Bronchial malformation

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ORPHA:649014
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13Specialists8Treatment centers

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

Bronchial malformation is a rare congenital condition in which the bronchi — the airways that carry air from the windpipe (trachea) into the lungs — do not develop normally before birth. This abnormal development can affect the shape, size, number, or branching pattern of the bronchial tubes. Because the airways are not formed correctly, air may not flow properly into parts of the lung, which can lead to breathing difficulties, recurrent lung infections, and other respiratory problems. The severity of bronchial malformation varies widely. Some people may have mild forms that cause few or no symptoms and are discovered incidentally on imaging studies done for other reasons. Others, particularly newborns and infants, may experience significant breathing problems that require medical attention soon after birth. Symptoms can include wheezing, chronic cough, repeated pneumonia or bronchitis, and difficulty breathing during exercise or at rest. Treatment depends on the type and severity of the malformation. Mild cases may only need monitoring and management of respiratory infections. More significant malformations may require surgical correction, such as removal of the affected portion of the lung (lobectomy) or reconstruction of the airway. Supportive care, including respiratory therapy and antibiotics for infections, plays an important role. Early diagnosis and appropriate management can significantly improve outcomes and quality of life.

Key symptoms:

Wheezing or noisy breathingChronic or recurrent coughRepeated lung infections such as pneumonia or bronchitisDifficulty breathing or shortness of breathBreathing problems at birth or in infancyStridor (a high-pitched sound when breathing in)Poor feeding in infants due to breathing difficultyBluish skin color (cyanosis) in severe casesReduced exercise toleranceAbnormal chest sounds heard by a doctorCollapse of part of the lung (atelectasis)

Age of Onset

Variable

Can begin at different ages, from infancy through adulthood

Orphanet ↗NORD ↗

FDA & Trial Timeline

10 events
Mar 2026A Phase 1 Study of Cizutamig in IgE Mediated Diseases

Candid Therapeutics — PHASE1

TrialNOT YET RECRUITING
Oct 2025A Clinical Study to Evaluate SM17 in Healthy Participants

SinoMab BioScience Ltd — PHASE1

TrialACTIVE NOT RECRUITING
Aug 2025Microbiome and Atopy in Mali

National Institute of Allergy and Infectious Diseases (NIAID)

TrialNOT YET RECRUITING
Jun 2025Post-Marketing Clinical Follow-Up Trial to Evaluate the Performance and Safety of the Medical Device 047 TD Dermatitis Cream in Adults and Children With Atopic and Contact Dermatitis Symptoms Confirmed by Clinical Parameters

Biokosmes Srl — NA

TrialRECRUITING
Jan 2025A Biorepository of Multiple Allergic Diseases (MADREP) With Longitudinal Follow-Up

National Institute of Allergy and Infectious Diseases (NIAID)

TrialRECRUITING
Jan 2025Bioresorbable Airway Splint Pivotal Clinical Trial

University of Michigan — NA

TrialRECRUITING
Jan 2025Effect of Chest Physiotherapy on Clinical Outcome of Infants With Bronchiolitis

Hawler Medical University — NA

TrialRECRUITING
Oct 2024Allergy, Asthma, and Atopic Eczema in Finland

Tampere University

TrialNOT YET RECRUITING
Aug 2024Research on Body Voice AI Recognition System for Children's Health Management

Xinhua Hospital, Shanghai Jiao Tong University School of Medicine

TrialNOT YET RECRUITING
Jul 2024Acoustic Waveform Respiratory Evaluation

Indiana University — NA

TrialRECRUITING

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

Treatments

No FDA-approved treatments are currently listed for Bronchial malformation.

View clinical trials →

No actively recruiting trials found for Bronchial malformation at this time.

