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August 2019 Newsletter

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August 2019


Family Support & Medical Conference
2019 NNPDF Cora Sterling Endurance Award
2019 NNPDF Persevere Award
2019 NNPDF Scientific Advisory Board
Chrystelle Bougault Series
NNPDF Emergency Hardship Program
Clinical Trial Updates  |  Upcoming Events
Stay Connected With Us


.August 15 – 18, 2019  |  Bloomington, Minnesota

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THANK YOU to all that joined us in Bloomington for our 27th Annual Family Support & Medical Conference! We were so glad to have you there! It was a wonderful time of fellowship, sharing, supporting and learning. 

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Our Family Support & Medical Conference was a success due to many supporters: from our sponsors and speakers, to our board, staff and volunteers. We THANK YOU for all that you have done to support our family conference.
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2019 FAMILY CONFERENCE PHOTOS

(More photos to come!)

2019 MEMORIAL VIDEO
2019 FAMILY CONFERENCE AGENDA

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Congratulations to our 2019

Persevere Award and Endurance Award Recipients!
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2019 NNPDF Persevere Award

.Congratulations to Dr. Melissa Wasserstein, 2019 Persevere Award recipient!

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2019 NNPDF Cora Sterling Endurance Award

.Congratulations to Serina Heinze, our first annual NNPDF Cora Sterling Endurance Award recipient!

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NNPDF greatly appreciates the efforts of our industry partners in helping to find treatments on behalf of the Niemann-Pick community. THANK YOU for your generous support of our 27th Annual Family Support & Medical Conference.

    
    

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Save the Date!

NNPDF Family Support & Medical Conference 2020

Mark your calendars for July 9-12, 2020 to join us at the NNPDF Family Support & Medical Conference – including Family Advisory Working Groups – in San Antonio, Texas!

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2019 NNPDF Cora Sterling Endurance Award

Congratulations to Serina Heinze, our first annual NNPDF Cora Sterling Endurance Award Recipient! This award has been presented to Serina for displaying a special characteristic, strength, and poise, that exemplifies her own endurance in the Niemann‐Pick journey and raising awareness of Niemann‐Pick Disease in the community.

Serina Heinze is a 19 year-old beginning her junior year at the University of Central Florida studying Non-profit Management with a minor in accounting. She started attending conferences in 2007 just a year and half after she lost her older brother to NPC. The first few years she spent in the childcare room as a child, then as she got a little older she mentioned that she wanted to volunteer because she was “too old” to be in the care room as a child. At age 12 she became a volunteer and loved every minute of it. The next year came and went and Serina felt another calling which resulted in a Facebook group for siblings of Niemann-Pick kids. It was a slow go, but still she was there for any sibling wanting to vent or chat or just read other people’s posts. The next year at conference she was able to lead the siblings group and has been a large part of it ever since. Advocating for the sibs table at meals, some fun activities away from the others and even making sure pictures are taken of them enjoying their weekend as well!

Many of the siblings still volunteer in the childcare room and have a blast! Serina has since lost her other two siblings to NPC and continues to want to be a shoulder for others to lean on. Her most recent adventures include a blog called PERSEVERE1212. Where she talks about her love of her siblings and how she got through it. She has a heart of gold and LOVES everyone genuinely. Serina continued to interact with many of the littles diring the Family Conference weekend and enjoyed every minute of it. If she could holler from the rooftop how much this disease and advocacy means to her we know that she would and we all look forward to seeing what is next for Serina and her journey!

Congratulations Serina and well done!

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2019 NNPDF Persevere Award

Melissa Wasserstein, Chief of the Division of Pediatric Medicine at Montefiore, was honored at the NNPDF’s 27th annual family conference as the recipient of the Persevere Award. This award is given annually to recognize a person who has integrated the mission of the NNPDF into their work and life. Melissa has devoted her career toward improving the lives of patients with lysosomal storage disorders including Niemann-Pick Disease. Her work in Niemann-Pick Disease includes overseeing the largest natural history study in the country for ASMD patients at Montefiore and acting as primary investigator for both the pediatric and adult clinical trials involving enzyme replacement therapy for ASMD.

Dr. Wasserstein’s interest in advancing newborn screening for both ASMD and NPC was highlighted in our recent webinar and expanded upon during her talk at the NNPDF family conference.  Dr. Wasserstein continues to volunteer her time and efforts to the Niemann-Pick community through her involvement as a member of our Scientific Advisory Board. Congratulations Dr. Wasserstein! 

Prior recipients of the award include Dr. Marc Patterson, Dr. Andrew Lieberman, Jim Green, Sandra Cowie, and Dr. Daniel Ory.

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2019 NNPDF Scientific Advisory Board

The NNPDF is proud to welcome our 2019 Scientific Advisory Board. As a national membership organization governed by parents and professionals, NNPDF fosters awareness, education, advocacy and research, supporting families and patients affected by Niemann-Pick disease. NNPDF’s unique position in the community is to remain unbiased in its education, advocacy and research efforts so that it serves the varying perspectives and needs of families and patients.  Because of this mandate, NNPDF plays a critical role during the engagement of industry in clinical trials and throughout the federal regulatory process.  Industry and the FDA depend upon national advocacy organizations that are governed to serve a wide range of patient and family needs. NNPDF is also the go to organization to augment scientific and clinical research, and to encourage professionals into the field.  In order to properly support NNPDF’s mission in these areas, the Board is reassembling the Scientific Advisory Board with the focus of advising NNPDF leadership with the research, clinical and regulatory leadership necessary to fulfill its role in the community.

