To Register or Not to Register

Should you sign up with a research registry about your disease?

by Margaret Wahl on November 1, 2006 - 1:42pm

QUEST Vol. 13, No. 6

It seems as if everybody wants information about you these days. Try to get that rebate the salesman promised on your new computer, and the company wants to know how old you are, how much money you make and whether you went to college.

Phone surveys want to know what you think of your congressional representative, whether you’re planning to sell your house and what radio stations you listen to.

If you have a neuromuscular disease, there’s a good chance that you’ve been asked to participate in some sort of data collection, known as a registry, database or survey, about you, your family and your disease. And understandably, not everyone feels entirely comfortable going on record with this information.

Registries are proliferating these days, and we asked a few of the people who oversee them or participate in them what advice they have for those who are thinking of signing up.

Estimate how much of your time participation will take

Filling out forms, online or on paper, or answering questions orally, can be time-consuming. Joining a registry usually takes minutes to a few hours, but sometimes more if physician exams or tissue samples are part of the process.

“There’s a figurative line you have to draw to make sure that things of substance are in the registry,” says Michael Shy at Wayne State University in Detroit about designing a registry. He oversees the Charcot-Marie-Tooth (CMT) Disease North American Database, through an MDA grant.

“If you make it easier for the patient, you get less information. Our database takes a couple of hours to fill out, because it requires a detailed medical history, and it asks about symptoms and signs and if they’re taking this or that medication.

“You can make [the survey] shorter, but then you don’t get as much data. We chose to go the inclusive route.”

Assure yourself that your privacy will be protected

This is probably the area of greatest concern for families. HIPAA, the Health Insurance Portability and Accountability Act, went into effect in 2003 and is designed to protect health information from misuse.

When Diane Hardin, 57, of Madison Heights, Mich., was deciding whether to participate in the CMT North American Database, privacy was a major concern. She did participate, but only after assuring herself that “only CMT-type information would be used, not personal information.”

A reputable survey will go to great lengths to ensure that participants’ privacy is protected and to tell them how this will be accomplished. For instance, the information about the CMT database clearly states, “Your name and identifying information will NEVER be released without your written consent.”

One way to ensure privacy is for participants to enter identifiable data, such as names and addresses. Then a small number of database administrators will turn this information into numbers and release it only as blocks of statistics that can be used for research but can’t be used to identify any particular person.

If a researcher is looking for people to take part in a clinical trial, he or she has to go to the administrators, who will then contact qualifying participants and invite them to apply for the trial.

Some databases, such as Genzyme’s Pompe Registry, assure privacy by never collecting any identifiable information.

Understand the purpose of the registry or survey

Most people who take the time to participate in a registry want to know how the information will ultimately be used.

Physicians, says Jennifer Farmer, registry coordinator for the Friedreich’s Ataxia Research Alliance (FARA), based in Springfield, Va., can “learn more about the range of clinical symptoms, or how people with the same condition change over time,” information that’s often lacking for rare diseases.

And, she notes, if they want to conduct a research study, a registry can dramatically reduce the time and effort they have to spend finding participants.

Richard Finkel, an MDA clinic co-director at Children’s Hospital of Philadelphia, had clinical trials in mind when he designed a survey for parents of children with spinal muscular atrophy. (The North American part of this survey closed last month.)

He says that at a meeting with the Food and Drug Administration last year, speakers emphasized that the FDA is looking for trials that measure “clinically meaningful” changes, differences that mean something to patients and parents, not just to statisticians.

“If a drug improved a 10-meter walk test by one second, that might be statistically significant compared to the placebo,” Finkel says. “But what difference does that make to a child?”

The FDA wants to see meaningful measures built into trials from the start. “I wanted to see what benefit [parents] considered meaningful, so that investigators contemplating drug trials would know what to go after,” Finkel says.

He also wanted the parent survey to help him design trials that would enroll and retain adequate numbers of subjects.

“You need to design a trial that’s going to be something that parents or patients find acceptable. If you design a very difficult trial that asks too much, you may get a very low enrollment, or you may find that retention of patients in the trial may be poor.”

With that in mind, he built into the survey questions about how much risk parents were willing to take, how long they were willing to participate, how far they would travel to a study site, and whether they would enter their child into a study with a placebo group.

Robert Miller, who directs the MDA/ALS Center at California Pacific Medical Center in San Francisco, chairs the advisory board for the ALS CARE registry and has an MDA grant to oversee the ALS Connection.

The CARE registry, in operation since 1996, now includes data on more than 6,000 people with ALS, most of whom are being cared for at major medical centers. It’s paper-based (although the forms can be downloaded from the Web) and requires participation by the patient, his or her physician, and his or her caregiver.

