A new video platform to help diagnose and treat rare diseases.
Official title: The development of the Clinical Picture Maker, a novel video platform to aid the diagnosis and treatment of SCN2A-related disorders, and other rare diseases.
Funded at Tiranoff Productions, LLC · NIH-10759930 · Data updated 2026-11-12
This study is testing a new video platform called the Clinical Picture Maker that helps people with rare disorders, like SCN2A-related conditions, share their symptoms and daily experiences with doctors, making it easier and faster for them to get the right diagnosis.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Tiranoff Productions, LLC NIH-funded |
| Lab location | 1 site (New York, United States) |
| Project start | September 15, 2023 |
| Project end | July 14, 2025 |
| Funding year | 2023 |
| Award (this year) | $321,945 |
| NIH project number | 1R41TR004790-01 |
| Project ID | NIH-10759930 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research include children and young individuals diagnosed with rare disorders, particularly those related to SCN2A.
✕Less likely to help
Patients with common disorders or those who do not have access to video documentation tools may not benefit from this research.
What this research studies
This research focuses on creating the Clinical Picture Maker, a video platform designed to assist in the diagnosis and treatment of rare disorders, including SCN2A-related conditions. The platform will enable patients and caregivers to document symptoms and daily experiences through video, which can then be organized and shared with healthcare professionals. By improving visual communication of symptoms, the project aims to reduce the time it takes for patients to receive accurate diagnoses, which currently averages over five years. The approach leverages existing expertise in video documentation to enhance understanding of rare diseases among clinicians.
Why it matters
Potential benefit: If successful, this research could significantly shorten the diagnostic journey for patients with rare diseases, leading to timely and appropriate treatment.
How similar studies have gone: Previous research has shown success in using video documentation to aid in the diagnosis of conditions like Angelman Syndrome and autism, indicating a promising approach for this novel platform.
Where this research is happening
-
Tiranoff Productions, LLC
New York, United States Active
Researchers
- Principal investigator: Tiranoff, Louise Mary — Tiranoff Productions, LLC
- Study coordinator: Tiranoff, Louise Mary
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About this research
- This is an active NIH-funded research project — typically early-stage science, not a clinical trial accepting patient enrollment.
- Some NIH-funded labs run parallel clinical studies or seek volunteers for related work. To check, contact the principal investigator or institution listed above.
- For full project details, budget, and progress reports, visit the official NIH RePORTER page.