Vertical Expandable Prosthetic Titanium Rib (VEPTR) for Thoracic Insufficiency Syndrome
Condition: Thoracic Insufficiency Syndrome (TIS)
MeSH terms: Syndrome
Study type: Observational

Summary: 
      The hypothesis of the study is that individuals with poor pulmonary function secondary to TIS
      will benefit from expansion thoracoplasty. The investigators specific aims are to:

        1. Record pulmonary function and thoracic volume of TIS patients at enrollment and with
           serial observation

        2. Offer expansion thoracoplasty therapy to TIS patients with

             1. poor pulmonary function at enrollment

             2. progressive decline in pulmonary function

             3. progressive chest wall and/or spinal deformity

             4. lack of appropriate increase in thoracic volume during growth

        3. Document efficacy of expansion thoracoplasty for TIS patients
    

Detailed description: 
      Study procedures

        1. Patient Identification & Enrollment Patients meeting the inclusion criteria will be
           invited to enroll in the study as described above.

        2. Serial clinical observation

           Patients will be followed over time for progression of thoracic insufficiency
           indicators:

             -  Worsening respiratory status oFrequent respiratory infections oElevated resting
                respiratory rate oEase of fatigability oHypoxia and hypercapnia oMarionette sign
                (trunk and shoulder elevation and depression with respiration)

             -  Primary diaphragmatic breathing (loss of chest wall mobility)

             -  Progressive scoliosis

             -  Failure of thoracic dimensions to increase with growth

           Patients with progressive thoracic insufficiency will be offered surgical intervention
           with expansion thoracoplasty utilizing the VEPTR device.

           Studies which are standard of care for TIS will be utilized to assess patients. Routine
           standard of care studies will be obtained:

             1. MRI of the spine will be obtained at presentation.

             2. Chest CT scan (every 2 years, or less frequently if clinically indicated)

             3. AP/Lat spine xrays (to include the chest wall)

             1. Will be obtained every 6 months - 12 months

             2. If a patient has a VEPTR implantation, the typical schedule of radiographs would
                include immediate postoperative xrays (the day of surgery and/or early
                postoperative period) and at 6 weeks, 12 weeks, and 6 months postoperative.

             3. VEPTR lengthening will typically take place every 6 months after the initial VEPTR
                implantation.

           i.Xrays will be obtained every 6 months in association with the VEPTR lengthening.

           ii.Once VEPTR lengthening is no longer clinically indicated, the patients will be
           followed with xrays every 6-24 months until skeletal maturity.

           d.Pulmonary function tests (spirometry) will be obtained every 6-12 months in children
           who are old enough to participate (typically > age 4 years).

           e.Arterial and/or capillary blood gases

           a.Blood gases will be obtained every 6-12 months if clinically indicated and
           perioperatively for VEPTR implantation / lengthening.

           f.Routine vital signs including resting pulse oximetry (SaO2)

           a.Will be assessed at clinic visits and perioperatively g.All of the above mentioned
           studies will be obtained more or less frequently as clinically indicated.

        3. Expansion thoracoplasty with VEPTR implantation and subsequent lengthening with the
           VEPTR will be performed following informed consent. The surgical technique will be as
           described by Campbell.3 The VEPTR device will be lengthened at 6 to 12 month intervals
           until thoracic and spinal deformities have stabilized radiographically.
    

Intervention name(s): Synthes VEPTR (Vertical Expandable Prosthetic Titanium Rib)
Intervention type(s): Device
Observational model: Cohort
Time perspective: Prospective
Sampling method: Non-Probability Sample
Study population: 
        Pediatric patients, age range from 6 months to 17 years with thoracic insufficiency
        syndrome (TIS). Categories of TIS include:

          1. Flail chest syndrome

          2. Constrictive chest wall syndrome (rib fusions and scoliosis)

          3. Hypoplastic thorax syndrome (Jeune's syndrome, achondroplasia, Jarcho-levin syndrome,
             Ellis van Creveld syndrome)

          4. Progressive scoliosis/kyphosis of congenital, neurogenic, or idiopathic origin without
             rib anomaly

          5. Early onset scoliosis without rib anomaly at high risk for progression