Klippel-Feil SyndromeNCT03741790
Airway Management of Pediatric Patients With Klippel-Feil Syndrome
An observational study of Klippel-Feil Syndrome, run by Boston Children's Hospital at 1 site in United States.
Trial summary
Klippel-Feil syndrome (KFS) was first described in 1912 by Klippel and Feil as a classic triad are comprised of a short neck, a low posterior hairline and restricted motion of the neck. This disease is considered as one of the congenital causes of difficult airway with the incidence of 1:42,000 live births. Read more about this study
- Who is it for?
- Any ageHealthy volunteers can take part
- Conditions the study is for
- Klippel-Feil Syndrome
- What is being tested?
- Ventilation and Intubation
- Type of treatment
- Surgery or procedure
- How many people
- 300 participants
- Where
- 1 siteUnited States
- Study dates
- 1 Nov 2018to 31 Dec 2027
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Study population: All KFS patients who scheduled for surgery at BCH from June 2012 to June 2018.
Who may be able to join
- All KFS patients who scheduled for surgery at BCH from June 2012 to June 2018.
Who cannot join
- Patients with incomplete or absent of medical records on AIMS such as ventilation and intubation technique are not clearly document.
Trial locations and contacts
1 site in 1 country.
United States1 site
Boston children's hospital
Boston, Massachusetts, 02115
About this study
Klippel-Feil syndrome (KFS) was first described in 1912 by Klippel and Feil as a classic triad are comprised of a short neck, a low posterior hairline and restricted motion of the neck. This disease is considered as one of the congenital causes of difficult airway with the incidence of 1:42,000 live births.
The current research findings suggested that the difficulties of airway management for KFS increases with age. In pediatric patients, the airway of those patients can be managed without difficulties. For adults, the fiberoptic-assisted intubation is also suggested.
The purpose of this study is to review the airway management of pediatric patients with KFS to provide recommendation of airway management for these patients. A retrospective electronic chart review will be conducted by using Boston Children's Hospital (BCH) database, which identified patients with KFS who had undergone general anesthesia from June 2012 to June 2018.
Read the detailed description
Klippel-Feil syndrome (KFS) was first described in 1912 by Klippel and Feil as a classic triad are comprised of a short neck, a low posterior hairline and restricted motion of the neck due to fused cervical vertebrae with the incidence of 1:42,000 live births1,2. The etiology is presumed to involve in PAX gene family mutation defect and Notch signaling pathway. KFS patients are classified into 3 types based on the location of fusion; Type 1 patients have a single congenitally fused cervical segment; Type 2 patients show multiple non-contiguous, congenitally fused cervical segments; and Type 3 patients show multiple contiguous, congenitally fused cervical segments. In 1974, Hensinger et al studied 50 KFS patients aged 4 to 34 years and their associated anomalies. The findings revealed less than half had the classic triad of findings, more than half had scoliosis and a third had renal anomalies. All patients were at risk of having other serious anomalies such as Sprengel's deformity, hearing impairment, synkinesia and congenital heart disease.
The current literature focused on isolated case reports suggested an awake fiberoptic intubation as a safest option to secure airway in adult patient with KFS. For pediatric patients with KFS, their airway management could be challenging, there is no literature report describing unsuccessful or difficult mask ventilation or LMA insertion. Bakan et al reported an overview of direct laryngoscopy for tracheal intubation in KFS patients aged 26 days to 16 years old, 18 of 25 cases were successfully intubated by direct laryngoscope (DL). From 13 literatures reviewed by Bakan et al, there is no report of an unsuccessful DL in children with KFS younger than 4 years. Despite the formidable appearance for airway management, recent pediatric data encourage the anesthesia providers to perform DL instead of fiberoptic intubation. However, a successful DL event in anesthesia history record does not guarantee an ease of next DL event because the airway of KFS patients are progressively worse over time.
The investigators propose a retrospective electronic chart review of patients with KFS who had undergone general anesthesia in Boston Children's Hospital from June 2012 to June 2018. The purpose of this study is to review the airway management techniques of pediatric patients with KFS and provide recommendation of airway management for these patients. A retrospective electronic chart review will be conducted by using Boston Children's Hospital (BCH) database, which identified patients with KFS who had undergone general anesthesia from June 2012 to June 2018.
The investigators hope to provide specific anatomical abnormalities and age of pediatric patients with KFS to suggest they are at risk of difficult airway. Finally, the investigators hope this information can be used to suggest a proper choice of airway management for specific type and age group of KFS patients.
