System (ELHS)

A new clinical trial is recruiting patients for Rare neurologic disease

New recruiting trial: Establishing Walking-related Digital Biomarkers in Rare Childhood Onset Progressive Neuromuscular Disorders

A new clinical trial is recruiting patients for Rare neurologic disease

New recruiting trial: Natural History and Advanced Genetic Study of Pyruvate Dehydrogenase Complex Deficiencies

A new clinical trial is recruiting patients for Rare neurologic disease

New recruiting trial: Acceptance and Commitment Therapy for Caregivers of Children With a RASopathy: An Internal Pilot Feasibility Study and Follow-up Randomized Controlled Trial

A new clinical trial is recruiting patients for Rare neurologic disease

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.

Common questions about Rare neurologic disease

What is Rare neurologic disease?

Orphanet code 98006 corresponds to the broad category of rare neurologic diseases, which encompasses a wide and heterogeneous group of disorders affecting the central and/or peripheral nervous system. These conditions may involve the brain, spinal cord, peripheral nerves, neuromuscular junction, or muscles, and can manifest with a diverse range of symptoms including movement abnormalities, cognitive impairment, seizures, sensory deficits, weakness, and autonomic dysfunction. Because this code represents a grouping category rather than a single specific disease entity, the clinical features, in

Which specialists treat Rare neurologic disease?

25 specialists and care centers treating Rare neurologic disease are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.