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

The CZI Rare As One study is a Chan Zuckerberg Initiative funded study that aims to co-design and pilot test unique symptom tracking and transmitting apps across 5 different sub-arms that includes individuals with Long COVID, Pancreatitis, Sarcoidosis, Vasolin-Containing Protein (VCP) disease and Primary Ciliary disease (PCD). This study aims to use multimodal digital health tools to enable patients to self-monitor their symptoms in passive and active ways.

Study Overview

• Status: Completed
• Conditions: Pancreatitis, Chronic; Sarcoidosis; Long COVID; Wearables; Symptoms and Signs; VCP Disease; PCD
• Intervention / Treatment: Other: Observational - no intervention

Detailed Description

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.

• Study Type: Observational
• Enrollment (Actual): 239

Contacts and Locations

Study Locations

• United States
  • New York
    • New York, New York, United States, 11021-3326
      • 4YouandMe

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

Patients with a clinician confirmed diagnosis of pancreatitis, sarcoidosis, PCD, VCP disease and LongCOVID (suspected diagnosis).

Description

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)

Study Plan

How is the study designed?

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Retention	Proportion of participants retained for the full study	5 months
Adherence	Average adherence of daily app use surveys/tasks over follow-up	5 months

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Usability	Patient reported usability of study devices (qualitative). Participants will be asked over bi-weekly phone check-in calls a number of questions relating to study experience outlined below. Qualitative synthesis of this unstructured text will be completed to understand themes. IS THERE ANYTHING THAT IS PARTICULARLY MAKING YOU WANT TO USE THE STUDY APP LESS? IS THERE ANYTHING ABOUT THE STUDY APP THAT YOU DIDN'T EXPECT TO ENJOY BUT YOU DO? WHAT ARE THE PRIMARY BARRIERS TO USING THE STUDY APP? 1 FORGETFULNESS; 2 INCONVENIENCE; 3 HEALTH-RELATED BARRIERS; 4 ENVIRONMENTAL BARRIERS; 5 TECHNOLOGICAL BARRIERS; 6 DIGITAL LITERACY; 7 TASK FATIGUE; 8 LOW PERCEIVED UTILITY; 9 PRIVACY & CONFIDENTIALITY CONCERNS; 10 OTHER WHAT ARE THE PRIMARY BARRIERS TO USING THE OURA RING? 1 FORGETFULNESS; 2 INCONVENIENCE; 3 HEALTH-RELATED BARRIERS; 4 ENVIRONMENTAL BARRIERS; 5 TECHNOLOGICAL BARRIERS; 6 DIGITAL LITERACY; 7 TASK FATIGUE; 8 LOW PERCEIVED UTILITY; 9 PRIVACY & CONFIDENTIALITY CONCERNS; 10 OTHER	5 months
Benefits/Harms	Patient reported benefits and harms from using the study devices (qualitative). Participants will be asked over bi-weekly phone check-in calls a number of questions relating to study experience outlined below. Qualitative synthesis of this unstructured text will be completed to understand themes. ARE THERE ANY FEATURES OF THE STUDY APP THAT YOU ARE FINDING BENEFICIAL TO YOUR HEALTH / WELLNESS ? ARE THERE ANY FEATURES OF THE STUDY APP THAT YOU ARE FINDING NOT BENEFICIAL / HARMFUL TO YOUR HEALTH / WELLNESS ? ARE THERE ANY FEATURES OF THE OURA RING / OURA APP THAT YOU ARE FINDING BENEFICIAL TO YOUR HEALTH / WELLNESS ? ARE THERE ANY FEATURES OF THE OURA RING / OURA APP THAT YOU ARE FINDING NOT BENEFICIAL / HARMFUL TO YOUR HEALTH / WELLNESS ?	5 months

Collaborators and Investigators

• Sponsor: 4YouandMe
• Collaborators: Patient Led Research Collaborative (PLRC); Mission: Cure; Cure VCP Disease; Foundation for Sarcoidosis Research (FSR); Primary Ciliary Disease Foundation (PCD)

Study record dates

Study Major Dates

• Study Start (Actual): February 6, 2025
• Primary Completion (Actual): July 1, 2025
• Study Completion (Actual): July 1, 2025

Study Registration Dates

• First Submitted: January 31, 2025
• First Submitted That Met QC Criteria: April 1, 2025
• First Posted (Actual): April 3, 2025

Study Record Updates

• Last Update Posted (Actual): August 12, 2025
• Last Update Submitted That Met QC Criteria: August 7, 2025
• Last Verified: August 1, 2025

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Pathologic Processes; Chronic Disease; Disease Attributes; Immune System Diseases; Digestive System Diseases; Hypersensitivity; Pancreatic Diseases; Lymphatic Diseases; Lymphoproliferative Disorders; Hypersensitivity, Delayed; Pancreatitis; Pancreatitis, Chronic; Rare Diseases; Sarcoidosis
• Other Study ID Numbers: 4UCZIRAO

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: YES
• IPD Plan Description: All data, source code, and study findings will be made open source via public repositories (TBD), GitHub, and published documents.
• IPD Sharing Time Frame: 1 year of study completion
• IPD Sharing Access Criteria: All qualified researchers with an approved IRB protocol
• IPD Sharing Supporting Information Type: STUDY_PROTOCOL; ANALYTIC_CODE; CSR

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No
• product manufactured in and exported from the U.S.: Yes