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NEWS & UPDATES

TRIALS & STUDIES


Clinical Trials

If you are interested in taking part in a current or potential trial or study, it is important to let the doctors taking care of you know this – preferably your neuromuscular consultant or neurologist. They will let the centre/hospital conducting the trial know of your interest. It is sometimes possible the contact a centre and let them know yourself too, and they will then contact your local team.

This clinicaltrials.gov webpage will be updated whenever a new trial or study is approved and a centre or centres appointed.

Definition: a Clinical Trial is when a medical treatment, strategy or device is tested to see if it is safe and effective to use in affected patients.


AT132 for X-Linked Myotubular Myopathy – ASPIRO

Status: Active, recruiting

Audentes Therapeutics, the San Francisco based biotechnology company have taken virus mediated gene therapy to clinical trial. Preliminary Results were encouraging and published in January 2018. Read the latest press release from Audentes Therapeutics here Read about this trial on clinicaltrials.gov Read more about Myotubular Trust’s grant awards to Dr Ana Buj Bello, who established proof of principle for this gene therapy. The first myotubular myopathy patient was dosed in this gene therapy clinical trial in September 2017.

Update 14.5.19 : What is the status of enrollment for ASPIRO?

ASPIRO is actively enrolling patients. Each clinical trial site maintains a wait-list which they manage for patients interested in participating in the clinical trials. These sites continue to evaluate potential patients on these wait-lists based on the protocol criteria and in case there is a future need to enroll more patients into the clinical trials in the case that regulators require this. In addition to the inclusion/exclusion criteria listed on clinicaltrials.gov, each clinical trial site may have additional considerations, such as capacity at their site. The overall number of patients in the clinical trial is also limited.

Gene Therapy, the first treatment candidate for XLMTM, is explained here on the ASGCT website and in an educational video.

 


DYN101 for X-Linked Myotubular Myopathy (MTM1) and Autosomal Dominant Centronuclear Myopathy (DNM2) – UNITE-CNM

Status: Not yet active

The MHRA (UK regulatory authority) have approved Dynacure’s Clinical Trial Application for DYN101 – an antisense product in development for centronuclear myopathy.

Dynacure expect to start a Phase 1/2 clinical trial – ‘Unite-CNM’ in the second half of 2019.  This will be a European multi centre, ascending dose study to evaluate DYN101 for:

– safety
– tolerability
– pharmacokinetics (how the drug works around the body)
– preliminary efficacy (the effect on MTM and CNM symptoms).

See the latest update from Dynacure.

When this trial is active, it will be on https://clinicaltrials.gov/ct2/home and https://www.clinicaltrialsregister.eu/

To read more about DNM2 antisense treatment and the grants made for this work by the Myotubular Trust

 


Natural History Studies

Definition: A Natural History Study follows a group of patients over time, to better understand how they are affected by a condition.


Prospective Natural History Study of Patients With Myotubular Myopathy and Other CentroNuclear Myopathies (NatHis-CNM) MTM1, DNM2 & BIN1

Read about this study on clinicaltrials.gov     Status: Recruiting


Prospective, Longitudinal Study of the Natural History and Functional Status of Patients With Myotubular Myopathy (MTM) 2014 – 2017

Read about this study on clinicaltrials.gov     Status: Completed


A Medical Chart Review of Patients With X-Linked Myotubular Myopathy (XLMTM) – RECENSUS

Read about this study on clinicaltrials.gov     Status: Recruiting


A Clinical Assessment Study in X-Linked Myotubular Myopathy (XLMTM) Subjects – INCEPTUS

Read about this study on clinicaltrials.gov     Status: Active, not recruiting

Update 14.5.19 : What is the status of enrollment for INCEPTUS?

INCEPTUS is currently closed for enrollment and will likely remain closed for the time being as we continue to gather ongoing longitudinal data on the children currently in the study. There is a possibility, based on discussions with the regulators, that additional patients may be enrolled into INCEPTUS in a very limited manner. This will be discussed at a site to site level with the Principal Investigators (PI). Regardless, if patients and families are keen to take part in the study, they should contact their local PI and ask to be placed on the waiting list that is maintained at each site.


Other Links

Muscular Dystrophy UK Clinical trials FAQ page and information about Therapeutic development

CISCRP Patients In Clinical Trials Education page

MTM-CNM Family Connection Basic Overview of Drug Approval Process

Dr Suyash Prasad, Audentes Therapeutics Senior Vice President and Chief Medical Officer was interviewed about AT132 AAV Gene Therapy here.

American Society for Gene and Cell Therapy https://www.asgct.org/education/x-linked-myotubular-myopathy

 

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