- Conditions
- Klippel-Feil Syndrome
- Being tested
- Ventilation, Intubation
- Keywords
- airway, intubation
- Medical subject headings
- Klippel-Feil Syndrome
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
VentilationProcedure or surgery
The difficult mask ventilation is defined as A) It is not possible for unassisted anesthesiologist to maintain the SpO2 > 90% using 100% oxygen and positive pressure mask ventilation in a patient whose SpO2 > 90% before anesthetic intervention; and/or B) It is not possible for unassisted anesthesiologist to prevent or reverse signs of inadequate ventilation during positive mask ventilation.
IntubationProcedure or surgery
The difficult endotracheal intubation is defined as " It is not possible to visualize any portion of the vocal cords with conventional laryngoscopy" or when proper insertion of the endotracheal tube with conventional laryngoscopy requires more than three attempts or more than ten minutes.
What is being measured
The primary outcome is the main question the study is designed to answer.
Prevalence of difficult airway cases among KFS is defined by using the ASA task force definition.
The difficult airway is defined as "The clinical situation in which a conventionally trained anesthesiologist experiences difficulty with mask ventilation, difficulty with tracheal intubation, or both".
Measured: We will collect data on a day of surgery from patient's arrival into their induction and intubation period, and through their postoperative period upto 1 week.
Secondary outcomes (1)
Specific anatomical abnormalities of KFS patients which related to difficult airway
Specific anatomical abnormalities of KFS patients who had difficult airway is define by radiological classification based on the location of fusion; Type 1 patients have a single congenitally fused cervical segment; Type 2 patients show multiple non-contiguous, congenitally fused cervical segments; and Type 3 patients show multiple contiguous, congenitally fused cervical segments.
Measured: We will collect data on a day of surgery from patient's arrival into their induction and intubation period, and through their postoperative period upto 1 week
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted15 Nov 2018
- Study start1 Nov 2018
- Primary completion30 Jun 2019
- Study completion31 Dec 2027 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (8)Papers the sponsor has linked to this study.
- Other trials for Klippel-Feil SyndromeStudies of the same condition, open and under way.
- More trials run by Boston Children's HospitalThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Retrospective
- Enrolment
- 300 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Boston Children's Hospital
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Patcharee Sriswasdi, Boston Children's Hospital
- Investigators
- Patcharee Sriswasdi, MD, MPH, Principal investigator, Boston Children's Hospital
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03741790
- Sponsor's protocol ID
- IRB-P00029640
- Status last verified
- Apr 2026
- First submitted
- 29 Aug 2018
- Last updated
- 22 Apr 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided: We might share individual participant data if it allows maximum use of the data.
Publications
Hase Y, Kamekura N, Fujisawa T, Fukushima K. Repeated anesthetic management for a patient with Klippel-Feil syndrome. Anesth Prog. 2014 Fall;61(3):103-6. doi: 10.2344/0003-3006-61.3.103.
PubMed 25191983Altay N, Yuce HH, Aydogan H, Dorterler ME. Airway management in newborn with Klippel-Feil syndrome. Braz J Anesthesiol. 2016 Sep-Oct;66(5):551-3. doi: 10.1016/j.bjane.2014.03.006. Epub 2014 Apr 29.
PubMed 27591474Stallmer ML, Vanaharam V, Mashour GA. Congenital cervical spine fusion and airway management: a case series of Klippel-Feil syndrome. J Clin Anesth. 2008 Sep;20(6):447-51. doi: 10.1016/j.jclinane.2008.04.009.
PubMed 18929286Raj D, Luginbuehl I. Managing the difficult airway in the syndromic child. Continuing Education in Anaesthesia Critical Care & Pain. 2015;15(1):7-13.
Khawaja OM, Reed JT, Shaefi S, Chitilian HV, Sandberg WS. Crisis resource management of the airway in a patient with Klippel-Feil syndrome, congenital deafness, and aortic dissection. Anesth Analg. 2009 Apr;108(4):1220-5. doi: 10.1213/ane.0b013e3181957d9b.
PubMed 19299791Samartzis DD, Herman J, Lubicky JP, Shen FH. Classification of congenitally fused cervical patterns in Klippel-Feil patients: epidemiology and role in the development of cervical spine-related symptoms. Spine (Phila Pa 1976). 2006 Oct 1;31(21):E798-804. doi: 10.1097/01.brs.0000239222.36505.46.
PubMed 17023841Hensinger RN, Lang JE, MacEwen GD. Klippel-Feil syndrome; a constellation of associated anomalies. J Bone Joint Surg Am. 1974 Sep;56(6):1246-53.
