Welcome to the Muscular Dystrophy Registry of Pakistan!
The Muscular Dystrophy Registry of Pakistan has been setup with a goal to improve outcomes and quality of life in patients with muscular dystrophies and related neuromuscular disorders. The registry is currently recruiting patients with Duchenne/Becker Muscular Dystrophy and Spinal Muscular Atrophy. Your participation in the registry is crucial for its success, and is completely voluntary. If you are considering registering, please review the following information.
What is a disease registry?
A disease registry is a database for collecting information on specific diseases from patients who share the disease.
What is Muscular Dystrophy?
Muscular dystrophies (MDs) are a group of genetic diseases characterized by progressive weakening of muscles. MDs can manifest at birth, during childhood or even adulthood.There are different types and subtypes of muscular dystrophies, and the majority are inherited. Therefore, it is not uncommon to see several members in a family affected by the disorder. There is no known cure yet, and treatment options mostly involve rehabilitation & support to keep patients functional and complication-free and enhance longevity & quality of life.
What is the purpose of establishing the muscular dystrophy registry in Pakistan?
Despite being the 6th most populous country in the world, there is no disease registry available in Pakistan to collect data on patients with MDs. Due to limited availability of diagnostic resources, lack of skilled healthcare professionals, and non-availability of epidemiological data, it is difficult to ascertain the prevalence and incidence of MDs in Pakistan.
The objectives of this registry are:
- To identify and register patients of Pakistani origin with muscular dystrophy ·
- To collect clinical and diagnostic data to monitor the natural history and progression of patients with muscular dystrophy ·
- To estimate the incidence and prevalence of muscular dystrophy in Pakistan ·
- To connect muscular dystrophy patients, their families and clinicians ·
- To improve the quality and standardization of care of patients with muscular dystrophy by creating awareness among healthcare providers ·
- To facilitate clinical, molecular, and therapeutic research, including clinical trials, related to muscular dystrophy
Who can participate?
Currently, patients with Duchene/Becker Muscular Dystrophy (DMD/BMD) or Spinal Muscular Atrophy (SMA) can participate in the registry. Patients can chose to participate directly or through their caregivers or healthcare provider.
What if I don’t know my diagnosis?
You need to contact your neurologist for the diagnosis. Your doctor will confirm your diagnosis with genetic testing. A list of our affiliate neurologists can be found here.
Are there any benefits to me if I take part in this study?
You may not receive any direct benefits if you take part in the registry. However, the information you provide will help us understand the prevalence of muscular dystrophies in Pakistan, and lay ground work for conducting clinical trials in the near future. It will also help us support activities to improve patient care and monitor natural progression of disease.
What will happen during my participation?
Once you register, you (the patient) will be asked to complete a questionnaire that may take 10-15 minutes of your time. Once you submit the questionnaire, it will be reviewed by one of our research team members for completeness. You may be contacted by our staff if we need additional information or clarification. Once all your information is verified, it will become permanent part of the registry. The registry will hold the following information about you or your child:
- Contact information (name, address, telephone, and email)
- Basic medical information (date of birth, gender, CNIC number)
- Biopsy result
- Genetic test results
- Pulmonary function tests
- EMG/NCS results
- Clinical assessments and disease progression results
If you consent, these will be uploaded/attached to your registry form.
What are my rights if I take part in this study?
Your participation in this study is voluntary. You may withdraw and discontinue participation at any time without penalty. At your request, the data will be deleted from our records.
Will it cost me anything to take part in the registry?
There is no cost to you to participate in the registry.
Is my/my child's information safe?
We will keep your private data secure. Master access to the data will only be with the research team. Results of research After that, any data used for publications, presentations or research will not have your name or personal information.
The registry has been approved by the National Bioethics Committee of Pakistan, Human Subjects Committee of Aga Khan University, and Institutional Review Board of the University of North Carolina at Charlotte.
What if I have any questions or concerns ?
If you have questions or concerns regarding your participation in the registry, contact Dr. Sara Khan or Dr. Ahmed Arif at email@example.com
At this time, the registry is only enrolling patients with Duchenne/Becker muscular dystrophy and Spinal Muscular Atrophy. Please click on the link below to register online. If you prefer to register via mail, please email us for a paper form.