Clinical studies and trials

GNE myopathy Disease monitoring program: A Registry and Prospective Observational Natural History Study to Assess GNE myopathy. The GNE-M DMP program collects and combines disease specific data from patients and doctors participating in a GNE-M patient registry and natural history study. This structure allows to gather comprehensive data about the disease and to perform better analysis of the data.

The GNE Natural history study

This is part of the GNE-M DMP program and is an ongoing multi-center, multi-national longitudinal study to collect prospective data in adults with GNE myopathy. The Natural history study is currently recruiting in Canada, USA and Europe. In this study we assess quality of life, perform various muscle tests and analyse serum biomarkers to assess natural progression of the disease. No investigational agents (e.g. medications) or experimental interventions are administered to patients as part of the Natural history study.

If you are interested to know more about the study, please contact us:

In the UK and Europe: (Newcastle University) Professor Hanns Lochmuller and Dr Oksana Pogoryelova
In USA
: Brian Minton tel: +01 714 456 8520
In Canada
: (at McMaster University, Hamilton, ON) Professor Mark Tarnopolsky and Erin Hatcher
In France:
(Association Institut de Myologie - Paris) Professor Anthony Behin tel: +33 142 16 37 73
In Bulgaria:
(Bulgarian Neuromuscular Disease Association) Professor Ivailo Tournev te: +35 929 23 06 70

Patient experience and testimonials

Jackie participated in the study and this is what she thinks: ”I am taking part in GNE myopathy natural history study in Newcastle. I have had HIBM for about 15 years and the research in this area, I feel is very important. It helps the study team to know how I function on a daily basis and how this muscle disease is progressing”.

Phase 3 Randomized, Double-Blind, Placebo-Controlled Study to Evaluate Sialic Acid in Patients With GNE Myopathy (GNEM) or Hereditary Inclusion Body Myopathy (HIBM)

This study is ongoing, but not recruiting participants

Ultragenyx Pharmaceutical Inc. is announcing the launch of a Phase 3 SA-ER (Aceneuramic Acid Extended Release) Clinical Trial. A Phase 3 clinical study is scheduled to start soon in people with GNE Myopathy also known as HIBM). The study will start this spring.

The Phase 3 study will gather more information about the safety and effectiveness of Aceneuramic Acid (sialic acid extended release) in a larger number of people affected by GNE Myopathy. Preliminary studies (Phase 2) have shown that Aceneuramic Acid is safe to use and that people with GNE Myopathy may benefit from the treatment.  All patients in the study (Phase 3) will be randomly assigned to a treatment (Aceneuramic Acid) or placebo (sugar pill) group in a double blinded fashion.  This means that neither a study participant nor a doctor would know whether the patient is on Aceneuramic Acid or placebo. The study will last for approximately 1 year.

The study will take place in selected centres in USA, Canada, Europe and Israel.

At a minimum, patients should be aged between 18-55 and have a documented diagnosis of GNE Myopathy/HIBM (confirmed through genetic testing).  A complete eligibility is available at www.clinicaltrials.gov/ct2/show/NCT0237792.  A person should be able to walk about 200 meters in six minutes without using a cane, crutches, walker or other assistive devices.  Ankle foot orthoses are allowed. Generally, most people who walk while grocery shopping can complete the six minute walk test.  Other inclusion criteria will be explained to you by the study doctors.  If you think you meet the inclusion criteria, you should discuss the possibility of taking part in this study with your doctor. If you and your doctor decide the study might be right for you, you should contact the closest centre to schedule a screening visit. This means that you if meet physiotherapy inclusion criteria you can be offered a place in the Phase Ill study. At the screening visit potential participants will be assessed for eligibility to participate in the clinical study.

Sign up to receive information at www.gnem-dmp.com and you will receive updates when the study is open for enrolment.

A Study to Evaluate the Safety of Aceneuramic Acid Extended Release (Ace-ER) Tablets in GNE Myopathy (GNEM) (Also Known as Hereditary Inclusion Body Myopathy (HIBM)) Patients With Severe Ambulatory Impairment

This study is currently recruiting participants

This is an open-label multi center study to evaluate the safety of Aceneuramic Acid Extended Release (Ace-ER) Tablets for patients with GNE Myopathy.The primary objective of this Phase 2 study is to evaluate the safety of open-label 6 g/day Ace-ER in patients with GNE Myopathy with severe ambulatory impairment. The study will also assess efficacy to ensure that the full spectrum of patients with GNE Myopathy are evaluated.

Participants should be aged 18 years old and over and have a documented diagnosis of GNE Myopathy, HIBM, distal myopathy with rimmed vacuoles (DMRV), or Nonaka disease due to previously demonstrated mutations in the gene encoding the GNE/MNK enzyme (genotyping will not be conducted in this study).  Participants will be required to provide written, signed informed consent after the nature of the study has been explained, and before any research-related procedures are conducted

A person should be unable to rise from a seated position to standing without help from another person, assistive device(s), stationary object, or other support.  They should also be unable to walk without the assistance of another person OR if able to walk (use of assistive device(s) permitted), requires at least 2 minutes to walk 40 meters (one full lap of the 6 minute walk test course).  Participants should meet the criteria for severe ambulatory impairment as defined in full at https://clinicaltrials.gov/ct2/show/NCT02731690.

If you think you meet the inclusion criteria, you should discuss the possibility of taking part in this study with your doctor. If you and your doctor decide the study might be right for you, you should contact the closest centre to schedule a screening visit.  The study will take place at sites in the United States of America, Bulgaria and Canada (Full list of study sites available at https://clinicaltrials.gov/ct2/show/NCT02731690).

Sign up to receive information at www.gnem-dmp.com and you will receive updates when the study is open for enrolment.


 
12 Apr 2017