Pediatric Neurologist Survey

Survey to Improve Clinical Endpoints and Functional Outcome Measures
for the Pediatric CMT Patient

Recent advances for possible treatments for Charcot-Marie-Tooth (CMT) disease have set the stage for developing additional clinical trials. As we approach launching clinical trials for the pediatric CMT patient community, we seek to collect data from the thought leaders in the field to help us in our efforts to better understand the patient’s experience of living with CMT, as well as the key issues and challenges facing the professionals working with these patients such as diagnosis, disease characteristics, common symptoms, current treatment options, and risk-benefit balance for the pediatric patient and their families--especially from the perspective of the pediatric neurologist and HCP.

Your input can help us to determine pediatric diagnostic guidelines as well as future clinical trial design with ideal outcome measures and endpoints. Additionally, we would like to collect data determining quality of life trends with children and adolescents such as their ability to stand for long periods of time, climb stairs, walk distances, running, levels of pain and other daily Activities of Living (ADL’s). Your perspective on the impact CMT has on a young patient’s life is vital to moving these trials forward!

Your name will be anonymous and not shared with the public. We hope we can count on your participation in this short survey, and thank you in advance for generously sharing your time and insights with us.

Question Title

* 1. Do you help diagnose and/or take care of pediatric patients with CMT?

Yes

Question Title

* 2. Which of the following do you routinely use to evaluate your pediatric CMT patients? (Check all that apply):

Family History

Clinical Observations

Neurological Exam

EMG

NCV

Nerve Biopsy

Genetic Testing

CMT Peds Scale

CMTv2

Overall Neuropathy Limitation Score (OLNS)

SF 36

Peds QL Inventory

NeuroQual

CMTindex

Disability Severity Scale (DSI)

Hereditary Motor and Sensory Neuropathy Overall Disability Scale (HMSN-R-ODS)

Gait Analysis

Strength Testing

Balance Testing

MRI

Other (please specify)

Question Title

* 3. If you conduct strength testing, what test do you use? (Check all that apply)

MRC scale

Hand-held grip dynamometer

Isokinetic dynamometer

Digital manual muscle test (i.e.: Lafayette Instrument, Hoggan Scientific, JTech)

Please elaborate:

Question Title

* 4. If you conduct balance testing, how do you assess balance? (Check all that apply)

Tandem walking

Heel-toe walking

Timed walking

Subject walking with eyes closed

Single leg stance (timed)

BESS

Pediatric Balance Scale/Berg

TUG

4 Square

Other (please specify)

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* 5. If family history warrants, do you recommend genetic testing for other family members?

Yes

Other (please specify)

Question Title

* 6. If you do genetic testing for CMT, which type of labs do you use? Check all that apply (this will be used for our internal purposes)

Commercial Lab

University Lab

Contracted Research Lab

Other (please specify)

Question Title

* 7. If you answered YES to conducting genetic testing, which type(s) of CMT do your pediatric patients have? (Please rank in order according to prevalence)

CMT1

CMT2

CMT3

CMT4

CMTX

Unknown variant

Question Title

* 8. What percentage of your CMT pediatric patients have these specific characteristics?

