CZI Rare As One: Co-designing an App and Wearable Based Compass for Rare Diseases

The CZI Rare As One Study is a pilot, beta testing that aims to recruit ~50 participants per disease group (LongCOVID, pancreatitis, sarcoidosis, VCP disease, and PCD) totalling 250 participants. Participants will be instructed to us a co-designed study app alongside specific wearable and smart devices as outlined below for 5 months.

LongCOVID: Oura ring, Empatica EmbracePlus wristband, Lumia ear device Pancreatitis: Oura ring, Empatica EmbracePlus wristband Sarcoidosis: Oura ring VCP Disease: Oura ring, MIR Smart One Spirometer, Apple Watch series 8 PCD: Oura ring, MIR Smart One Spirometer

Research staff (engagement specialists) will check-in via phone every 2 weeks with participants to provide support, troubleshoot tech problems, solicit study-related feedback and collect context related information about the participants disease.

The study app collects symptom specific information for each disease group, measures of disease burden, quality of life, and information about participants routines through self-reported surveys and tasks (cognitive, active tasks) and passive phone metadata derived from SensorKit's Research framework and an Android equivalent framework.

GENERAL INCLUSION CRITERIA

• 18+ years (except 14+ years for the PCD sub-arm)
• own a personal mobile device and use this phone to download and use the app for the study
• resides in the US
• be willing to use the study wearable devices
• have a clinician confirmed or suspected diagnosis of one of the 5 rare conditions as defined below in the cohort specific inclusion criteria below:

Long COVID sub-arm:

• have experienced Long COVID for at least 3 months as a continuous, relapsing and remitting, or progressive condition; and
• have experienced within the past week at least one or more of the following symptoms that started or significantly worsened following a COVID infection: shortness of breath, cough, persistent fatigue, post-exertional malaise (worsening of symptoms or fatigue after minimal activity), difficulty concentrating, memory changes, recurring headache, lightheadedness, fast heart rate, sleep disturbance, problems with taste or smell, bloating, constipation, and diarrhea.
• symptom(s) of COVID significantly impact your ability to work, ability to give care, enjoy recreational activities or reduce your quality of life
• Own a personal iPhone 8 (iOS 16+) or Android smartphone (version 12 or newer)

Sarcoidosis sub-arm

• have a diagnosis of sarcoidosis confirmed by a doctor, and have experienced fatigue for at least 2 days in the past month
• Own a personal iPhone 6s (iOS 15+) or Android smartphone (version 12 or newer)

Pancreatitis sub-arm

• have a diagnosis of chronic pancreatitis confirmed by a doctor, have had at least 1 pancreatitis flare in the past year, and have not had a surgery that completely removed the pancreas
• Own a personal iPhone 6s (iOS 15+) or Android smartphone (version 12 or newer)

VCP disease sub-arm

• have a clinician confirmed pathogenic VCP mutation or a family history of VCP disease, and are experiencing symptoms associated with the disease
• Own a personal iPhone 8 (iOS 16+) or Android smartphone (version 12 or newer)

PCD sub-arm

• a genetic test that confirms two abnormal copies (one on each gene) of a gene associated with PCD. These abnormalities must be classified as "pathogenic" or "likely pathogenic."; Or an abnormal electron microscopy cilia biopsy done in a PCD center.; and symptoms consistent with PCD.
• Own a personal iPhone 8 (iOS 16+) or Android smartphone (version 12 or newer)