Ayse Deniz Elmali, MD is a neurologist and a researcher. Her never-ending intellectual curiosity has led her first to Istanbul University, Cerrahpasa Medical Faculty and then to residency at the same university. Being in love with the complexity of the human nervous system, she decided to specialize in neurology. As Hippocrates wrote “Wherever the art of Medicine is loved, there is also a love of Humanity.” Acknowledging her patients as her loved ones based on that quote, she decided to devote herself to trying to improve their lives. Since CMT and related inherited neuropathies cause a huge impact in patients’ daily lives, she developed a passion to understand these diseases further in order to find better ways to cope with them.
This study, which aims to uncover the rather unrecognized symptoms of Hereditary Neuropathy with Liability to Pressure Palsy (HNPP), was born from that passion: in order to get a clearer picture of HNPP, understand the patients better and find ways to help them more efficiently. A form of peripheral neuropathy, for those with HNPP even a short period of pressure can result in tingling, numbness, weakness, pain, or even paralysis of the affected area. Symptoms and their duration are variable, with palsies lasting from minutes to days, weeks, or even months.
HNF’s members are invited to take part in a special online scientific study that hopes to uncover the unrecognized symptoms of HNPP. This scientific study, approved by the committee of the Istanbul University, Cerrahpasa Medical Faculty, is being conducted by Dr. Elmaliat Istanbul University, Cerrahpasa Medical Faculty, Neurology Department.
HNF members are being asked to participate as the control group. CMT1A and HNPP patients, as well as healthy individuals, will be asked to complete a survey, which will take 30-40 minutes to complete, and will include demographic questions and five questionnaires to collect symptom information, including:
Checklist for individual strength, fatigue.
• Epworth sleepiness scale, addressing daytime sleepiness.
• ID-Pain, addressing pain.
• Beck depression inventory, monitoring depressive symptoms.
• SF-36, measuring quality of life.
If at any point you feel uncomfortable with a question, you can skip that question or withdraw from the study altogether. If you decide to quit at any time before you have finished the questionnaire, your answers will NOT be recorded. Your participation remains completely confidential: your answers will only be used for scientific purposes and will remain anonymous.
The study outcomes will be presented in educational settings and at professional conferences, and the results may be published in a professional journal in the field of neurology. Sharing the results with other professionals promotes an enhanced understanding of what those with HNPP are experiencing and how best to treat them.
Hi there, happy to participate. I have HNPP – but the links say the survey is completed.
Thank you the survey is now closed. Keep checking back for more opportunities.
Please bring back this study or one like it. I found your website too late to get in on it.
I am a 60 yr old woman that battles this HNPP disease and there is a serious lack of information about it.
Thanks
Hi India,
Please continue to read our emails as we are coming out with studies monthly.
Hi! I have hnpp,I can participate if needed
I have Hnpp and would be interested in this please
Hi Amy,
Did you participate in the survey?
Hi there I am 47 and have HNPP as do two of my four children. I would be very interested in any studies to do with this condition. This condition although not life threatening is definitely life changing. I suffer pain on a daily basis and extreme fatigue.
Hello, my name is Kaiden Stone, I am a 45 year old male, from the U.K. I was diagnosed with HNPP a day after Christmas last year. So still getting used to it, but would like to contact more people around the world that have this condition, to learn from one and other.
My son is 14 and has CMT1a
He’s progressing faster than his father did.
I have Cmt1A,would be happy to help with study.
Thank you Angela! Please click link to participate.
I would like to help
Thank you Jennifer please click link to participate!
Can the CMTX patient take part in the study?
Gianluca,
Unfortunately it is for HNPP or CMT1A patients. Please join Global Registry for Inherited Neuropathies and we will notify of studies for HNPP.
I have HNPP and would welcome any news concerning this affliction.
I’m interested in participating in the research study for HNPP.?
Thanks Cindy. Please click link for information.
I’m willing to participate. I have HNPP. Diagnosed in 1996 after 5 years of going from doctor to doctor.
Thank you! Please click link to participate.
I have HNPP & would like to become involved with this study please!
Hi Diana,
Please click link to participate in the survey.
I have CMT1A and would welcome new treatments or knowledge of CMT.
I have cmt1a and would be glad to help