	None	<25%	25-50%	50%	50-75%	>75%	100%
Hand muscle weakness	Hand muscle weakness None	Hand muscle weakness <25%	Hand muscle weakness 25-50%	Hand muscle weakness 50%	Hand muscle weakness 50-75%	Hand muscle weakness >75%	Hand muscle weakness 100%
Carpal tunnel syndrome	Carpal tunnel syndrome None	Carpal tunnel syndrome <25%	Carpal tunnel syndrome 25-50%	Carpal tunnel syndrome 50%	Carpal tunnel syndrome 50-75%	Carpal tunnel syndrome >75%	Carpal tunnel syndrome 100%
Forearm muscle weakness	Forearm muscle weakness None	Forearm muscle weakness <25%	Forearm muscle weakness 25-50%	Forearm muscle weakness 50%	Forearm muscle weakness 50-75%	Forearm muscle weakness >75%	Forearm muscle weakness 100%
Ankle weakness (foot drop)	Ankle weakness (foot drop) None	Ankle weakness (foot drop) <25%	Ankle weakness (foot drop) 25-50%	Ankle weakness (foot drop) 50%	Ankle weakness (foot drop) 50-75%	Ankle weakness (foot drop) >75%	Ankle weakness (foot drop) 100%
Hand contractures/deformities	Hand contractures/deformities None	Hand contractures/deformities <25%	Hand contractures/deformities 25-50%	Hand contractures/deformities 50%	Hand contractures/deformities 50-75%	Hand contractures/deformities >75%	Hand contractures/deformities 100%
Foot contractures/deformities	Foot contractures/deformities None	Foot contractures/deformities <25%	Foot contractures/deformities 25-50%	Foot contractures/deformities 50%	Foot contractures/deformities 50-75%	Foot contractures/deformities >75%	Foot contractures/deformities 100%
Loss of feeling or abnormal sensation in hand/forearm	Loss of feeling or abnormal sensation in hand/forearm None	Loss of feeling or abnormal sensation in hand/forearm <25%	Loss of feeling or abnormal sensation in hand/forearm 25-50%	Loss of feeling or abnormal sensation in hand/forearm 50%	Loss of feeling or abnormal sensation in hand/forearm 50-75%	Loss of feeling or abnormal sensation in hand/forearm >75%	Loss of feeling or abnormal sensation in hand/forearm 100%
Loss of feeling or abnormal sensation in lower leg/foot	Loss of feeling or abnormal sensation in lower leg/foot None	Loss of feeling or abnormal sensation in lower leg/foot <25%	Loss of feeling or abnormal sensation in lower leg/foot 25-50%	Loss of feeling or abnormal sensation in lower leg/foot 50%	Loss of feeling or abnormal sensation in lower leg/foot 50-75%	Loss of feeling or abnormal sensation in lower leg/foot >75%	Loss of feeling or abnormal sensation in lower leg/foot 100%
Problems with balance	Problems with balance None	Problems with balance <25%	Problems with balance 25-50%	Problems with balance 50%	Problems with balance 50-75%	Problems with balance >75%	Problems with balance 100%
Pain in back	Pain in back None	Pain in back <25%	Pain in back 25-50%	Pain in back 50%	Pain in back 50-75%	Pain in back >75%	Pain in back 100%
Pain in hand/forearm	Pain in hand/forearm None	Pain in hand/forearm <25%	Pain in hand/forearm 25-50%	Pain in hand/forearm 50%	Pain in hand/forearm 50-75%	Pain in hand/forearm >75%	Pain in hand/forearm 100%
