Cyclic neutropenia

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ORPHA:2686OMIM:162800D70
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1Active trials21Specialists8Treatment centers1Financial resources

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

Cyclic neutropenia is a rare blood disorder in which the number of neutrophils — a type of white blood cell that fights infections — drops very low in a regular, repeating pattern, usually every 21 days. Each episode of low neutrophil counts (called neutropenia) typically lasts 3 to 6 days. During these episodes, the body has a much harder time fighting off infections, especially bacterial infections. Patients commonly experience recurring mouth sores (oral ulcers), sore throats, fevers, and skin infections that come and go in a predictable cycle. The condition is usually present from early childhood, though some cases are diagnosed later. It is caused by mutations in the ELANE gene, which provides instructions for making a protein called neutrophil elastase. This protein is important for the normal development of neutrophils in the bone marrow. When the gene is mutated, neutrophil production becomes unstable and follows a cyclical pattern of rising and falling counts. The main treatment for cyclic neutropenia is granulocyte colony-stimulating factor (G-CSF), sold under the brand name Neupogen (filgrastim). G-CSF stimulates the bone marrow to produce more neutrophils, which shortens the duration and severity of the low-count episodes. With proper treatment, most patients can lead relatively normal lives, though they must remain vigilant about infections during neutropenic periods. Good dental hygiene and prompt treatment of infections are also important parts of managing this condition.

Key symptoms:

Recurring mouth sores and ulcersFrequent fevers that come and go in a regular patternSore throat and inflamed gums (gingivitis)Skin infections or boilsEar infectionsAbdominal painDiarrhea during neutropenic episodesFatigue and feeling unwell during low-count periodsSwollen and bleeding gumsRecurrent respiratory infectionsCellulitis (deep skin infections)Periodontal disease and tooth loss over timeLymph node swelling

Clinical phenotype terms (32)— hover any for plain English
Cyclically decreased total neutrophil countHP:0040289Recurrent tonsillitisHP:0011110Respiratory tract infectionHP:0011947Cervical lymphadenopathyHP:0025289PharyngitisHP:0025439Tooth abscessHP:0030757Periodic feverHP:0032323PeriodontitisHP:0000704
Inheritance

Autosomal dominant

Passed on from just one parent; each child has about a 50% chance of inheriting it

Age of Onset

Childhood

Begins in childhood, roughly ages 1 to 12

Orphanet ↗OMIM ↗NORD ↗

FDA & Trial Timeline

1 event
Oct 2024Serial Blood Count Study

University of Washington — EARLY_PHASE1

TrialRECRUITING

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

Treatments

No FDA-approved treatments are currently listed for Cyclic neutropenia.

1 clinical trialare actively recruiting — trials can provide access to cutting-edge therapies.

View clinical trials →

Clinical Trials

1 recruitingView all trials with filters →

Specialists

21 foundView all specialists →
JZ
Jing-Jing Zhao
Specialist
1 Cyclic neutropenia publication
YM
Yan Ma
Specialist
1 Cyclic neutropenia publication
LZ
Lei Zhao
BOSTON, MA
Specialist
1 Cyclic neutropenia publication
RL
Rui-Jun Li
Specialist
1 Cyclic neutropenia publication
AG
Alessia Dalila Guarino
Specialist
1 Cyclic neutropenia publication
GL
Gaetano Luglio
Specialist
1 Cyclic neutropenia publication
NI
Nicola Imperatore
Specialist
1 Cyclic neutropenia publication
GC
Giuseppe Cerciello
Specialist
1 Cyclic neutropenia publication
NP
Novella Pugliese
Specialist
1 Cyclic neutropenia publication
FC
Fabiana Castiglione
Specialist
1 Cyclic neutropenia publication
FT
Francesca Paola Tropeano
Specialist
1 Cyclic neutropenia publication
AT
Anna Testa
Specialist
1 Cyclic neutropenia publication
OO
Oriana Olmo
Specialist
1 Cyclic neutropenia publication
AR
Antonio Rispo
Specialist
1 Cyclic neutropenia publication
JL
Jun-Li Li
Specialist
1 Cyclic neutropenia publication
JM
JaeHong Seo, M.D.
Specialist
PI on 2 active trials
VP
Vivianne CG Tjan-Heijnen, MD PhD
Specialist
PI on 1 active trial
YP
Yuankai Shi, Ph.D
Specialist
PI on 1 active trial
VV
Vanita Pindolia, PharmD, VP
Specialist
PI on 1 active trial
PP
Pam Pawloski, PharmD
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

Financial Resources

1 resources

NEUPOGEN

Amgen

Neutropenia

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copay card
Copay CardPatient Assistance
Accepting applications

Travel Grants

No travel grants are currently matched to Cyclic neutropenia.

Search all travel grants →NORD Financial Assistance ↗

Community

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Latest news about Cyclic neutropenia

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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.How often should my blood counts be checked to monitor the cycle?,What dose of G-CSF is right for me or my child, and how often should it be given?,What temperature or symptoms should prompt an emergency room visit?,Are there any vaccines I should avoid or make sure to get?,How can I protect my teeth and gums from long-term damage?,Is genetic testing recommended for other family members?,Are there any clinical trials or new treatments being studied for cyclic neutropenia?

Common questions about Cyclic neutropenia

What is Cyclic neutropenia?

Cyclic neutropenia is a rare blood disorder in which the number of neutrophils — a type of white blood cell that fights infections — drops very low in a regular, repeating pattern, usually every 21 days. Each episode of low neutrophil counts (called neutropenia) typically lasts 3 to 6 days. During these episodes, the body has a much harder time fighting off infections, especially bacterial infections. Patients commonly experience recurring mouth sores (oral ulcers), sore throats, fevers, and skin infections that come and go in a predictable cycle. The condition is usually present from early c

How is Cyclic neutropenia inherited?

Cyclic neutropenia follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does Cyclic neutropenia typically begin?

Typical onset of Cyclic neutropenia is childhood. Age of onset can vary across affected individuals.

Are there clinical trials for Cyclic neutropenia?

Yes — 1 recruiting clinical trial is currently listed for Cyclic neutropenia on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.

Which specialists treat Cyclic neutropenia?

21 specialists and care centers treating Cyclic neutropenia are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.

What treatment and support options exist for Cyclic neutropenia?

1 patient support program are currently tracked on UniteRare for Cyclic neutropenia. See the treatments and support programs sections for copay assistance, eligibility, and contact details.