At a Glance:

• The Alzheimer Biomarker Consortium – Down syndrome (ABC-DS) at the Waisman Center is partnering with researchers and organizations in Puerto Rico to develop infrastructure to create an ABC-DS site on the island with the goal of increasing representation of Hispanics with Down syndrome in Alzheimer’s disease research.
• The ABC-DS is an ongoing study that follows a group of adults with Down syndrome to identify signs and risks of Alzheimer’s.
• Five Puerto Rican families will travel to Wisconsin for parts of the research study, but the goal is to build the infrastructure to eventually conduct the studies on the island.

Individuals with Down syndrome have a high risk for Alzheimer’s disease, with around 90% developing the disease in their lifetime. By age 40, virtually all individuals with Down syndrome have brain changes consistent with Alzheimer’s, with clinical symptoms such as memory declines occurring in the mid-50s on average.

The risk for Alzheimer’s disease, both in Down syndrome and the general population, is affected by genetics, lifestyle, and socioeconomic status, which can vary greatly in different cultures. However, many groups like Hispanics remain underrepresented in research on the condition, leading to results that cannot be generalized to a broader population. 

The Alzheimer Biomarker Consortium – Down syndrome (ABC-DS) at the Waisman Center, University of Wisconsin-Madison is partnering with researchers and organizations in Puerto Rico to develop infrastructure to create an ABC-DS site on the island with the goal of increasing representation of Hispanics with Down syndrome in Alzheimer’s disease research.

The ABC-DS was launched in 2020 and is an ongoing study that follows a group of adults with Down syndrome to identify signs and risks of Alzheimer’s. The hope is to inform future clinical trials for treatments, and improve the quality of life of those living with the condition. Expanding the study population by including Puerto Rico as a study site will allow for a better understanding of health disparities, and lead to results that will be reflective of a broader population.

“If we want to open the door for clinical trials we need to make sure that we understand how this disease unfolds and is shaped by lifestyle across the full population of people with Down syndrome,” says Sigan Hartley, PhD, Waisman investigator and 100 Women Distinguished Chair in Human Ecology, who co-leads the study at the Waisman Center with Brad Christian, PhD, Waisman investigator and UW-Madison professor of medical physics and psychiatry. “And by clinical trials, I don’t just mean pharmaceuticals, but also lifestyle prevention efforts such as exercise or diet interventions, and interventions to increase social engagement,” she adds.

Reaching the families

The process of creating a site on the island involves three major steps. The first is interviewing Puerto Rican families of individuals with Down syndrome to better understand their perspective on participating in biomedical research and learn recruitment strategies for future studies. 

The Wisconsin researchers began a collaboration with the University of Puerto Rico and the Fundación Puertorriqueña Síndrome Down (FPSD; Puerto Rican Down Syndrome Foundation) to recruit Puerto Rican individuals with Down syndrome and their families into the study.

“Among the Latino families, if you have an organization [like the FPSD] backing it up, it will work better,” says Luis Columna, PhD, professor of kinesiology and Waisman Center affiliate, who leads the Puerto Rican effort along with Hartley.

The FPSD is a non-profit organization established in 1989 that offers resources and services to individuals with Down syndrome and their families, including daycare, employment support, therapy programs, adapted physical education, workshops, and more. Their collaboration facilitates reaching families that may be willing to participate in the research study.

“When we talk to parents [at the foundation], they feel very committed and want to participate because they’ve started seeing some regressions in their kids, which they don’t have very much information on,” says Stephanie Ávila Berríos, M. Ed., executive director of the FPSD. She says the topic of Alzheimer’s disease in Down syndrome is relatively new to them, and she hopes that their participation can help parents learn about early signs of the disease and how to manage it early on.

“We agree with this collaboration because if there is research being done about our population, we want to be included,” says José Torres, president of the board of directors of the FPDS and father of Frances Torres, who has Down syndrome.

Building the infrastructure

The second step of building the infrastructure that allows for Puerto Rico to be an ABD-DS site is to train Puerto Rican scientists. Many of the tests and data collection administered by the ABC-DS are highly specialized. It includes brain scans, collection of blood and cerebrospinal biofluids, and a battery of cognitive measures and informant-reports which are available in Spanish. “One of the strengths of ABC-DS is we put a lot of time into making sure everything is harmonized or done the same way across sites. So, we have to certify research teams on the procedures and tests,” Hartley explains. The Wisconsin scientists partnered with the University of Puerto Rico and trained three Down syndrome health professionals to conduct a subset of the ABC-DS battery. Dr. Carol Salas, associate professor at the University of Puerto Rico, Medical Sciences Campus leads this collaboration in the island.

Long-term, the goal is for all parts of the study including brain imaging to be done on the island as well. For now, the researchers are flying in five families from Puerto Rico to the Wisconsin site to complete the imaging portions of the study – with all costs covered on top of financial compensation.

The third part of the process is for families to go through the research study.

Flying to Wisconsin

The Martínez-Raguan family was recruited through the FPSD, where Axel works and Ramón volunteers. “I’ve had the experience of seeing many adults with Down syndrome pass away with Alzheimer’s. Kids that were close to me,” says Ramón Martínez. He recognizes that while the study may not have a direct impact for his son, who is 50, it may have a significant impact for the younger generation of individuals with Down syndrome.

Columna and Hartley hope that the information acquired through this study will help better understand the attitude and barriers for research participation in Puerto Rican adults with Down syndrome and their families, as well as provide insights into signs and risks of Alzheimer’s disease in this community. They will use their experience creating this site in Puerto Rico to expand and adapt the learned strategies to other Latino communities and inform the establishment of new sites in predominantly Hispanic areas.

Eventually, these efforts may help build opportunities for clinical intervention trials to delay or prevent Alzheimer’s disease in Puerto Rico. Findings from the study can help ensure such trials are informed by the preferences, experiences, and lifestyles of Puerto Ricans. “If we are part of the study, we will be part of the solution too,” Ramón Martínez says.