Is there a specific LGMD sub-type your organization focuses on?
是

Which LGMD sub-type?
LGMD 2B / LGMD R2 dysferlin-related

If you focus on a sub-type, is there a registry and how can patients join?
Yes, we have a registry for patients with dysferlinopathy. We encourage patients to contact us at patients@jain-foundation.org; more details about the registry can be found at: https://www.jain-foundation.org/patients-clinicians/how-to-take-action/dysferlin-registry/

Is your organization a non-profit? If so, what type?
因此，我们不向公众募捐。

What inspired the establishment of your organization?
我们的成立源于创始人的儿子被诊断出患有铁蛋白血症。在家人与其他患者和研究人员接触后，2005 年成立了詹恩基金会。

What is your organization's mission?
开发治疗和治愈铁蛋白沉积症的方法。

What services does your organization provide?
我们主要致力于研究和开发治疗方法，而不是为患者提供服务。但是，如果没有患者，就不可能测试治疗方法或确定临床试验的结果指标，而且对于所有形式的 LGMD 来说，诊断仍然是一个巨大的挑战。因此，我们设立了一个患者登记处，为可能患有铁蛋白吸收障碍的患者提供诊断服务，帮助他们明确诊断，使他们能够接受临床试验，并最终获得治疗。

What is your organization most proud of?
We have just completed a 12 year clinical study, The Clinical Outcome Study of Dysferlinopathy, involving some 300+ patients at 21clinical centers in eleven countries. This study has provided a definitive natural history of dysferlinopathy, has identified the best outcome measures (what will be measured, in how many people, for how long) to be used in clinical trials for dysferlinopathy in order to determine if a treatment is effective.

What do you want the world to know about your organization?
We are pursuing many approaches to treating dysferlinopathy including gene therapy, repurposing drugs already on the market for other diseases, and the development of new drugs. For gene therapy, we are currently working with Kinea Bio, which is developing a “dual vector” AAV gene therapy for dysferlinopathy. In addition, we have so far tested over 15 candidate drug treatments in preclinical studies in mice with dysferlinopathy and are always exploring and testing new treatment options. We are hopeful one or more of these treatments will show a benefit for dysferlinopathy.

How can people become involved in supporting your organization?
由于我们不向公众筹集资金，因此我们寻求患者和其他人的支持，加入 Dysferlin 注册机构，考虑参与临床研究，提高人们对这种疾病的认识，并参与社区活动。越来越清楚的是，对于罕见病而言，强大的宣传组织和患者/家庭社区的存在对于开发治疗方法至关重要。詹恩基金会可以提供组织，但我们需要您的支持来建立一个强大的社区！

What is the best way to contact your organization?
Patients diagnosed with or suspected of having dysferlinopathy can contact us at patients@jain-foundation.org. In addition, we encourage people to visit our website (jain-foundation.org), which contains a lot of information about dysferlinopathy and our research programs.

Is there anything else you'd like to add?
我们致力于打破障碍，实现开发治疗方法和治愈疾病的目标。这些障碍包括：填补科学知识方面的空白，以帮助我们确定可能的治疗方法；加深对疾病的临床了解，以便成功开展临床试验；利用 Dysferlin 注册中心维持患者社区的参与度，以便高效地开展试验；以及对未来疗法进行临床前和临床试验。