FSHD Registry

Posted by Terry Elsas Colella on Nov 21, 2016

What is the purpose of the National Registry of FSHD Patients and Family Members and how does it work?

The FSHD Registry was created in 2000 with funding from NIH. Its purpose is to collect information to help us better understand FSHD and help connect patients to researchers. Individual identifiable patient data is never shared with anyone outside of the Registry. Researchers can analyze the anonymized data from all the patients or from patients with particular characteristics. For researchers or drug companies interested in recruiting individual patients for studies, the registry will contact patients who qualify to let them know about the studies and who to contact.

Is the National Registry based in Rochester, NY the only one in the USA?

It is the only national registry of its type in the USA. It is also the oldest registry having started collecting data in 2000.

Why is a registry important?

A registry is important for several reasons: It helps us better understand FSHD by collecting and analyzing data on a large number of individuals with FSHD, it helps connect individuals with FSHD to researchers working in the field, and it helps speed up recruitment for clinical trials. Since the National FSHD Registry is 16 years old it also gives us valuable information about how FSHD progresses over time. This type of information is helpful for clinicians taking care of patients with FSHD and is also valuable for researchers planning drug trials.

How many people do you have in your registry of FSHD patients?

There are currently about 950 individuals with FSHD in the Registry.

Is that a good guide as to how many people have FSHD in the United States?

No, it does not. This is a voluntary registry and so only those who choose to participate are included. Given what we know about the frequency of FSHD, it represents only a fraction of the total number of patients in the USA.

How can a person with FSHD join the registry?

One can join the Registry by downloading the necessary forms online and sending them to the Registry.

Why is genetic testing needed for research/clinical studies?

Genetic testing in important because researchers want to make sure that the patients being studied are truly all FSHD. Although FSHD has characteristic clinical features, other forms of muscular dystrophy can sometimes look like FSHD.

Isn't it enough to know that parents have it, and you have a confirmed case due to your symptoms?

Yes, in most instances, it is sufficient.

Genetic testing is expensive. Does insurance pay for this?

Yes, genetic testing is expensive, especially in FSHD because the test is more complicated than testing for other genetic diseases. Some medical insurance companies will cover the cost of testing but many will not or will require detailed justification by the physician ordering the test. How often the cost is covered also varies from state to state. Sometimes, when the physician appeals the refusal, the company will give in, especially if the physician talks to the insurance company’s medical director.

If one parent has FSHD, do you recommend that they have genetic testing done on their children?

If the children are minors and show no signs of FSHD, the recommendation is that the children should not be tested. Identifying an unaffected minor may lead parents to, consciously or unconsciously, change their behavior towards that child and limit what they do physically when there is no reason for that. When children with one affected parent become adults and are planning to have a family, they can decide as adults to get tested.

Would you see a future reason for early testing?

When a treatment is available that can prevent the progression to FSHD, early testing would be justified.

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