SAB members serve at the invitation of the NNPDF Board. The role of the SAB is to provide advice to the NNPDF Board but it does not set policy.  For community transparency, SAB members will complete a conflict of interest disclosure document annually to be posted on the NNPDF web site.

The areas of responsibility for the SAB include providing expert advice and recommendations on:

  1. FDA regulatory issues
  2. Clinical issues
  3. Industry requests
  4. Annual conference topics and speakers related to research, clinical and regulatory
  5. Scientific and clinical materials that are utilized for public information for education
  6. NNPDF Board for future grant making fellowship program to promote clinical and research professionals to enter the field

CLICK HERE to learn more about the 2019 Scientific Advisory Board.

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Welcome to the Clinical Research Unit!

Chrystelle Bougault is a member of the NNPDF Board of Directors. She is the Project Manager at UC San Diego Altman Clinical and Translational Research Institute. In this series of articles, Chrystelle shares her broad knowledge about clinical trials, medical studies, and the clinic and hospital experience for patients and families.

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What is the screening visit?
You are about to meet the clinical team who will accompany you all along your journey.  How do you feel? Excited? Afraid? Overwhelmed? Maybe all of the above? After several weeks talking to the clinical team to arrange your venue and the screening visit schedule, you are finally here. You made the trip, sometimes across the country, to come to the hospital. Welcome! The clinical team is composed of the principal investigator (PI), the clinical research coordinator (CRC) and the research nurses among others. The principal investigator is the doctor responsible for the conduct of the trial. The coordinator is helping the PI in conducting the trial using good clinical practices. In other words, the coordinator is in charge of scheduling the visits on time, entering data, reporting events to the sponsor and the ethics committee, submitting regulatory documents to the ethics committee and may be involved in the trial financial aspects. The coordinator is your ‘go-to person’. He/she is a great source of information about the disease and the trial, and will support you all along your journey.

The screening visit starts with the informed consent process. Before any medical assessments can occur, you are going to discuss with the PI and/or the CRC to learn more about the trial.

What is the informed consent form?
The consent form is an ethical and legal document required when human participants are involved in research studies. This document summarizes the purpose of the clinical trial, the frequency of the visits, the duration of the study and the standard medical and research care among others. The predictable risks associated with the study procedures are also described. You will be made aware that by getting an investigational drug, you may be exposed to unknown risks. Moreover, the consent form will provide information about the possible benefits if any, your rights and responsibilities, the confidentiality of collected data and the contact information of the PI. The clinical team will read and explain the consent form. Feel free to ask any questions. All the questions that may arise will be addressed by the clinical team. Once you understand all the information contained in the consent form, you will be offered time to consider whether or not it is in your or your child’s best interest to join the clinical trial. If you agree to participate in the trial, the consent form will be dated and signed by both parties; you, the patient or patient representative, and the health care provider. You will receive a signed copy that you will preciously keep as it is an important source of information.

What are the next steps occurring at the screening visit?
The screening visit will proceed with medical assessments. The clinical team will ask you about your or your child’s demographic information, medical history and concomitant medical history. The duration of your visit at the hospital will depend on the complexity of the study. You or your child may go through a battery of medical assessments. The procedures can be non-invasive (ex: height, weight) or invasive (ex: imaging tests under general anesthesia for children). All the tests are necessary to assess your eligibility. It can take an extended period of time to obtain the results. This waiting period may be extremely difficult. If you meet all the inclusion and exclusion criteria, you can be enrolled in the clinical trial.

What happens at the first visit?
The first visit usually occurs within a few months of the screening visit where you are going to receive the first dose of the investigational drug. A study card will be assigned to you and you should always keep it on you. The name of the investigational drug, the date of the first dosage, as well as the PI and emergency contact information are listed on this card. In the eventuality that you are not able to recall this information, this card will allow the medical team will be alerted of your participation in a trial and will know which drug you are currently getting. The first visit is crucial to establish your baseline. The following medical assessments can occur at the first visit: vital signs, physical exam, neurological exam, blood tests, urine test, urine pregnancy test, stool sample culture test, biopsies, imaging tests, cardiovascular tests, pulmonary function tests, walking test, and questionnaires among others. Once the drug has been administered, you will be monitored. The length of the monitoring period, the length of each visit, the frequency of the visits and the duration of the study are specific to each clinical trial. A clinical trial may run for several weeks up to several years.

What are the potential benefits?
Your journey may be punctuated with ups and downs not knowing whether the treatment is working for you. You may or may not get any direct benefit from being in the trial, but your contribution to the trial will provide information to the investigators which will ultimately benefit the entire disease community.