Pain in lower leg/foot	Pain in lower leg/foot None	Pain in lower leg/foot <25%	Pain in lower leg/foot 25-50%	Pain in lower leg/foot 50%	Pain in lower leg/foot 50-75%	Pain in lower leg/foot >75%	Pain in lower leg/foot 100%
Muscle cramps or spasms in hand/forearm	Muscle cramps or spasms in hand/forearm None	Muscle cramps or spasms in hand/forearm <25%	Muscle cramps or spasms in hand/forearm 25-50%	Muscle cramps or spasms in hand/forearm 50%	Muscle cramps or spasms in hand/forearm 50-75%	Muscle cramps or spasms in hand/forearm >75%	Muscle cramps or spasms in hand/forearm 100%
Muscle cramps or spasms in lower leg/foot	Muscle cramps or spasms in lower leg/foot None	Muscle cramps or spasms in lower leg/foot <25%	Muscle cramps or spasms in lower leg/foot 25-50%	Muscle cramps or spasms in lower leg/foot 50%	Muscle cramps or spasms in lower leg/foot 50-75%	Muscle cramps or spasms in lower leg/foot >75%	Muscle cramps or spasms in lower leg/foot 100%
Fatigue	Fatigue None	Fatigue <25%	Fatigue 25-50%	Fatigue 50%	Fatigue 50-75%	Fatigue >75%	Fatigue 100%
Curvature of the spine (scoliosis)	Curvature of the spine (scoliosis) None	Curvature of the spine (scoliosis) <25%	Curvature of the spine (scoliosis) 25-50%	Curvature of the spine (scoliosis) 50%	Curvature of the spine (scoliosis) 50-75%	Curvature of the spine (scoliosis) >75%	Curvature of the spine (scoliosis) 100%
Hip dysplasia	Hip dysplasia None	Hip dysplasia <25%	Hip dysplasia 25-50%	Hip dysplasia 50%	Hip dysplasia 50-75%	Hip dysplasia >75%	Hip dysplasia 100%
Respiratory/breathing issues	Respiratory/breathing issues None	Respiratory/breathing issues <25%	Respiratory/breathing issues 25-50%	Respiratory/breathing issues 50%	Respiratory/breathing issues 50-75%	Respiratory/breathing issues >75%	Respiratory/breathing issues 100%
Sleeping issues (e.g. sleep apnea)	Sleeping issues (e.g. sleep apnea) None	Sleeping issues (e.g. sleep apnea) <25%	Sleeping issues (e.g. sleep apnea) 25-50%	Sleeping issues (e.g. sleep apnea) 50%	Sleeping issues (e.g. sleep apnea) 50-75%	Sleeping issues (e.g. sleep apnea) >75%	Sleeping issues (e.g. sleep apnea) 100%
Tremor	Tremor None	Tremor <25%	Tremor 25-50%	Tremor 50%	Tremor 50-75%	Tremor >75%	Tremor 100%
Anxiety/fear	Anxiety/fear None	Anxiety/fear <25%	Anxiety/fear 25-50%	Anxiety/fear 50%	Anxiety/fear 50-75%	Anxiety/fear >75%	Anxiety/fear 100%
Depression	Depression None	Depression <25%	Depression 25-50%	Depression 50%	Depression 50-75%	Depression >75%	Depression 100%
Change in appearance/body image	Change in appearance/body image None	Change in appearance/body image <25%	Change in appearance/body image 25-50%	Change in appearance/body image 50%	Change in appearance/body image 50-75%	Change in appearance/body image >75%	Change in appearance/body image 100%
Vision problems	Vision problems None	Vision problems <25%	Vision problems 25-50%	Vision problems 50%	Vision problems 50-75%	Vision problems >75%	Vision problems 100%

