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Implementation and effectiveness of a telemedicine platform among patients with rare diseases and their caregivers: A non-randomized controlled study

This non-randomized controlled study found that while a telemedicine platform for rare disease patients and caregivers did not significantly improve quality of life or depression compared to in-person care, it substantially increased treatment satisfaction and reduced healthcare costs, despite facing technical and administrative implementation barriers.

Original authors: Youngshin Joo, Jisoo Baek, Jong-Hee Chae, Soo Yeon Kim, Seungbok Lee, Young Jin Kwon

Published 2026-07-03

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CC BY 4.0

Original authors: Youngshin Joo, Jisoo Baek, Jong-Hee Chae, Soo Yeon Kim, Seungbok Lee, Young Jin Kwon

Original paper licensed under CC BY 4.0 (https://creativecommons.org/licenses/by/4.0/). ✨ This is an AI-generated explanation of the paper below. It is not written or endorsed by the authors. For technical accuracy, refer to the original paper. Read full disclaimer

Imagine you have a very rare and complex health condition. In the real world, getting the right help for this is like trying to find a specific needle in a massive haystack, and that needle is located in a different city. For families, this means endless trips, expensive train tickets, missed work, and the stress of navigating a system that wasn't built for them.

This study asked a simple question: What if we could bring the doctor to the family's living room instead of forcing the family to travel to the hospital?

The researchers built a digital "bridge" (a telemedicine platform) to connect rare disease patients and their caregivers with specialists via video. They compared two groups of people over the course of a year:

The Digital Group: Used the new video platform, kept a digital diary of symptoms, and got AI help to summarize their notes before talking to the doctor.
The Traditional Group: Continued to travel to the hospital for face-to-face appointments as they always had.

Here is what they found, broken down into simple terms:

1. The "Health Score" Didn't Change Much

The researchers wanted to know if the digital group felt happier or less depressed than the traditional group.

The Result: Both groups ended the year feeling about the same. The digital group didn't get a "super boost" in their quality of life or a "magic cure" for their sadness compared to the group that kept traveling.
The Analogy: Think of it like two people trying to fix a leaky roof. One uses a high-tech drone to inspect it, and the other climbs a ladder. At the end of the day, the roof is still just as dry (or wet) for both of them. The method didn't change the outcome of their emotional well-being, but that doesn't mean the drone was useless.

2. The "Happiness" Score Went Up

While their mental health scores were similar, the digital group was much happier with the service.

The Result: People in the video group gave the care a huge thumbs-up. They loved the convenience.
The Analogy: It's like ordering a pizza. You can drive to the restaurant, wait in line, and eat there (Traditional), or you can have it delivered to your door (Digital). The pizza tastes the same (the medical care is the same), but the delivery option makes you much more satisfied because you didn't have to deal with traffic.

3. The "Wallet" Saved a Fortune

This was the biggest winner.

The Result: The digital group saved a massive amount of money. On average, they spent 0 Korean Won on travel and lost time, while the traditional group spent about 240,000 Korean Won (roughly $180 USD) per year just on getting to and from the hospital.
The Analogy: The traditional group was paying a "travel tax" every time they saw the doctor. The digital group got a "free pass." The study found that by cutting out the trips, the digital group kept their money in their pockets.

4. The "Glitches" in the System

The study didn't just look at the good stuff; it also looked at what broke. The digital bridge had some potholes:

Technical Hiccups: Sometimes the video froze, the audio howled like a feedback loop, or the connection dropped entirely.
Paperwork Purgatory: Even though the doctor was on a screen, the "prescription" part was tricky. Sometimes the digital prescription didn't reach the pharmacy, or the system got confused about who was paying.
The "Old School" Barrier: Some older family members or those not used to technology found the app confusing, needing a human to hold their hand through the process.
The "Certificate" Problem: If you needed an official paper document (like a medical certificate for school or work), the app couldn't print it. You still had to go to the hospital in person to get the "stamp of approval."

The Bottom Line

The study concludes that this digital platform is a great helper, but not a total replacement.

It's like a powerful sidekick to the main hero (the in-person doctor). It didn't make the patients feel "better" in a medical sense than the traditional group, but it made the journey much less painful, much cheaper, and much more convenient.

The researchers say that for this to work long-term, we need to fix the "potholes" (the technical glitches and paperwork issues) and realize that sometimes, you still need to visit the hospital in person for things like physical exams or official documents. But for the days in between? The video call is a game-changer that saves time, money, and stress.

Technical Summary: Implementation and Effectiveness of a Telemedicine Platform for Rare Disease Patients and Caregivers

1. Problem Statement

Rare diseases impose severe psychosocial and economic burdens on patients and families, exacerbated by significant barriers to accessing specialized medical services. In South Korea, where approximately 1,389 diseases are designated as nationally managed rare diseases, the "diagnostic odyssey" and the scarcity of treatments (available for less than 5% of cases) necessitate long-term, specialized care. However, the existing infrastructure, including a Central Support Center and 11 Regional Hub Centers, is insufficient to meet the needs of the population, particularly for pediatric patients. Families often face repeated travel to capital-city tertiary centers, resulting in high transportation costs, lost productivity, and caregiver burnout. While telemedicine has emerged as a potential solution, there is a lack of empirical evidence validating its effectiveness regarding quality of life (QoL), depression, and cost-effectiveness compared to conventional in-person care, particularly in the context of rare diseases.