What resources will be accessible at the hospital?
During your visit at the hospital, you may have the opportunity to interact with different specialists. You may talk to a social worker, or have the visit of a child life specialist, a music therapist, or a dog volunteer. Those services may bring you comfort and help you or your child go through all the procedures. Ask the clinical team what services are available at the hospital.

What are your responsibilities?
You do have responsibilities when you are enrolled in a clinical trial. You will inform the clinical team about any symptoms you may experience (ex: common cold, broken leg) and any medication you are starting, stop, taking or stopping. For the symptoms, the clinical team will always need to know the date at which they occurred and, if possible, the time. For the medications, the clinical team will ask you about the start and stop date, the dosage, the frequency at which you are taking those medications and the reason why they have been prescribed. Some medications may interfere with the investigational drug, so it is crucial to always inform your clinical team before starting any new medications.

How might your participation affect your day-to-day life?
Being enrolled in a clinical trial may have a significant impact on your life. You will be in a frequent communication with the clinical team. You might also need to consider how participating in the clinical trial will impact you or your family’s work schedule. You are not legally obliged to inform your employer about your participation in a clinical trial. However, if you need additional time off from work or want to work remotely from the hospital you may think about informing your employer and finding the best solution. You won’t have to cover for treatment costs or medical bills related to the study or the investigational drug. In phase I, II and III clinical trials, the investigational drug is free of charge.

What happens at the end of the clinical trial?
The end of study visit will be similar to the screening visit. Medical assessments will occur in order to obtain the final values. Clinical trials often require a follow-up visit after the end of study visit. The results of the study will be made public and can published in scientific journals.

Should you enroll in a clinical research study?
NNPDF does not endorse or recommend participation in any specific clinical trial. The decision to participate in a clinical trial is voluntary. You can terminate your participation at any time. If you are interested in joining a clinical trial, you can ask your primary doctor to refer you or can directly contact the clinical team. You will find the status of clinical trials (active, not recruiting, enrolling by invitation…) and PI contact information on the clinicaltrial.gov website or on the NNPDF website.

You may now have a better idea of what a patient’s trial journey looks like. I hope this article will help you to understand what to expect when you are going to the hospital as a potential research patient.

Best wishes,
Chrys B.

References:
fda.gov/patients/clinical-trials-what-patients-need-know/informed-consent-clinical-trials
ncbi.nlm.nih.gov/pmc/articles/PMC3307558/
ncbi.nlm.nih.gov/pmc/articles/PMC3777303/
clinicaltrials.gov/
patientsatheart.com/clinical-trials/preparing-my-clinical-trial
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NNPDF Emergency Hardship Program

The NNPDF Emergency Hardship Program launched July 1st. This program offers help to qualified NNPDF U.S. member families facing a crisis. Funding includes but is not limited to, specialized medical equipment, durable medical goods, utility bills (heating and cooling, electricity, phone, water and sewer), home and car repairs, and bereavement expenses. This assistance program provides relief to members facing a situation that threatens their immediate health and safety, or that causes a terrible hardship. It is intended to provide short term financial assistance in a crisis situation and is not intended to address long term financial challenges.

If you have questions about this program, please contact Laurie Turner, Family Services Manager at 603-413-8707 or familyservices@nnpdf.orgApplications will be reviewed by the NNPDF Emergency Hardship Program Committee consisting of 2 Board members and 3 members-at-large.

To be eligible for funding, NPD individuals and families must reside in the US and must be enrolled as a member of the NNPDF for a minimum of 6 months prior to requests*. Funding is available for up to $750 per calendar year per eligible member. Families with multiple children with NPD are eligible to apply for each affected individual. The NNPDF Board of Directors and Emergency Hardship Program Committee members work to keep the fund fiscally sound, by being the last resort to be used, limiting regular, recurring use by any one recipient, and encouraging donations.

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CLICK HERE TO APPLY

*Those with new diagnoses are eligible to apply if diagnosis was within 6 months of request.
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Clinical Trial Updates

Clinical trials are currently in progress to study and develop treatments for ASMD and NPC. The NNPDF posts new information regarding clinical trial updates as soon as it is received. Visit our Clinical Trials web page for up to date information on all clinical trials.

Update from CTD Holdings, Inc.
CTD Announces New Data Presented at Annual Gathering of Patients and Families Tackling Niemann-Pick Disease type C. Click here for complete announcement.

Update from Mallinckrodt Pharmaceuticals:
Mallinckrodt shares letter and responses to questions regarding suspension of VTS-270 301 in UK and France. Click here for complete announcement.

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Check out our Upcoming Events page at
nnpdf.org/news-media/upcoming-events/.

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Niemann-Pick Disease Awareness Month

Watch for upcoming information!

OCTOBER 1
Launch of the NEW International Niemann-Pick Disease Alliance (INPDA) Newsletter

October 19
International Niemann-Pick Disease Awareness Day


NNPDF Family Support & Medical Conference 2020
July 9-12, 2020 | San Antonio, Texas

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Stay Connected With Us

A quick reminder that if you are not receiving our NNPDF monthly newsletter via email or have recently changed your address or email, please click here to join us or to update your information.

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