Other (please specify)

Question Title

* 9. Is chronic pain a significant complaint in a majority of your pediatric CMT patient population?

Yes

Question Title

* 10. Where do your patients complain about pain the most?

Hands

Arms

Feet

Legs

Back

Other (please specify)

Question Title

* 11. If YES to the previous question, what types of pain and percent of patients? (Check all that apply)

	None	<25%	25-50%	50%	50-75%	>75%	100%
Neuropathic	Neuropathic None	Neuropathic <25%	Neuropathic 25-50%	Neuropathic 50%	Neuropathic 50-75%	Neuropathic >75%	Neuropathic 100%
Musculo-skeletal	Musculo-skeletal None	Musculo-skeletal <25%	Musculo-skeletal 25-50%	Musculo-skeletal 50%	Musculo-skeletal 50-75%	Musculo-skeletal >75%	Musculo-skeletal 100%
Other	Other None	Other <25%	Other 25-50%	Other 50%	Other 50-75%	Other >75%	Other 100%

Other (please specify)

Question Title

* 12. Do you prescribe physical therapy for your pediatric patients with CMT?

Yes

I do not prescribe physical therapy

Question Title

* 13. Do you prescribe occupational therapy for your pediatric patients with CMT?

Yes

I do not prescribe occupational therapy

Question Title

* 14. Do your patients experience any of the following chronically? (Check all that apply)

Tripping

Trouble running

Falling

Sprained ankles

Gait disturbances

Choking

Dexterity challenges

Pain

Other (please specify)

Question Title

* 15. Of the following list, which are the most challenging for your pediatric patients' activities of daily living? (Check all that apply)

Ankle weakness

Foot drop

Foot contractures/deformities

Loss of feeling or abnormal sensation in feet

Hand weakness

Extremity atrophy

Question Title

* 16. How many pediatric patients do you see annually with CMT?

1-5

6-10

11-15

16 or more

Question Title

* 17. What is the average age when you see pediatric CMT patients for the first time in your clinic?

1-5 years

6-10 years

11-15 years

16-18 years

Other (please specify)

Question Title

* 18. Currently, what is the average age of pediatric CMT patients in your clinic?

1-5 years

6-10 years

11-15 years

16-18 years

Other (please specify)

Question Title

* 19. On average, how often do you see your pediatric CMT patients?

Annually

Semi-annually

Quarterly

Other (please specify)

Question Title

* 20. On average, what percentage of your CMT pediatric patients have AFOs?

10%

20%

50%

Other (please specify)

Question Title

* 21. Of your pediatric CMT patients who use assistive devices, which assistive devices are they using? (Check all that apply)

Crutches

Lofstrand crutches

Rolling walker

Retro walker

Wheelchair

Cane

Other (please specify)

Question Title

* 22. Do you find that your pediatric patients are experiencing any of the following behavioral health issues?

Social isolation leading to alienation from friends

Social isolation leading to school absences

Depression

Anxiety

Unaware of any patient behavioral health issues

Question Title

* 23. What percentage of your CMT patients are not able to participate in physical education (PE) at school and/or sports?

<25%

25-50%

50%

>50%

Question Title

* 24. If they participate in PE, what percentage of your CMT pediatric patients participate in adaptive PE?

<25%

25-50%

50%

>50%

Question Title

* 25. Have any of your pediatric patients had surgery for their CMT symptoms?

Yes

Question Title

* 26. If you answered YES to the previous question, what type of surgeries have your pediatric patients had? Please explain.

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* 27. Have you recommended surgery to your pediatric CMT patients to relieve CMT symptoms?

Yes

Question Title

* 28. Are you aware of the CMT Neurotoxic Drug List, and, if YES, do you provide it to your patients and their families?

Yes, but I currently do not provide to patients

Yes, and I provide to patients

Question Title

* 29. Do you have a network to coordinate with other health care practitioners when managing your pediatric patients with CMT (i.e. physical therapists, occupational therapists, orthotists, physiatrists, surgeons, etc.)?

Yes

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* 30. Which types of other health care pratitioners do you find you typically coordinate most often with to aid pediatric patients in managing their CMT care?

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* 31. Have you ever participated in a clinical study for CMT? If YES, please check all that apply.

Natural history studies

Clinical trials

Observational/longitudinal studies

I have never participated in a CMT clinical study

Other (please specify)

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* 32. Would you be interested in being a principal investigator on a CMT clinical trial?

Yes

Question Title

* 33. How often do you think your patients (and/or their caregivers) would be willing and able to come into the clinic for a 6 month clinical trial?

Every week

Every two weeks

Every month

Every three months

Other (please specify)

Question Title

* 34. If travel reimbursement is provided, how much time do you think your pediatric patients (and/or their caregivers) would be willing to spend traveling each way to a clinical trial study site?

Up to 30 minutes each way

Up to 1 hour each way

Up to 2 hours each day

Up to 3 hours each day

More than 3 hours

Other (please specify)

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* 35. If you are not already included, would you like to be added to HNF's online Health Care Provider Directory?

Yes

Question Title

* 36. May we contact you for follow-up? Please share name and contact information in comment box below, thank you!

Yes

Contact information:

100% of survey complete.