Cystinosis Research Network Family Conference July 16 18, 2015

Wednesday, July 15

Room

8:00 pm

Thursday, July 16

Room

"Dream, Achieve, Inspire" an Art Exhibit Artists with cystinosis from around the world have come together to share their creativity for global cystinosis awareness. More than 80 artists from 29 countries have united to bring cystinosis struggles to light. Each piece tells a story of strength and hope. The exhibit crosses language and cultural barriers in an effort to express the need for research, better treatments and in some countries access to life saving medication where there is none. "Dream, Achieve, Inspire" is an emotional journey through the hearts of those with cystinosis...Enjoy the beautiful ride!

4:00 pm

7:00 pm

Please join us for drinks and appetizers and an opportunity to meet the families and physicians attending the conference.

Snow City Arts invites you to participate in the creation of a mural representing our conference. All attendees are encouraged to add their own twist to the project that will become part of the Art Exhibit and travel the world to other cystinosis conferences. Be a part of our artistic love letter to the cystinosis community! The final piece will be unveiled at the closing party.

9:00 pm

Friday, July 17

Room

8:30 am

5:30 pm

5:30 pm

9:00 pm

"Dream, Achieve, Inspire" an Art Exhibit Artists with cystinosis from around the world have come together to share their creativity for global cystinosis awareness. More than 80 artists from 29 countries have united to bring cystinosis struggles to light. Each piece tells a story of strength and hope. The exhibit crosses language and cultural barriers in an effort to express the need for research, better treatments and in some countries access to life saving medication where there is none. "Dream, Achieve, Inspire" is an emotional journey through the hearts of those with cystinosis...Enjoy the beautiful ride!

Snow City Arts invites you to participate in the creation of a mural representing our conference. All attendees are encouraged to add their own twist to the project that will become part of the Art Exhibit and travel the world to other cystinosis conferences. Be a part of our artistic love letter to the cystinosis community! The final piece will be unveiled at the closing party.

8:35 am

8:50 am

9:35 am

10:10 am

Nephropathic cystinosis, a lysosomal storage disorder due to defective transport of cystine out of lysosomes, results from mutations in CTNS. Almost half the patients in North America and Europe are homozygous for a 57-kb deletion in CTNS.

Without treatment, children with cystinosis suffer from renal Fanconi syndrome and its complications, growth retardation, photophobia, and end-stage renal failure requiring kidney transplantation. Treatment with oral cysteamine, which can reduce cellular cystine levels by 95%, dramatically slows glomerular deterioration and normalizes growth. Based upon our examinations of 100 adult cystinosis patients between 1985 and 2006, we found striking rates of mortality (33%; mean age 29 years) and morbidity (24-75% for each complication), specifically related to hypothyroidism, hypergonadotropic hypogonadism (in men), pulmonary insufficiency, swallowing abnormalities, myopathy, retinopathy, vascular calcifications, and diabetes. In adults, long-term (>8years) oral cysteamine therapy was associated with significantly greater height and weight, older age at renal transplant, lower serum cholesterol levels, and lower rates of morbidity and mortality. In fact, as duration of cysteamine therapy increased, the frequencies of non-renal complications of cystinosis decreased. All symptomatic cystinosis patients should receive oral cysteamine therapy, and the earlier diagnosis is made and treatment initiated, the better the prognosis. This talk will serve as background for discussions of current pursuits into cystinosis clinical and basic research.

11:20 am

Questions to all from the audience

This session will showcase a mix of science, medicine, industry, advocacy group and patient experiences to provide an interactive experience for both family and professional attendees. Researchers, clinicians, industry, advocacy representatives, students, patients, and caregivers will be invited to exhibit their latest research findings, treatment breakthroughs, advocacy group updates and real patient and family experiences. This will be an interactive session where exhibitors will be available to discuss their work or experiences with those attending. We invite you to browse the posters and take this opportunity to ask the authors and presenters questions.

What is important to know about your health status and preparation for transition?

Review both chronic kidney disease and transplant medical conditions.

Identifying a medical home leader and appropriate partnering specialists.

Timing of transition and unique factors to consider, I.e., age, geographic location, special needs, etc

What specific medical/surgical themes need to be addressed?

Family planning and opportunities for assistance.

Please join the entire group for the unique and informative opportunity to have your questions and concerns addressed by the leading physicians and researchers in cystinosis. All of the doctors who have presented at the Family Conference, all attending Medical Advisory Board and Scientific Review Board members, as well as other health care professionals involved in treating and researching cystinosis are scheduled to participate. Questions for the panel will be collected during the proceedings today.