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

Search ClinicalTrials.gov ↗Join the Bronchial malformation community →

Specialists

13 foundView all specialists →
KK
Kunal Kotkar
SAINT LOUIS, MO
Specialist
1 Bronchial malformation publication
HS
Hailey M Shepherd
Specialist
1 Bronchial malformation publication
SB
Sanjeev Bhalla
SAINT LOUIS, MO
Specialist
1 Bronchial malformation publication
NR
Nassir Rostambeigi
MINNEAPOLIS, MN
Specialist
1 Bronchial malformation publication
DK
Daniel Kreisel
SAINT LOUIS, MO
Specialist
1 Bronchial malformation publication
VP
Varun Puri
SAINT LOUIS, MO
Specialist
1 Bronchial malformation publication
JM
Joel Moss, M.D.
Bethesda, Maryland
Specialist

Rare Disease Specialist

PI on 11 active trials
JP
John Matthews, MBBS, MCRP, PhD
Birmingham, Alabama
Specialist

Rare Disease Specialist

PI on 4 active trials
SP
Shijian Liu, Ph.D
Specialist
PI on 2 active trials
BT
Bruce Thompson
Specialist
PI on 2 active trials21 Bronchial malformation publications

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 Bronchial malformation.

Search all travel grants →NORD Financial Assistance ↗

Community

Open Bronchial malformationForum →

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Latest news about Bronchial malformation

Disease timeline:

New recruiting trial: Mobile Health Self-Management and Support System for Chronic and Complex Health Conditions

A new clinical trial is recruiting patients for Bronchial malformation

New recruiting trial: Bioresorbable Airway Splint Pivotal Clinical Trial

A new clinical trial is recruiting patients for Bronchial malformation

New recruiting trial: Post-Marketing Clinical Follow-Up Trial to Evaluate the Performance and Safety of the Medical Device 047 TD Dermatitis Cream in Adults and Children With Atopic and Contact Dermatitis Symptoms Confirmed by Clinical Parameters

A new clinical trial is recruiting patients for Bronchial malformation

New recruiting trial: Effect of CPAP on 6-Minute Walk Test Outcomes in Patients With ECAC

A new clinical trial is recruiting patients for Bronchial malformation

New recruiting trial: Xenon-129 and Inert Fluorinated Gas Lung MRI: Study of Healthy Volunteers and Participants With Pulmonary Disease

A new clinical trial is recruiting patients for Bronchial malformation

New recruiting trial: A Double-Blind, Active-Controlled, Multiple-Ascending Dose Study of Aerosolized RSP-1502 in Subjects With CF and Chronic PA Lung Infection

A new clinical trial is recruiting patients for Bronchial malformation

New recruiting trial: Detection of Genetic Markers of Lung Cancer

A new clinical trial is recruiting patients for Bronchial malformation

New recruiting trial: NIS to Examine the Effectiveness of TDC in Patients With Metastatic Non-squamous NSCLC and High-risk Genetic Alterations

A new clinical trial is recruiting patients for Bronchial malformation

New recruiting trial: Effect of Ultrasound-guided Erector Spinae Plane Block on Postoperative Pain and Sleep Quality of Infants With Congenital Pulmonary Cystic Disease After Thoracoscopic Surgery

A new clinical trial is recruiting patients for Bronchial malformation

New recruiting trial: A Cohort for Inflammatory Respiratory Diseases: From Phenotyping to Personalised Medicine

A new clinical trial is recruiting patients for Bronchial malformation

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 type of bronchial malformation does my child (or do I) have, and how severe is it?,Will this condition require surgery, or can it be managed without an operation?,How often should we have follow-up imaging or lung function tests?,What signs of a respiratory infection should prompt me to seek urgent care?,Are there any activity restrictions I should be aware of?,Could this condition be associated with any other health problems?,What is the long-term outlook for lung function and overall health?

Common questions about Bronchial malformation

What is Bronchial malformation?

Bronchial malformation is a rare congenital condition in which the bronchi — the airways that carry air from the windpipe (trachea) into the lungs — do not develop normally before birth. This abnormal development can affect the shape, size, number, or branching pattern of the bronchial tubes. Because the airways are not formed correctly, air may not flow properly into parts of the lung, which can lead to breathing difficulties, recurrent lung infections, and other respiratory problems. The severity of bronchial malformation varies widely. Some people may have mild forms that cause few or no s

Which specialists treat Bronchial malformation?

13 specialists and care centers treating Bronchial malformation are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.