PubMed 4436358Bakan M, Umutoglu T, Zengin SU, Topuz U. The success of direct laryngoscopy in children with Klippel-Feil Syndrome. Minerva Anestesiol. 2015 Dec;81(12):1384-6. Epub 2015 Sep 18. No abstract available.
PubMed 26381356
Study at a glance
From the registry record, last updated by the sponsor on 22 Apr 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Airway Management of Pediatric Patients With Klippel-Feil Syndrome
- ClinicalTrials.gov ID
- NCT03741790
- Acronym / sponsor ID
- IRB-P00029640
- Conditions
- Klippel-Feil Syndrome
- Keywords
- airway, intubation
- Study type
- Observational
- Recruitment status
- Active, not recruiting
- Enrolment
- 300 participants (estimated)
- Lead sponsor
- Boston Children's HospitalUniversity, hospital or other
- Study start
- 1 Nov 2018 (actual)
- Primary completion
- 30 Jun 2019 (actual)
- Study completion
- 31 Dec 2027 (estimated)
- First posted
- 15 Nov 2018 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
Klippel-Feil syndrome (KFS) was first described in 1912 by Klippel and Feil as a classic triad are comprised of a short neck, a low posterior hairline and restricted motion of the neck. This disease is considered as one of the congenital causes of difficult airway with the incidence of 1:42,000 live births.
The current research findings suggested that the difficulties of airway management for KFS increases with age. In pediatric patients, the airway of those patients can be managed without difficulties. For adults, the fiberoptic-assisted intubation is also suggested.
The purpose of this study is to review the airway management of pediatric patients with KFS to provide recommendation of airway management for these patients. A retrospective electronic chart review will be conducted by using Boston Children's Hospital (BCH) database, which identified patients with KFS who had undergone general anesthesia from June 2012 to June 2018.
Detailed description
Klippel-Feil syndrome (KFS) was first described in 1912 by Klippel and Feil as a classic triad are comprised of a short neck, a low posterior hairline and restricted motion of the neck due to fused cervical vertebrae with the incidence of 1:42,000 live births1,2. The etiology is presumed to involve in PAX gene family mutation defect and Notch signaling pathway. KFS patients are classified into 3 types based on the location of fusion; Type 1 patients have a single congenitally fused cervical segment; Type 2 patients show multiple non-contiguous, congenitally fused cervical segments; and Type 3 patients show multiple contiguous, congenitally fused cervical segments. In 1974, Hensinger et al studied 50 KFS patients aged 4 to 34 years and their associated anomalies. The findings revealed less than half had the classic triad of findings, more than half had scoliosis and a third had renal anomalies. All patients were at risk of having other serious anomalies such as Sprengel's deformity, hearing impairment, synkinesia and congenital heart disease.
The current literature focused on isolated case reports suggested an awake fiberoptic intubation as a safest option to secure airway in adult patient with KFS. For pediatric patients with KFS, their airway management could be challenging, there is no literature report describing unsuccessful or difficult mask ventilation or LMA insertion. Bakan et al reported an overview of direct laryngoscopy for tracheal intubation in KFS patients aged 26 days to 16 years old, 18 of 25 cases were successfully intubated by direct laryngoscope (DL). From 13 literatures reviewed by Bakan et al, there is no report of an unsuccessful DL in children with KFS younger than 4 years. Despite the formidable appearance for airway management, recent pediatric data encourage the anesthesia providers to perform DL instead of fiberoptic intubation. However, a successful DL event in anesthesia history record does not guarantee an ease of next DL event because the airway of KFS patients are progressively worse over time.
The investigators propose a retrospective electronic chart review of patients with KFS who had undergone general anesthesia in Boston Children's Hospital from June 2012 to June 2018. The purpose of this study is to review the airway management techniques of pediatric patients with KFS and provide recommendation of airway management for these patients. A retrospective electronic chart review will be conducted by using Boston Children's Hospital (BCH) database, which identified patients with KFS who had undergone general anesthesia from June 2012 to June 2018.
The investigators hope to provide specific anatomical abnormalities and age of pediatric patients with KFS to suggest they are at risk of difficult airway. Finally, the investigators hope this information can be used to suggest a proper choice of airway management for specific type and age group of KFS patients.
Study design
- Observational model
- Cohort
- Time perspective
- Retrospective
Who may qualify
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- Study population
- All KFS patients who scheduled for surgery at BCH from June 2012 to June 2018.