“We’ve learned a lot about what treatments patients are using, whether the treatments were useful, and also whether the evidence-based guidelines approved by the American Academy of Neurology are being followed,” Miller says.

He adds that leads for new research projects have come from the ALS CARE program.

“For example, the finding that 35 percent of ALS patients in the program were veterans was a big surprise and led to a whole series of studies about the risk of ALS in veterans of military service. These have been very fruitful.”

The ALS Connection registry is newer and is designed to reach those who aren’t attending large specialty clinics. “They can participate in this research effort and help us to learn more about the standard of care and the satisfaction with care,” Miller says.

Find out who’s funding and overseeing the registry or survey

Diane Hardin says she had a great advantage over most potential registrants when she signed on to the CMT Database because neurologist Michael Shy oversees it, and he’s one of her doctors. “I need to know that the person who is doing it is honest, and I think Dr. Shy is,” she says.

Not everyone has that advantage, of course, but the registry’s Web site or paper information should clearly tell you what organization, government agency or company is sponsoring the research. It also should provide you with contact information in case you have further questions.

Find out what direct benefits participation may have for you

Biomedical engineer Chris Dandrea is the project manager for a Pompe disease (acid maltase deficiency) registry at the bio-pharmaceutical company Genzyme, which received market approval this spring for Myozyme, a treatment for Pompe disease.

The Pompe Registry enables a physician to answer questions about a patient’s clinical status and quality of life, via a secure, Web-based system, after the person has provided written permission.

Dandrea says that roughly a third of physicians who participate in the registry manage multiple Pompe patients in all aspects of the disease. The remaining doctors are typically focused on managing one or more symptoms of the disease, based on their specialties.

Because Pompe disease is so rare, Dandrea says, “educating the medical community is critical. The registry is one way to connect the experience of Pompe disease experts with those physicians who may be managing their first Pompe patient.

“One of the benefits of registry participation to the patient is that their physician is now a member of a network of Pompe disease experts around the world.”

He also notes that Genzyme sponsors an annual meeting of medical professionals involved with the registry.

“They can talk about new developments, new uses for the registry, and new analyses and publications using registry data. And we have also had leaders of patient organizations share their perspective about their quality of life and experiences with treatment.”

Since the approval of Myozyme in April, Dandrea says, “the big question is, because new treatment and support measures will impact the natural course of the disease over time, what are the health consequences? What new medical trends emerge as patients live longer?

“What will further improve patient care? Because at the end of the day, for these patients, that’s what you want to do. And one key to improving patient care is to collect and analyze as much patient data as possible over the long term.”

For people with disorders such as Friedreich’s ataxia, for which disease-modifying treatments are lacking, a desire to accelerate clinical research or to take part in it can be the main motivation for joining a registry.

The FARA Patient Registry is one way for people with Friedreich’s ataxia to learn about clinical trials they might want to take part in, says Farmer, although not all registrants will be eligible for all clinical trials. (It’s also important, she notes, to understand that joining a registry doesn’t mean that you have to participate in future research studies.)

Recognize red flags

Some red flags that should alert you to ask more questions or not to participate in a registry are:

  • no assurance of privacy protection
  • requests for financial information
  • absence of a clear purpose for the data collection
  • reluctance of the coordinators to answer your questions


Disease Registry Funding Source
Lateral Sclerosis
ALS CARE (Clinical Assessment, Research and Education) Sanofi-Aventis Pharmaceuticals and the ALS Association
Amyotrophic Lateral Sclerosis ALS Connection MDA
Charcot-Marie-Tooth Disease CMT North American Database MDA and Charcot-Marie-Tooth Association
Muscular Dystrophy
National Initiative for Families With DMD Centers for Disease Control & Prevention
Duchenne Muscular Dystrophy DMD Quality of Life Study Cooperative International Neuromuscular Research Group
Duchenne and Becker Muscular Dystrophies United Dystrophinopathy Project (variations in dystrophin gene) National Institutes of Health
Duchenne and Becker Muscular Dystrophies MD STARnet (Surveillance, Tracking and Research Network) Centers for Disease Control & Prevention
Friedreich’s Ataxia FARA (Friedreich’s Ataxia Research Alliance) Patient Registry Friedreich’s Ataxia Research Alliance
Myotonic MD and Facioscapu-lohumeral MD National Registry of Myotonic Dystrophy & FSHD Patients and Family Members National Institutes of Health
Myositis (Juvenile) Juvenile Myositis (Dermatomyositis, Polymyositis) Patient Registry Cure JM Foundation
Pompe Disease (Acid Maltase Deficiency) Pompe Registry Genzyme (biopharmaceutical company)
Spinal Muscular Atrophy International Spinal Muscular Atrophy Patient Registry International Coordinating Committee for SMA Clinical Trials
The registries listed here vary in their reliability with respect to data collection and privacy protection.
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