Externally Led Patient Focused Drug Development Meeting (EL-PFDD)
July 8, 2022
Baltimore, Maryland
USA

Over a 100 patients, caregivers and doctors gathered from across the US, and from as far away as Asia, Europe and Greece to participate in the Externally Led – Patient Focused Drug Development (EL-PFDD) meeting. Additionally, we had participants join us virtually who were unable to travel because of the logistical challenges of traveling with their affected children.

Agenda
7:00 – 7:50 REGISTRATION / CONTINENTAL BREAKFAST
7:50 – 8:40 WELCOME & OPENING REMARKS
7:50 – 7:55 Welcome by Carolyn Hoffman
7:55 – 8:10 History of SSADHD by Dr. Michael Gibson
8:10 – 8:25 Role of FDA by Dr. Michelle Campbell
8:25 – 8:40 Goal of the Meeting & Polling Test by Dr. Mousumi Bose

8:40 – 12:50 MORNING SESSION

8:40 – 9:05 Phenotype & Current Treatments by Dr. Philip Pearl
9:05 – 9:45 Seizure Panel Discussion & Audience Polling
Presentations by 2 Affected Individuals and Caregivers (10 minutes)
Audience Polling & Moderated Discussion
9:45 – 10:25 Intellectual Disability Panel Discussion & Audience Polling
Presentations by 2 Affected Individuals and Caregivers (10 minutes)
Audience Polling & Moderated Discussion

10:25 – 10:40 MORNING BREAK

10:40 – 11:20 Behavior Panel Discussion & Audience Polling
Presentations by 2 Affected Individuals and Caregivers (10 minutes)
Audience Polling & Moderated Discussion
11:20 -12:00 Sleep Discussion & Audience Polling
Presentations by 2 Affected Individuals and Caregivers (10 minutes)
Audience Polling & Moderated Discussion
12:00 – 12:05 Morning Session Closing Remarks by Dr. J-B Roullet

12:05 – 1:05 LUNCH BREAK 1:05 – 5:20 AFTERNOON SESSION

1:05 – 1:15 Afternoon Opening Remarks by Dr. Philip Pearl
1:15 – 1:55 Speech Panel Discussion & Audience Polling
Presentations by 2 Affected Individuals and Caregivers (10 minutes)
Audience Polling & Moderated Discussion
1:55 -2:00 Physical Limitations Panel Discussion & Audience Polling
Presentations by 2 Affected Individuals and Caregivers (10 minutes)
Audience Polling & Moderated Discussion

2:35 -2:50 AFTERNOON BREAK

2:50 – 3:05 Prevalence, Current Diagnosis Methods, Future Diagnosis  by Dr. Sarah Elsea
3:05 – 3:45 Diagnostic Odyssey Panel Discussion & Audience Polling
Presentations by 2 Affected Individuals and Caregivers (10 minutes)
Audience Polling & Moderated Discussion
3:45 – 4:00 Participating in Clinical Trial by Dr. Melissa DiBacco
4:00 – 4:40 Clinical Trial Panel Discussion & Audience Polling
Presentations by 2 Affected Individuals and Caregivers (10 minutes)
Audience Polling & Moderated Discussion

4:40 – 5:20 AFTERNOON SESSION: CLOSING REMARKS
Next Steps
Thank You & Farewell
Happy Hour

Below are the video recording from the SSADHD EL-PFDD Meeting.

SSADH Association Welcome and Morning Session 1
EL-PFDD Meeting, Video 1 of 4.
Morning Session 2
EL-PFDD Meeting, Video 2 of 4.

Afternoon Session 1
EL-PFDD Meeting, Video 3 of 4.

Afternoon Session 2
EL-PFDD Meeting, Video 4 of 4.

Additionally we are able to share the Voice of the Patient report which has been submitted to the FDA’s Center for Drug Evaluation and Research Division of Neurology Products, Office of Neuroscience, for inclusion in the framework used to evaluate future Succinic Semialdehyde Dehydrogenase Deficiency (SSADHD) therapies. Patients’ views carry great weight with the agency when it considers whether to approve a new therapy.

The report reflects the success of the EL-PFDD meeting that was held to educate the FDA and other stakeholders on how SSADHD has impacted their life and the life of their loved ones. Over one hundred patients, caregivers, researchers, and clinicians came together from around the world to share the impact that this ultra-rare disorder has on their daily life. We were joined remotely by families, from across the world, whose patients were too fragile to travel and attend the meeting in-person.

In the year leading up to the meeting, we made every effort to encourage patients, caregivers and family members, at every stage of disease progression to get involved.

SSADHD is highly underdiagnosed and has a varying phenotype, so we are grateful to the more than 130 individuals who participated in the extensive survey describing the disease burden in their affected children. Additionally, we appreciate those who participated in the small group meetings, with caregivers and patient interviews attempting to narrow in on the most significant symptoms of the disease.

Our community owes a deep debt of gratitude to the patients and family members who courageously shared their stories. This landmark Voice of the Patient report documents the severe disease burden and unmet medical need in patients’ own voices. It includes a written summary of a year’s work around the EL-PFDD meeting.
Click here to review the Voice of the Patient report.

