Cure CMD » anne_rutkowski

Dear Future Physician

anne_rutkowski — Mon, 19 Mar 2012 17:22:14 +0000

Watch Ann Schrooten, CMD mom, deliver a simple and eloquent message to future physicians as part of a medical education program she developed called Touchstones of Compassionate Care

Click here

Cure CMD, LGMD2I Fund and TREAT-NMD/Newcastle: Teaming Up to Prepare for LGMD2I Trial

anne_rutkowski — Mon, 30 Jan 2012 06:41:04 +0000

Cure CMD, LGMD2I Fund and Newcastle office are teaming up to prepare for an LGMD2I clinical trial.

First step, harmonizing registries. If FKRP, please register in www.fkrp-registry.org If any other aDG-RD gene involved or unknown, please register in CMDIR, www.cmdir.org

FKRP and CMDIR Registries: Working Together

anne_rutkowski — Mon, 30 Jan 2012 06:38:52 +0000

Cure CMD, the LGMD2I Fund and the Newcastle TREAT-NMD office announce a collaboration to promote clinical trial readiness for LGMD2I. In anticipation of an LGMD2I clinical trial, we are working to align the 2 existing registries, one specific for FKRP and one for each of the other CMD-LGMD alpha dystroglycan related dystrophy (aDG-RD, dystroglycanopathy) genes. To launch a specific LGMD2I trial, we will need to have all FKRP patient information in one location, the FKRP international registry.

We would like to ask all people with confirmed FKRP mutations to register in the international FKRP registry (www.fkrp-registry.org). We would like to ask all people with a confirmed mutations in each of the other aDG related genes, including POMT1, POMT2, POMGnT1, DAG, LARGE and fukutin and those without a genetic diagnosis to register in the CMD International Registry (CMDIR-www.cmdir.org).

Both registries will continue to work together to provide registrants with the same up to date information on clinical studies and trials in the aDG-RDs. We believe that strides made in clinical trial readiness for the LGMD2I population will have significant impact for the larger group of patients with alpha-dystroglycan related dystrophies (aDG-RDs). We would like to thank all who have currently registered and encourage registrants to fully complete the survey questions.

New Year’s Challenge Brings in $25,000 for CMD research

anne_rutkowski — Mon, 23 Jan 2012 05:56:35 +0000

2012 is starting off with a bang- $14,910 raised in response to a $10,000 challenge by Cure CMD’s Chair, Anne Rutkowski, nets $25,000 for research!

Consider setting up a monthly donation through our donation page to help us reach our 2012 goal to raise $500,000!!

Phoenix Team Rolls in $3240 towards CMD research

anne_rutkowski — Mon, 23 Jan 2012 05:53:41 +0000

Phoenix team led by Ann Schrooten, family and friends rolls in over $3,000 for CMD research. A big thanks to all who participated!

Cure CMD Funding Priorities for 2012

anne_rutkowski — Wed, 28 Dec 2011 00:09:59 +0000

Cure CMD 2012 Funding: CMDIR Project Manager, the Myomatrix 2012 Scientific Conference, an LMNA-CMD iPS cell line and CMD Comparative Outcome Measure Study (CMD COM-Year 3).

Cure CMD funds $245,000 in CMD research in 2012!

anne_rutkowski — Wed, 28 Dec 2011 00:04:33 +0000

Cure CMD announces 2012 Grants for research in LMNA-RD (Lamin A/C related dystrophy), LAMA2-RD (Laminin alpha 2 related dystrophy), COL6-RM (Collagen VI related myopathy) and aDG-RD (alpha dystroglycan related dystrophy).

Cure CMD teams up with LGMD2iFund to develop antibodies for aDG-RD

anne_rutkowski — Tue, 27 Dec 2011 23:37:56 +0000

The project led by Professor Glenn Morris and Dr. Sue Brown with assistance from Dr. Andrea Brancaccio will use 3 distinct approaches to develop additional antibodies to stain the protein αDG in the muscle membrane. The currently available antibody to stain αDG is an antibody, called IIH6, to an unknown αDG epitope that recognizes the binding site of laminin alpha 2 to αDG. Dr. Kevin Campbell has recently donated the hybridoma, or cell clone that makes IIH6 to the Iowa University Hybridoma Bank for general distribution. The commercially available form of IIH6 can be obtained from Millipore. While developing antibodies that recognize αDG both for diagnostic purposes and research has been tried without success in past, one hopes that this collaborative multi-faceted approach may yield new antibodies.