Key inclusion criteria (1 listed)
- All KFS patients who scheduled for surgery at BCH from June 2012 to June 2018.
Key exclusion criteria (1 listed)
- Patients with incomplete or absent of medical records on AIMS such as ventilation and intubation technique are not clearly document.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| VentilationThe difficult mask ventilation is defined as A) It is not possible for unassisted anesthesiologist to maintain the SpO2 > 90% using 100% oxygen and positive pressure mask ventilation in a patient whose SpO2 > 90% before anesthetic intervention; and/or B) It is not possible for unassisted anesthesiologist to prevent or reverse signs of inadequate ventilation during positive mask ventilation. | Procedure or surgery | – |
| IntubationThe difficult endotracheal intubation is defined as " It is not possible to visualize any portion of the vocal cords with conventional laryngoscopy" or when proper insertion of the endotracheal tube with conventional laryngoscopy requires more than three attempts or more than ten minutes. | Procedure or surgery | – |
Primary outcome
Prevalence of difficult airway cases among KFS is defined by using the ASA task force definition.
Time frame: We will collect data on a day of surgery from patient's arrival into their induction and intubation period, and through their postoperative period upto 1 week.
The difficult airway is defined as "The clinical situation in which a conventionally trained anesthesiologist experiences difficulty with mask ventilation, difficulty with tracheal intubation, or both".
1 secondary outcome
Specific anatomical abnormalities of KFS patients which related to difficult airway
Time frame: We will collect data on a day of surgery from patient's arrival into their induction and intubation period, and through their postoperative period upto 1 week
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 22 Apr 2026.
- Background: PubMed 25191983Hase Y, Kamekura N, Fujisawa T, Fukushima K. Repeated anesthetic management for a patient with Klippel-Feil syndrome. Anesth Prog. 2014 Fall;61(3):103-6. doi: 10.2344/0003-3006-61.3.103.
- Background: PubMed 27591474Altay N, Yuce HH, Aydogan H, Dorterler ME. Airway management in newborn with Klippel-Feil syndrome. Braz J Anesthesiol. 2016 Sep-Oct;66(5):551-3. doi: 10.1016/j.bjane.2014.03.006. Epub 2014 Apr 29.
- Background: PubMed 18929286Stallmer ML, Vanaharam V, Mashour GA. Congenital cervical spine fusion and airway management: a case series of Klippel-Feil syndrome. J Clin Anesth. 2008 Sep;20(6):447-51. doi: 10.1016/j.jclinane.2008.04.009.
- BackgroundRaj D, Luginbuehl I. Managing the difficult airway in the syndromic child. Continuing Education in Anaesthesia Critical Care & Pain. 2015;15(1):7-13.
- Background: PubMed 19299791Khawaja OM, Reed JT, Shaefi S, Chitilian HV, Sandberg WS. Crisis resource management of the airway in a patient with Klippel-Feil syndrome, congenital deafness, and aortic dissection. Anesth Analg. 2009 Apr;108(4):1220-5. doi: 10.1213/ane.0b013e3181957d9b.
- Background: PubMed 17023841Samartzis DD, Herman J, Lubicky JP, Shen FH. Classification of congenitally fused cervical patterns in Klippel-Feil patients: epidemiology and role in the development of cervical spine-related symptoms. Spine (Phila Pa 1976). 2006 Oct 1;31(21):E798-804. doi: 10.1097/01.brs.0000239222.36505.46.
- Background: PubMed 4436358Hensinger RN, Lang JE, MacEwen GD. Klippel-Feil syndrome; a constellation of associated anomalies. J Bone Joint Surg Am. 1974 Sep;56(6):1246-53.
- Background: PubMed 26381356Bakan M, Umutoglu T, Zengin SU, Topuz U. The success of direct laryngoscopy in children with Klippel-Feil Syndrome. Minerva Anestesiol. 2015 Dec;81(12):1384-6. Epub 2015 Sep 18. No abstract available.
- Individual participant dataSharing planned: Undecided. We might share individual participant data if it allows maximum use of the data.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Patcharee Sriswasdi, MD, MPH principal investigator
Boston Children's Hospital
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Klippel-Feil Syndrome, run by Boston Children's Hospital at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 1 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: under way, not looking for participants, as of the sponsor's last update on 22 Apr 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Prevalence of difficult airway cases among KFS is defined by using the ASA task force definition. (time frame: We will collect data on a day of surgery from patient's arrival into their induction and intubation period, and through their postoperative period upto 1 week.). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT03741790, which also lists 8 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 22 Apr 2026.