2. Methodology

Study Design:
This study employed a non-randomized controlled design to evaluate a telemedicine platform developed in collaboration with KB Healthcare and the research team. The study was conducted at a tertiary hospital's Rare Disease Center in South Korea.

Participants:
The study included 79 participants (38 in the intervention group, 41 in the control group) consisting of patients with confirmed rare diseases (diagnosed at least one year prior) and their caregivers. Eligibility required clinical stability suitable for periodic monitoring without immediate need for additional diagnostic workups. Participants were assigned to groups based on the order of enrollment.

Intervention:
The intervention group utilized the "OllaCare" platform via KakaoTalk for approximately one year (September 2024 – October 2025). Key features included:

Multi-party video consultations: Allowing up to three caregivers to join sessions with specialists.
Care Diary: A feature for patients/caregivers to upload daily logs, including photos and videos of symptoms.
AI Pre-consultation Summaries: Artificial Intelligence generated summaries of the care diary for review by clinical staff (nurses with clinical experience) prior to consultations to ensure preparedness.
Remote Prescription: Electronic prescribing capabilities.

The control group received conventional in-person care at the same facility.

Measurements:

Primary Endpoints: Quality of Life (WHOQOL-BREF) and Depression (CES-D).
Secondary Endpoints: Treatment satisfaction (PSQ-18) and economic costs (direct non-medical and indirect costs).
Implementation Analysis: Systematic documentation of technical, administrative, and institutional barriers encountered during operation.

Data Analysis:
Statistical analysis was performed using IBM SPSS Statistics 21.0. A two-way repeated measures ANOVA was used to test group-by-time interactions for QoL and depression. Satisfaction and cost differences were assessed using independent t-tests or Mann-Whitney U tests.

3. Key Results

Clinical Outcomes (QoL and Depression):

There was no significant group-by-time interaction effect for Quality of Life ( $F=0.04, p=0.847$ ) or Depression ( $F=0.03, p=0.864$ ).
Both groups showed within-group improvements in QoL and reductions in depression over time, but the telemedicine intervention did not demonstrate a statistically superior effect compared to in-person care on these specific metrics.

Satisfaction:

The intervention group reported significantly higher treatment satisfaction ( $68.89 \pm 9.65$ ) compared to the control group ( $56.83 \pm 11.36$ ; $t=5.07, p<0.001$ ).
Primary advantages cited by the intervention group included reduced travel time (100%), reduced transportation costs (57.9%), and scheduling flexibility (55.3%).
Primary disadvantages included inconvenience in prescription/administrative processes (36.8%) and video/audio quality issues (16.2%).

Economic Analysis:

Utilization: The intervention group had a significantly lower number of annual in-person visits (0.66 vs. 2.90 in the control group; $p<0.001$ ).
Costs: The total annual cost per patient was significantly lower in the intervention group. The median annual cost was 0 KRW (IQR 0–57,487) for the intervention group versus 240,000 KRW (IQR 99,600–470,010) for the control group ( $p<0.001$ ).
The cost reduction was driven primarily by the elimination of transportation and indirect costs (productivity loss) associated with travel, as direct medical costs were standardized across groups.

Implementation Barriers:
The study identified three categories of operational hurdles:

Technical: Unstable video connections, audio transmission errors in multi-party calls, and compatibility issues with specific devices/browsers.
Administrative: Errors in electronic prescription transmission to pharmacies, delays in payment processing for specific beneficiary groups, and difficulties in generating English medical documents.
Institutional: Legal requirements for in-person verification of guardianship for document issuance and system limitations regarding referrals between departments.

4. Key Contributions

Empirical Validation: This study provides comparative data on a telemedicine platform specifically for rare disease patients and caregivers, moving beyond single-arm satisfaction surveys to include a control group.
Cost-Effectiveness Evidence: It demonstrates that telemedicine can significantly reduce the total annual economic burden (travel and productivity loss) for families managing rare diseases without increasing clinical visits.
Family-Centered Care Model: The study validates the utility of multi-party video consultations and AI-assisted care diaries in facilitating family involvement and pre-consultation preparation.
Implementation Science: It offers a systematic categorization of real-world barriers (technical, administrative, institutional) that hinder the sustainable deployment of telemedicine in tertiary care settings, highlighting that technology alone is insufficient without workflow and policy alignment.

5. Significance and Claims

The authors claim that the telemedicine platform successfully improved treatment satisfaction and reduced healthcare costs while maintaining clinical outcomes comparable to in-person care. However, the paper explicitly states that the absence of significant differences in QoL and depression should not be interpreted as evidence of clinical equivalence, as the study was not powered as a non-inferiority trial.

The significance of the findings lies in the potential for telemedicine to serve as a complement to conventional care, extending the reach of specialized services to geographically distant families. The study suggests that for clinically stable patients, telemedicine can shift the modality of care (reducing travel burden) without curtailing the amount of care delivered. The authors conclude that future research must employ multicenter, non-inferiority designs with pre-specified equivalence margins and longer follow-up periods to definitively establish the clinical non-inferiority of such platforms in rare disease management.