Probing the Role of Sodium Channels in Painful Neuropathies

NCT02243475 | Unknown

• 1 other identifier: PROPANE STUDY
• Study Type: observational
• Target: 1,500
• Locations: 0 countries
• Sites: N/A

Brief Summary

Neuropathic pain is a frequent feature of peripheral neuropathy causing a significant impact on patients' quality of life and health care costs. Not all individuals with neuropathy develop pain and it is not possible to predict who is more or less susceptible among those with similar risk exposure. Current inability to identify high-risk individuals hinders development and application of therapies to counteract neuropathic pain and to address targeted prevention strategies. Recently, the investigators Consortium has identified novel pathogenic mutations in genes encoding for two sodium channels (Nav1.7 and Nav1.8) known to play a critical role in the generation and conduction of action potentials in nociceptors and their terminal axons. This study was undertaken in a carefully selected group of patients with painful neuropathy using a candidate gene approach and directly revealed targets for new therapeutic strategies. This discover widened the spectrum of sodium channel-related pain disorders including conditions more common in the general population than those known so far. PROPANE STUDY, starting from the hypothesis of a common origin of neuropathic pain in a cohort of patients with predominantly small fibre neuropathy, aims to develop this original idea in a larger and well characterized study population, to provide evidence for the reliable stratification of patients at high risk and potential new treatments tailored on patients' clinical features, in order to improve their quality of life.

Conditions

Painful Peripheral Neuropathy; Painless Peripheral Neuropathy

Outcome Measures

Primary Outcomes (1)

• Number of patients with novel mutations in the genes encoding for Nav1.7, Nav1.8, Nav1.9, Nav1.6, and Nav1.3 sodium channels

  2 years

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

homogeneous cohorts of patients (age \>18 years) with painful and painless diabetic or idiopathic sensory neuropathy

You may qualify if:

• diagnosis of sensory neuropathy, including pure small fibre neuropathy (SFN), based on established clinical, nerve conduction study (NCS) and skin biopsy findings (Tesfaye et al. Diab Care 2010) caused by
• type 1 or type 2 diabetes (World Health Organization criteria) with stable metabolic control for \>6 months (haemoglobin A1C \<9%); or
• idiopathic aetiology after ruling out all known causes of neuropathy including vitamin deficiencies, malignancies, toxic, drugs

You may not qualify if:

• any other cause of neuropathy

Sponsors & Collaborators

• Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta: lead
• Maastricht University: collaborator
• Yale University: collaborator
• University of Manchester: collaborator
• Deutsche Diabetes Gesellschaft: collaborator
• Centre National de la Recherche Scientifique, France: collaborator
• Ospedale San Raffaele: collaborator

Related Publications (2)

• Ziegler D, Strom A, Bonhof GJ, Kannenberg JM, Heier M, Rathmann W, Peters A, Meisinger C, Roden M, Thorand B, Herder C. Deficits in systemic biomarkers of neuroinflammation and growth factors promoting nerve regeneration in patients with type 2 diabetes and polyneuropathy. BMJ Open Diabetes Res Care. 2019 Nov 27;7(1):e000752. doi: 10.1136/bmjdrc-2019-000752. eCollection 2019.

  PMID: 31803481 DERIVED

• Puttgen S, Bonhof GJ, Strom A, Mussig K, Szendroedi J, Roden M, Ziegler D. Augmented Corneal Nerve Fiber Branching in Painful Compared With Painless Diabetic Neuropathy. J Clin Endocrinol Metab. 2019 Dec 1;104(12):6220-6228. doi: 10.1210/jc.2019-01072.

  PMID: 31390004 DERIVED

Biospecimen

Retention: SAMPLES WITH DNA

identification of novel mutations in the genes encoding for Nav1.7, Nav1.8, Nav1.9, Nav1.6, and Nav1.3 sodium channels

Study Officials

• Giuseppe Lauria, MD

  FINCB

  STUDY CHAIR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: September 12, 2014
• First Posted: September 18, 2014
• Study Start: September 1, 2014
• Primary Completion: September 1, 2016
• Last Updated: September 18, 2014

Record last verified: 2014-09