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Over 70% of rare disease patients and non-patients are aware of the patient registry but the participation rate accounted for less than 30%, according to a recent survey of the public’s acknowledgement of and participation in the rare disease patient registry. The survey was conducted by the School of Life Sciences at The Chinese University of Hong Kong (CUHK), with joint support from Hong Kong Spinocerebellar Ataxia Association and Hong Kong Alliances for Rare Diseases. Results revealed that patients with rare diseases lacked sufficient understanding of the patient registry scheme or engagement with it.

In light of this, Professor H.Y. Edwin Chan, Professor of the School of Life Sciences, CUHK together with Professor C.T. Vincent Mok, Head of the Division of Neurology, Department of Medicine and Therapeutics, CUHK will organise two public seminars. These will aim to increase the public’s understanding of the pathology of Spinocerebellar Ataxia and Motor Neuron Disease, of the relevant patient care, of treatment of and concerns over the two rare diseases, and lastly of the importance of taking part in the patient registry. In the middle of the year 2020, voluntary CUHK teams will reach out to numerous patient groups to increase promotion of the patient registry.

The survey was conducted online between 3 June and 15 July 2019. A total of 381 valid questionnaires were received. Of the interviewees, 143 respondents (38%) came from rare disease patient groups while 238 respondents (62%) were from non-patient groups, including families of rare disease patients, public health practitioners, and general citizens. Among the respondents with rare diseases, three people reported to have suffered from more than one rare disease. Nine extremely rare diseases were not listed in the questionnaire’s 112 types.

Over 70% of the patients are not on the patient registry

The findings showed that 81 interviewees in the patient group took note of the rare disease patient registry whereas 62 of them indicated that they never heard of the scheme. Only 40 patients, accounting for 28% of this group, were aware of the scheme and enrolled. Out of these 40 patients, 23 of them learnt of the patient registry scheme via patient groups or organisations and their reasons for participation varied: “I hope I can try out new drugs if my name is on the list” (27.5%), “I hope I can be cured” (12.5%), “I will follow my doctor’s advice” (10%), and “I may not recover but I hope my family and subsequent generations can benefit from relevant treatments” (2.5%).

The lack of public knowledge and promotion leads to low participation rate

In spite of being exposed to the scheme, 41 patients did not join it. Their reasons were as follows: “I don’t know how to participate in it” (58.5%), “The patient registry of my rare disease has not yet developed” (14.6%), “I cannot see any information on the patient registry” (12%), “I was not introduced to the registration process of the patient registry” (7.3%) and “I am not interested in it” (7.3%).

At the same time, among the 238 non-patients surveyed, 162 of them were well-informed of the registration practice while 76 of them remained oblivious to the scheme.

In short, out of the 381 respondents, 243 of them (63%) recognised the patient registry whereas 138 of them (36%) had gathered no information on it. The participation rate among the 143 patients was surprisingly low, with merely 28% of them indicating that they registered.

Collaborative efforts among research teams, health practitioners and patient groups

To facilitate the research of pathogenesis and related developments of rare diseases, a comprehensive patient registry is of paramount importance. Such a system can motivate the development of distinctive treatment options and advance rare disease therapies to delay the deterioration of the diseases.

Professor Chan, who conducted the study, expressed his concerns over the lack of public attention coupled with awareness of rare diseases. Despite the fact that more and more people are paying more attention to rare diseases, the findings, in fact, presented a rather grim picture of patients failing even to associate themselves with the scheme, let alone having a very superficial understanding of it. Professor Chan attributed the problem to the lack of scientific knowledge and accurate information, as well as the ineffective integrative approaches adopted when introducing the scheme.

In order to draw people’s attention to the patient registry scheme, Professor Chan has come up with the following measures:

1.         Disseminating relevant and the appropriate health information

In the middle of the year 2020, a voluntary team consisting of students from various disciplines will reach out to various patient groups, and work closely to promote the patient registry scheme to rare disease patients and their caretakers.

2.         Raising public awareness of rare diseases

Since August 2019, Professor Chan has been setting up a multi-disciplinary research network called the Nexus of Rare Neuro-degenerative Diseases (NRND) with local and international scientists, specialists and nonprofit patient groups. This online platform (http://www.bch.cuhk.edu.hk/NRND) was launched on 2 December, making available different kinds of up-to-date information concerning rare diseases.

Apart from the above, the School of Life Sciences, Prince of Wales Hospital and the Hong Kong Spinocerebellar Ataxia Association will organise two seminars which will aim to empower the community with knowledge about rare diseases.

Public Seminar 1

Public Seminar 2

About the Patient Registry

The rare disease patient registry is the cornerstone of the development of a rare disease database. This system aims to collect corresponding information of medical history and drug treatments. It is believed that such information can help medical teams better understand the pathogenesis and development of various kinds of rare diseases more precisely, and hence accelerate medical researches as well as advance the drug and therapy development process. This scheme requires the commitment of patients. In other words, this registry can only improve when relevant details are communicated and conveyed by the patients themselves. Currently, patient registries regarding the following rare diseases are comparatively more comprehensive and well-received: Spinocerebellar Ataxia, Tuberous Sclerosis Complex, and Retinitis Pigmentosa.

About Professor Edwin Chan

Professor H.Y. Edwin Chan is the founder of Nexus of Rare Neuro-degenerative Diseases (NRND). He is a professor in the School of Life Sciences at CUHK. He obtained his doctoral degree from the University of Cambridge. Since 1999, Edwin has devoted himself to the research of different neurological diseases and his principal area of interest includes the investigation of the pathogenic pathways of spinocerebellar ataxias and the development of relevant therapeutics. Other main areas of interests are Amyotrophic Lateral Sclerosis, Myotonic Dystrophy and Huntington’s disease. In 2012, Edwin carried out genetic tests for spinocerebellar ataxias patients transferred by Prince of Wales Hospital. Till now, over 100 patients suffering from rare diseases have been involved in the tests. Under his guidance since 2013, a patient registry has been operated by Hong Kong Spinocerebellar Ataxia Association, which is quite extensive and substantial among several rare diseases organisations in the territory. In September this year, Edwin attended a training workshop, Rare Disease Registries, at the International Summer School on Rare Disease Registries and Fairification of Data organised by Istituto Superlore di Sanita (ISS) and the European Joint Programme on Rare Diseases in Rome, Italy.