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Max-Planck-Institut für Experimentelle Medizin

Study is closed

Welcome to the webpage of the diagnostic study:



Validation of prognostic and diagnostic markers in Charcot-Marie-Tooth disease type 1A (HMSN1A)



This is a European, AFM funded, collaboration with following Partners:


1) Coordination: Max-Planck-Institute of Experimental Medicine and Department of Clinical Neurophysiology, University of Göttingen, Göttingen, Germany (Prof. Dr. M. W. Sereda)

2) Neurogenetics group, VIB Department of Molecular Genetics, University of Antwerp, Antwerpen, Belgium (Prof. P. de Jonghe)

3) Department of Neurosciences, Ophthalmology and Genetics-Section of Neurology and Neurological Rehabilitation, University of Genova, Italy (Prof. A. Schenone)

4) Dept of Child Neurology, DNA Laboratory 2nd Faculty of Medicine, Charles University Prague, V úvalu 84, 15006 Praha 5, Czech Republik (Dr. P. Seemann, PhD)

5) Institute of Human Genetics Newcastle University Central Parkway NE1 3BZ, UK (Rita Horvath MD, PhD)

6) Centre de Référence des Maladies Neuromusculaires "Paris-Est", Institut de Myologie, Assistance Publique des Hôpitaux de Paris and Laboratoire de Neuropathologie, Centre Hospitalier Universitaire Pitié-Salpêtrière, 47 Boulevard de l'hôpital, 75651 Paris Cedex 13, France (Prof. O. Dubourg)

7) MGZ-Medizinisch Genetisches Zentrum, Bayerstraße 3-5, D-80335 München (Prof. Dr. Bernd Rautenstrauss) and Friedrich-Baur-Institut, Neurologische Klinik und Poliklinik, Labor für Molekulare Myologie, Ludwig-Maximilians-Universität, Ziemssenstr. 1, D-80336 München (Prof. Dr. Maggie C. Walter)

8) Department of Neurology, University of Münster, Münster, Germany (Prof. Dr. P. Young)

9) Service of Neurology, University Hospital “Marqués de Valdecilla” (IFIMAV) University of Cantabria, 39008 Santander, Spain (Professor José Berciano)

Charcot-Marie-Tooth-1A Disease:

The hereditary motor and sensory neuropathy or Charcot-Marie-Tooth Disease (CMT) belongs to the peripheral neuropathies. It has a prevalence of ~ 1:2500 and is the most common monogenetically inherited neurological disease in humans (Parman, 2007) (Nave et al., 2007) (Pareyson et al., 2009). Approximately 50% of CMT patients suffer from the subtype 1A (CMT1A). This type is caused by a duplication on chromosome 17p11.2-12 and characterized by demyelination of peripheral nerve fibres, axonal degeneration and muscle fibre atrophy. The clinical symptoms vary, even in twins, and may include wheelchair-dependence. An effective therapy is not available yet.

Aim and purpose of the study:

In this study we will examine, whether certain disease markers ('biomarkers') in the skin of CMT1A patients could help to diagnose not only the severity of the disease, but also the course of it. At the Max-Planck-Institut für Experimental Medicine in Göttingen/Germany it was shown that certain molecular characteristics in skin biopsies of an animal model of CMT1A (`the CMT rat) correlate to the disease severity (disease markers).

In the current study (in a Europe-wide consortium with partners from the UK, France, Spain, the Czech Republik, Italy, Germany  and Belgium) we will investigate whether we can “translate” these findings from the animal model to patients suffering from CMT1A. For this reason, we will determine a disease parameter ('CMTNS') which includes a full neurological examination. Aim of the study is to find a correlation between molecular and histological findings in the skin biopsy and disease parameters ('CMTNS'). The results will enable us to get further insight into the mechanisms, severity and course of CMT1A. Importantly, by identifying disease markers (“Biomarkers”) we will facilitate future therapeutic trials and also contribute  to the diagnosis by histological analysis of the skin biopsies.

Relevant examinations:

All examinations will be performed within approximately 3 to 4 hours on one day. At the beginning of the appointment the patients will be thoroughly informed about this study, which is pain-free, without medication-intake and with little risk. Aims and purpose of the study will be discussed as well as possible risks and the personal situation of the participant.
In order to take part in the study, it is obligatory to sign the agreement to participate. Apart from that, every patient will be asked to fill in a questionnaire about his/ her quality of life (SF-36 and VAS) and to participate in the following examinations:

  • neurological examination
  • electrophysiology
  • basic medical examinations
  • 10 m walking test
  • strength measuring with a dynamometer on arms and legs
  • 9-peg-hole-test, fine motor skills

At the end of the examination, a 3mm skin biopsy will be performed under local anesthesia on the lateral side of the index finger. The wound will be pin-point size (3x3mm), does not require sutures and will most probably not create a scar. Skin biopsies are performed with a special punch device that is clinically proven and decreases side-effects. Nevertheless, we cannot rule out infection, inflammation or prolonged bleeding/ wound healing time.

Including criteria:

  • informed consent to participate
  • genetical evidence of CMT subtype 1A
  • clinical manifestation of CMT1A
  • no fulfillment of any exclusion criteria

Exclusion criteria:

  • other neurological diseases; present or past
  • age < 18 years 
  • internal or psychiatric disease
  • drug-, medication- and/or alcohol abuse
  • receptive or global aphasy (deficiency of speaking or understanding)
  • participation in another clinical study within the last 8 weeks

Withdraw from the Trial:

Of course, it is possible for patients to withdraw the consent to participate at any given time without mentioning reasons. In case of withdrawing the consent to participate, there will be no negative effects whatsoever regarding the patients.

Data Privacy:

All data will be pseudonymised and scientifically evaluated. This means, the results cannot be associated with any personal data, in order to rule out an identification of study participants. All necessary regulations of data privacy are taken into account.

The participation is voluntarily. There is a right to not participate. it is possible for patients to withdraw the consent to participate at any given time without mentioning reasons.


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