Cure CMD 2012 Grant Funding

anne_rutkowski — Tue, 27 Dec 2011 23:34:27 +0000

William Cruikshank, PhD (Boston University) received $25 K two year grant award to study breathing issues in the DyW mouse model of LAMA2-CMD (MDC1A, Merosin Def CMD). The 2 main goals of this study are to investigate whether the mouse model suffers from progressive breathing problems and thus models human disease and whether a pharmacologic treatment, NBD (an NKFκB inhibitor) shown to improve the disease in mouse also improves breathing parameters. In addition, the study will evaluate smooth muscle involvement of the airways in the animal model.

James Dowling, MD, PhD (University of Michigan) receives $35K for one year of funding to evaluate 2 stable CMD zebrafish models, the LAMA2-CMD model (caf) and recently created COL6-RM model. Dr. Dowling’s study will evaluate both models thoroughly, creating an open access database to enable sharing of his data in these and other congenital muscle disease zebrafish models (RYR1-RM and MTM) with the global scientific community. Both the caf and COL6 zebrafish model will undergo medium throughput screening using the FDA approved Prestwick drug library to identify classes of drugs that highlight new mechanisms to target and potential therapies. Dr. Dowling just completed published work in the nebulin and ryanodine receptor zebrafish models.

Gisele Bonne, PhD (INSERM, France) receives $40K two year annual award to study a new gene therapy approach called RNA trans-splicing in 2 models of LMNA related dystrophy. Dr. Bonne originally identified the LMNA gene and has created two models: one replicating Emery Dreifuss muscular dystrophy and the other, replicating LMNA-CMD. The study aims to investigate whether this type of gene therapy that targets RNA, not DNA, provides a lasting correction to the 2 mouse models.

Kennedy’s Story

anne_rutkowski — Sat, 03 Dec 2011 21:16:20 +0000

When Kennedy was three she had slight difficulty climbing stairs and fell a lot. She also walks on her tiptoes. It was hard to let doctors see this in an office setting. We started out ruling out a slight cerebral palsy, also wore AFO’s thinking she was just a tippy toe walker. I was told she had tight heel cords.
After pursuing it and having multiple office visits we had a CK test that was slightly elevated. This initiated an EMG where they stick a big needle in your thigh and it showed severe muscle weakness. The next step was a muscle biopsy. The surgeon talked of how great and pink the muscle was and how good her muscle contractility was and how he didn’t have microscopic eyes but he would be surprised if it showed anything.

It turned out to be a “rare and interesting case” as the muscle biopsy was interpreted as mitochondrial myopathy. We were diagnosed by age 4. We thought she just had generalized muscle weakness and she can’t skip, jump, hop, run, or climb without difficulty or falling. Otherwise, she looks and acts normal in every way.

Since then, we have jumped through hoops testing for all kinds of rare muscular dystrophies. We ruled out calpainopathy, caveolinopathy, Rigid Spine muscular dystrophy and we finally got our diagnosis of Bethlem myopathy.

This is what we have learned about Bethlem myopathy. It is very rare with only about 100 known cases. It causes contractures of ankles, knees, elbows and fingers. Kennedy will most likely have to have a heel cord surgery eventually to help her walk better and not fall. The heart is NOT affected. The diagram can be and she should be monitored for flu/pneumonia because she may not have enough muscle strength to cough anything up. In the fifth decade of life about 2/3 of patient require walking aids like canes or wheelchairs.

We are not sure of the impact of this finding on my other kids or their kids yet. I do know Kennedy has a 50/50 chance of passing it on to her kids. This is a slowly progressive MD so if you have to have one I guess this would be a better one to have. Even though this all sucks…we all know it could be worse.

Hopefully now that I have a name and some closure I can focus on what best helps her with all of this. We do weekly physical therapy and occupational therapy that I feel has helped her to swing, hop and skip better. She cannot over do any physical activity as she fatigues easily. She also cannot walk long distances. We have an adaptive stroller for this. After years of testing we finally got our diagnosis changed to Bethlem myopathy December 2010.