5:40 pm

Saturday, July 18

Room

8:30 am

5:30 pm

5:30 pm

"Dream, Achieve, Inspire" an Art Exhibit Artists with cystinosis from around the world have come together to share their creativity for global cystinosis awareness. More than 80 artists from 29 countries have united to bring cystinosis struggles to light. Each piece tells a story of strength and hope. The exhibit crosses language and cultural barriers in an effort to express the need for research, better treatments and in some countries access to life saving medication where there is none. "Dream, Achieve, Inspire" is an emotional journey through the hearts of those with cystinosis...Enjoy the beautiful ride!

Snow City Arts invites you to participate in the creation of a mural representing our conference. All attendees are encouraged to add their own twist to the project that will become part of the Art Exhibit and travel the world to other cystinosis conferences. Be a part of our artistic love letter to the cystinosis community! The final piece will be unveiled at the closing party.

8:40 am

9:15 am

The process for a controversies conference sponsored by KDIGO will be discussed, and the one that occurred in Lisbon in December 2014 will be reviewed for topic content and methodology moving forward. An opportunity for input by the community will be reviewed. Specific highlights will be noted.

9:40 am

Eric and Bill will provide an update on the services available to Procysbi patients to make accessing the drug from the pharmacy easier and more streamlined.  Eric will discuss Raptor’s Patient Support team and Bill will update our community on steps Accredo has taken to improve and expand the services available to patients.  Both organizations are committed to continuously improving, and each would like to hear from us about what they can do for the cystinosis community.

Lesli, Valerie and Amber will provide an update on the services available for obtaining access to Cystaran via Walgreens Specialty Pharmacy. Common questions and questions from the community about Cystaran will be addressed. Sigma-Tau and Walgreens are committed to the continued support of the Cystinosis community. Working together we continue to improve and streamline the processes, ensuring the patients receive the most efficient and robust services.

11:10 am

Panel presentation during which parents of children and adults with cystinosis will answer prepared questions and address topics related to the use of coping mechanisms through the ups and downs that cystinosis brings related to not only developmental and transitional issues of daily life but also medical issues. Parents of individuals at every stage of the disease will be featured and will share how they have managed the variety of challenges they have faced. Audience participation will be encouraged.

12:00 pm

Panel presentation during which individuals living with cystinosis will answer prepared questions and address topics related to the use of coping mechanisms through the ups and downs that cystinosis brings related to not only developmental and transitional issues of daily life but also medical issues. Adults living with cystinosis will be featured and will share how they have recognized and lived to their full potential given the challenges they have faced. Audience participation will be encouraged.

1:35 pm

2:00 pm

2:25 pm

Why people are not compliant, spectrum of the problem, Relationship between compliance score and time to ESRD, Renal Fanconi Syndrome index

2:50 pm

Children with nephropathic cystinosis invariably develop renal Fanconi syndrome with predominately proximal tubular dysfunction, leading to the loss of electrolytes and minerals, particularly calcium and phosphate. If inadequately treated with supplementations of calcium, phosphate and vitamin D, this leads inexorably to rickets/osteomalacia, with dramatic skeletal deformities during growth periods due to insufficient accretion of hydroxyapatite. We have become aware that small but chronic losses of bone mineral, not recognized by laboratory studies such as serum phosphate, calcium, and alkaline phosphatase, can produce devastating bone disease.  One goal is to investigate, evaluate, and prevent bone loss and deformity due to hypercalciuria and hyperphosphaturia, and to develop appropriate therapeutic guidelines for preventing such consequences of Fanconi syndrome.

3:10 pm

4:00 pm

These topic specific workshops allow families to tailor their conference experience to meet their specific needs. Families will have the opportunity to discuss and share their own experiences regarding the latest research, management techniques, and therapies with leading experts as well as with other families with similar issues and concerns. Sessions will be repeated so that participants may attend more than one workshop.

1. 
   Adult Session I (closed)
   

General Issues

2. 
   Teen/Transition Session
   

3. 
   Newly Diagnosed Families/Childhood Session
   

5:00 pm

1. 
   Adult Session II (closed)
   

sex/reproduction/birth control issues

2. 
   Teen/Transition Session
   

3. 
   Newly Diagnosed Families/Childhood Session
   

5:30 pm

10:30 pm

Complimentary, Cash Bar. Please join all conference attendees for dinner, dancing, photo booth and fun for all ages to celebrate our cystinosis community. Special performance by Tori Lynn Jones.