Genetic Alliance Gene Screen

Last weekend I participated in the Genetic Alliance Gene Screening films (Marfan, Power of Two, Rick Guidotti, Darius Goes West) on Thursday evening. Many of us are already familiar with Darius Goes West (DGW) so I thought I would concentrate a bit on the other films and the common threads that link all of us together. I wondered how the evening would go, sitting through 3 ½ hours of films on specific rare disease.

The films were shown at the E-Street Theater in Washington, DC. Sitting in the darkened room, popcorn in hand, the first film started. It was a film about Marfan’s disease. Like all rare disease, Marfan has a spectrum of disease and patients have typical physical characteristics. The film interviewed several families and their connections to each other. The story was amazing, not only describing the disease process, but clearly demonstrating the beauty of connecting, of working together. Individuals with Marfan have very long arms and legs and sometimes, these patients ‘wear’ their disease, often feeling isolated, alone. The film was perhaps one of the most creative I have seen, utilizing the skills of a professional dancer to teach young people with Marfan to dance, using their long limbs as expressions of individuality. You cannot help but be moved by this film and hopefully you will have an opportunity to see it on PBS.

Rick Guidotti is a professional photographer with a long career capturing the beauty, first of professional models for magazines such as Vogue. At a certain moment, Rick was captured by another beauty, a young woman with Albinism and abruptly changed his focus to portray the beauty of rare disease.

Power of Two, is a story of two young CF patients living in the United States and given new life through organ transplant. These two lovely woman are from Japan, where organ transplantation is not done for a host of reasons. They are promoting organ donation and transplantation in a country where patients are typically not given second chances.

And finally, Darius Goes West, a film about Duchenne and access and the gift of friendship. Darius was Skyped in from Atlanta – a new Darius in a way, healthier after losing considerable weight and smiling, aggressively working on his career in rap music.

Friday, I participated in a leadership seminar at the Genetic Alliance conference and ended the day as a ‘talking head’ in the debate – “Who wears the pants? Evolving power dynamics in clinical care.” The debate concentrated on CARE – basically a discussion of who is in charge. The panel consisted of:

Kemp Battle, Genetic Alliance Council
Barb Biesecker, NHGRI, NIH
Howard Levy, Johns Hopkins University
Marcia Wright, Sickle Cell Disease Association of America, Eastern North Carolina Chapter
Pat Furlong, Parent Project Muscular Dystrophy

The discussion was lively, including obstacles to care (reimbursement, liability, demands on schedule, etc.) and the need for coordinated multi-discipline teams. From my point of view, patients/family members “wear the pants,”, seeking out expertise and experience and advocate for optimal care. At the end of the day, we agreed that in the near future, well trained nurses (nurse practitioners) should take over the world to coordinate patient care …ok, so I admit this may reflect some degree of bias.


This meeting occurs every 4 years. It is pretty amazing to witness the energy and the enthusiasm in the community. This is one of a long list of meetings focused on neuromuscular diseases and because it was just on the heels of the PPMD Connect Conference in Denver, I’ll just hit the highlights and add in some thoughts along the way.

Eight years ago the meeting was in Canada, just after the 1992 PPMD Connect Conference held in Pittsburgh that year. Many of the presenters from PPMD headed directly to Canada. That year, both Steve Wilton and Judith VanDeutekom were armed with posters describing their work on exon skipping, programs funded by PPMD. Sitting in the Naples meeting, I found myself remembering those early days, when exon skipping was so far away. And now, in Naples, we were hearing results of the early studies – safety, dose escalation, and plans to move forward. Dr. Griggs discussed the upcoming steroid trials and that they have now applied for orphan status for Deflazacort. Annemieke is brilliant. I am always amazed at her ability to present data in a clear, concise, and balanced manner. Two of her colleagues from Leiden accompanied her with posters and presentations and I have to say, they too are brilliant (but I keep thinking they look like they are in high school).

• Presentations and discussion around the results, to date, of exon skipping trial, in the PMO, skipping exon 51 – 7/19 patients showed an improvement in dystrophin levels and only 3/19 patients responded strongly, with the conclusion that we may need higher doses than 20mg/kg.
• Dr. Griggs discussed the upcoming steroid trials and said they had applied for orphan drug status for Deflazacort. Finally! It is long overdue.
• Dr. Muntoni’s presentation included a discussion about the cost of therapies for rare diseases. A child diagnosed with Pompe and treated over a lifetime with Myozyme would cost an estimated $35 million dollars. Is there any wonder why advocacy is important?
• Dr. Bushby presented on Ataluren. Subanalysis suggests a trend toward benefit with low dose. Questions related to biopsy data were answered by Langdon Miller. Dr. Miller talked about the complexity of the biopsies, the number of surgeons performing the procedure, the orientation of the specimen, processing/shipping and collections to a central lab. Many of the specimens have freezing artifact. But they have not given up and will continue to work hard on the analysis in spite of the complexity.
• (poster sessions) Discussed the Dutch study on physical training in Duchenne and “no use is disuse,” as well as quality of life issues.
• Discussions around proactive cardiac care, insulin resistance and dissemination, and implementations of standards of care in Duchenne (Care Considerations).
Because there are so many meetings, and this one, just following PPMD’s Connect Conference, there was little ‘new’ news. I find that the side conversations are the most useful and I typically craft some strategic questions to ask and bring back to PPMD’s staff and scientific advisors. Questions such as:
• What do you see as gaps in clinical care?
• What do you see as barriers to therapies?
• What progress have you made in terms of measuring and validating patient-reported outcomes and do you plan to implement any of these measures as secondary outcome measures for upcoming clinical trials?
• Would it be possible to consider adding non-ambulatory patients (safety) once a registration trial was fully recruited?
• If there was one thing that you could do/change/support to move therapies forward, what would it be?
• Do you worry that there is a therapeutic misconception about what current therapies are likely to deliver?
• Do you have concern about access to emerging therapies?

And I ask for proposals, delivering them to PPMD’s leadership as we plan our strategy to End Duchenne.

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