Female carriers of x-linked myotubular myopathy invited to join a new study

A new European study, led by Dr Nicol Voermans of Radboud University Medical Centre, The Netherlands, is looking into the possible muscle symptoms in female carriers of myotubular myopathy. The study is keen to recruit as many female relatives of boys and men with x-linked myotubular myopathy as possible, plus manifesting and confirmed female carriers too.

Bhawana with Wendy and Anne from the Myotubular Trust.

Dr Voermans has a special interest and expertise in congenital myopathies and the study team consists of Professor Ulrike Schara, Essen (Germany), Professor Heinz Jungbluth, London (UK) and Dr Carsten Bonnemann, NIH (USA).

This study concerns all female relatives of boys and men with the x-linked form of myotubular myopathy whether symptomatic or not, including grandmothers, mothers, sisters, aunts and cousins, with the aim being is to visualise the entire spectrum of symptoms in carriers.

The study consists of a number of digital questionnaires which you can fill in at home. A possible follow up of this study will be performed in the future, when the coronavirus situation allows it. The follow up would consist of some simple neurological tests.

The results of the study will give a better understanding of the disease and improve the health care for female carriers. In addition, it can contribute to clinical trial preparedness.

To be able to participate in this study, you must be 18 years or older and you must be able to fill in the digital questionnaires. This study is currently limited to Europe.

If you are interested in participating and would you like to receive more information about this, email congenitalemyopathie.neuro@radboudumc.nl to express your interest.

Graduate researcher

Allison Welter from Farmington, Minnesota has recently featured in a short film about the Graduate Research Programme (GREP) at the Mayo Clinic Graduate School of Biomedical Sciences. Her younger brother Andy is a high school senior and is diagnosed with myotubular myopathy – you can read about Andy in this issue of Our World too.

Since the age of 12 Allison knew she  wanted to discover drugs and therapies to treat or cure diseases like her brother’s. Her experience includes a freshman scholarship known as the Blugold Fellowship, at University of Wisconsion-Eau Claire, a programme designed to carve out undergraduate research opportunities for students as soon as they enrol, during which she spent more than three years studying plant genome sequencing. In addition. Allison secured a summer internship at Boston Children’s Hospital and Harvard Medical School, where she assisted in a lab that studies myotubular myopathy.

Allison says ‘Doing undergraduate research at University of Wisconsin-Eau Claire helped prepare me to be more independent working here at Mayo Clinic. I felt more comfortable being an independent scientist after doing research for so long and the time in Boston allowed me to network with the amazing Harvard faculty. It was a really great experience.’

Since the film was made, Allison has moved on to her Ph.D. studies in molecular pharmacology and experimental therapeutics.

Further information

Read more about Allison below.

Kyle kayaks

Kyle Grant, who lives in the rural State of Vermont in the USA and is diagnosed with myotubular myopathy, has been enjoying adaptive kayaking.  Below, his mum Betsy tells Our World more.

Kyle in kayak.

The activity is organised and led by a physical therapist and volunteers at the Northeast Disabled Athlete Association. Funds were raised, kayaks with adaptations were purchased and a single location was found. Grant funds also greatly assisted.  The short film below gives more information about the organisation.

Each kayak has a paddle that is mounted on a fitting that goes on the front of the kayak, so the paddle never falls into the water out of reach. Floats or outriggers as they are also known, are mounted on the back of the kayaks. These ensure safety so no one can tip it over. Lastly, an accessible location with calm water was chosen.

Kyle in kayak.

A hoyer lift is used to transfer into the kayak seat. Cushions and supports are added as needed. The freedom each person has, in being able to paddle themselves out on open water, is priceless. One participant said “when I’m out here, I’m not disabled”. What a wonderful opportunity!

Kyle in kayak.

Kyle participates in this summer program once a week from late June until late August. He can bring his medical equipment with him and is not alone or far from shore. His strength improves as the weeks go by. Bright sunshine, a boating experience, a feeling of independence and normalcy, make this activity worth every bit of effort!