HNPP Study Available for HNF Members

by | Dec 19, 2016 | 27 comments

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.

Learn more on this topic

Related Blog Posts

Double Your Donation

Corporate matching gift programs are charitable giving programs setup by corporations in which the company matches donations made by employees to eligible nonprofit organizations. For example, if a donor works for Bank of America and donates $100 to the Hereditary Neuropathy Foundation, Bank of America will double the donation by also writing a check for $100.

Taking Matters Into Your Own Hands

Do you have a rare form of CMT?

We were contacted recently from a patient with CMT2D who was looking for advice on how to make a difference. Our recommendations for all people with an ultra-rare form of CMT who want to get involved:

Now GRIN is Accessible in 141 Different Languages!

Now GRIN is Accessible in 141 Different Languages!

The Global Registry for Inherited Neuropathies (GRIN) has implemented Google Translate. Why did we choose Google? Because Google is leading the way in teaching computers how to interpret meaning, avoiding the traditional method of decoding language.

Accelerating Patient Access to Investigational Drugs in 2015

Accelerating Patient Access to Investigational Drugs in 2015

Currently the FDA is working to update the process for physicians applying for accelerated patient access to investigational drugs, while the drug or biological product is being tested in clinical trials. This will also be important for the CMT community as clinical trials for this disease are being launched.

Do You Have Charcot-Marie-Tooth Type 4 (CMT4)? – We Need Your Help

Autosomal recessive demyelinating CMT4 patients present with earlyonset and slowly progressing symptoms. These include progressive distally accentuated weakness and atrophy of muscles in the lower limbs. In addition, patients may have weakness and atrophy of hands, sensory loss and pes cavus (high-arched feet), and walking difficulties. Further information on CMT4 can be found at Orphanet.

Hot Off the Press – Potential Treatment for CMT1A

Two recent publications from Pharnext describe a novel synergistic combination of 3 drugs (baclofen, naltrexone and sorbitol) and its effect on CMT1A both in the lab and in a phase II clinical trial. These 3 drugs already approved but for unrelated conditions, are combined at new optimal lower doses and under a new formulation. This novel potential therapeutic is called PXT-3003.

Support CMT Therapeutic Alliance

HNF has entered into a joint venture – the CMT Therapeutic Alliance – with a unique non profit organization (BioPontis Alliance for Rare Diseases) that brings professional drug discovery capabilities to translate our research results into potential treatments.

Scientific Advisory Board Meeting

Scientific Advisory Board Meeting

On the 7th of November we convened our scientific advisory board meeting at the HNF offices in NY. We have written a detailed review that has been published and captures all of the discussion and make this freely available to the scientific community.

Join the conversation

Leave a Comment


  1. Kristina

    I am a 35 year old American female with HNPP/CMT1A. They are one and the same. U was just diagnosed late summer of 2017. I wish I was diagnosed in time for this study. My palsies last for months. This last attack forced me to endure palsies for almost 2 years straight and the daily exhaustion is totally debilitating. There are about 326,000,000 people in the USA and about 15,000 of us have HNPP here in America. Very small percentage of the population.

  2. Ann Thurston

    I have hypermobility and a multitude of neuropathic symptoms. I suspect I may have HNPP. How do I get diagnosed? Insurance doesn’t cover genetic testing.


Submit a Comment

Your email address will not be published. Required fields are marked *


Join for notifications on events, campaigns, & news