Below is a list of those who attended either virtually or in-person on behalf of the FDA to hear our perspective:

Billy Dunn – CEDR, Director of Office of Neuroscience
Cynthia Welsh – CDER Medical Officer
Eleanor Dixon-Terry – Regulatory Health
Emily Freilich – Clinical Team Lead
John Troiani – CDER Medical Officer
Julienne Vailancourt – Center for Biologics Evaluation and Research
Karen Jackler – Center for Biologics Evaluation and Research
Quyen Tran – JD at FDA
Robyn Bent – CDER, Director of Patient-Focused Drug Development
Sally Yasuda – CDER, Lead Pharmacologist
Mary Jo Salerno – Senior Regulatory Health Project Manager at FDA
William Lewallen – CDER, Patient-Focused Drug Development
Michelle Campbell – CDER, Patient-Focused Drug Development

Event Organizers: Jean-Baptiste Roullet PhD, Mousumi Bose PhD, K. Michael Gibson PhD, Alice McConnell, and Carolyn Hoffman

2020 Virtual SSADHD Conference
July 9 – 10, 2020

The 2020 Virtual SSADHD Conference held July 9 and 10, made up of two half day events including formal presentations by disease specific SSADHD expert clinicians and researchers in the field from around the world, allowing for a question and answer session at the end of each speaker.

The goal of the conference was to share updates from the on-going Natural History Study, encourage brainstorming between researchers and clinicians and discuss the best directions for future research moving forward.

A portion of the agenda was devoted to update families and caregivers of SSADHD patients.

Over 300 attendees registered, representing 25 countries and every continent. The proceedings from the event were published as a supplement in the Journal of Child Neurology and can be found at the link below.

Journal of Child Neurology 2021, Vol. 36(13-14) 1151-1152
Proceedings of the International SSADH Deficiency 2020 Conference
Click here to view the published proceeding.

Below are the recording from the event by day and session.

Agenda

Day 1 (July 9)

Welcome / Clinical Updates
Session 1: (Moderator Dr. Gibson)
Dr. Phillip Pearl/Dr. Melissa DiBacco – SSADHD Natural History Study Updates
Dr. Edward Yang/Dr. Simon Warfield/Dr. Onur Afacan – Imaging in SSADHD
Dr. Alexander Rotenberg – TMS and Abnormal Innervation in SSADHD
Dr. Kathrin Jeltsch/Dr. Thomas Opladen – Status of SSADHD in the iNTD

Family Updates

Session 2: (Moderator Carolyn Hoffman and Alice McConnell)
Dr. Kiran Maski – Sleep in SSADHD
Dr. Joseph Gonzalez-Heydrich – OCD in SSADHD
Dr. Phillip Pearl – SUDEP and SSADHD

Day 2 (July 10)
Basic Science Updates and Future Therapeutic Considerations
Session 1: (Moderator Dr. Opladen)
Dr. Henry Lee – Enzyme Replacement Therapy in SSADHD
Dr. Mustafa Sahin – iPSCs and screening for novel therapeutics for SSADHD
Dr. Justin Chen – In silico identification of novel GHB receptor ligands for SSADHD

Session 2: (Moderator Dr. Roullet)
Dr. Timothy Yu – Customized Therapy for Rare Diseases
Dr. Ritva Tikkanen – Chaperone Therapy for SSADHD
Dr. Mousumi Bose – Patient/Family reported qualitative outcomes in SSADHD
Question and Answer Session

Below are links to the recording from the event.

7/9/2020 SSADHD Conference – Session 1

7/9/2020 SSADHD Conference – Session 2

7/10/2020 SSADHD Conference – Session 3 

7/10/2020 SSADHD Conference – Session 4 

Additionally another positive outcome from the conference is the creation of the SSADH Deficiency Investigators Consortium (SDIC).  The SDIC is a group of medical professionals who have committed to collaborate on SSADH research.

Conference Organizers: Dr. Melissa DiBacco, K. Michael Gibson PhD, Alice McConnell, Carolyn Hoffman and Dr. Phillip Pearl

SSADH Symposium
March 31 –  April 1st, 2016
Cambridge, Massachusetts

Agenda:

Thursday, March 31, 2016   

Welcome – Phillip Pearl, MD

Clinical Phenotype of SSADH Deficiency – Phillip Pearl, MD

Research Topic – K Michael Gibson, PhD

SGS Clinical Trial -William Theodore, MD

Mechanism of synaptic development -Mustafa Sahin, MD, PhD

 Focus on rare diseases research – Christopher P. Austin, MD

Finding the Undiagnosed – Keith Hyland, PhD

Patient engagement and recruitment strategies – Jill Morris, PhD

Metabolism – Gerard Berry, MD

Synaptic Connections -Troy Littleton, MD, PhD

Friday, April 1, 2016 

Welcome – Phillip Pearl, MD

Building a  patient-centered medical home – Susan Edgman-Levitan

Occupational Therapy and Early Childhood Interventions – Susan Kratz

Speech Therapy – Marie Coakley

Power of the Patient – Julia Jenkins

Dealing with the “caregiver’s burden” – Lisa Phelps, MPH

Building a stronger patient association – Nathalie Laidler-Kylander

Patient Centered Drug Development/Bench to Bedside – Irene Dustin, MD

Seizure Management – Cheryl Cahill, RN

Question and Answer Session