Factor-H draws narratives of patients, at-risk children to the forefront of its conference
As you entered the Blue Gardens conference center in Barranquilla, Colombia, and the elevator doors opened, life-sized images of kids at-risk for Huntington’s disease (HD) spread throughout the lobby like trees in a forest. Behind them, images of HD patients living in conditions of extreme vulnerability in Venezuela — a reminder of the future that is certain to arrive for these children. Forced to walk around these images, conference attendees could reflect on the real impact of this devastating genetic disease on generations to come.
The exhibition, displaying photographs from Vladimir Marcano, an artist from Caracas, Venezuela, guided the public and the 26 speakers into what was imagined to be a different kind of conference, which aimed to bring together world-leading clinicians and scientists, family members, children at risk, and social workers — communities that too often are disconnected in the efforts to help people afflicted with this rare neurodegenerative disorder. During the conference, Vladimir gave a stunning seminar about this work documenting the situation of HD families in Zulia State, home to the largest cluster of HD in the world.
Organized by Factor-H
The 2nd HD Latin American conference was organized once again by Factor-H in Barranquilla, Colombia, from October 19-21, 2022.
Factor-H is a nonprofit organization based in Los Angeles, United States, with the mission of improving the quality of life of families living with HD in conditions of extreme vulnerability in Latin America. Founded in 2012, Factor-H works to bring together families, associations, clinicians, artists, and scientists to provide help to those most in need, including the hundreds of affected families in the regions of the world with the highest incidence of the disease in Zulia State (Venezuela), Caribbean Coast of Colombia, and Cañete (Perú). The contribution of the Venezuelan families to the understanding of the disease and the original identification in 1993 of the causative gene for HD was a central theme of the conference, but these populations continue to be marginalized, lacking access to genetic testing and sustained medical care.
The day before
The conference brought together patients, caregivers, community leaders, health professionals and leading clinicians and scientists from Europe, North America and Latin America. The main goal was to provide a forum for the types of human connections that can extend well beyond the gathering of experts during a few days. Therefore, HD professionals spent 3 days, including all social events, with affected families and children at risk from HD.
The day before the conference, in the first meeting of its kind, representatives of the associations from many Latin American countries, including Mexico, Costa Rica, Panama, Colombia, Venezuela, Perú, Brazil, Argentina, and Chile discussed the challenges that their patients and families face while seeking optimal integral medical care. In most countries, the representatives’ comments indicated that a collective strategy might be needed to improve access to care, enable access to information for health professionals and families alike, and support HD families from a social perspective. Several areas were highlighted – physician education, lack of access to health, lack of educational guides in Spanish for families, lack of cohesiveness within countries where several organizations exist and do not cooperate, and the inability to reach many families living outside the countries’ capital cities, who lack access to professionals and social support.
The conference opened with seminars about the work being done to assist the largest clusters in Latin America. Ignacio Muñoz-Sanjuán spoke about the vision of Factor-H and the organization’s four areas of work – health management, youth, community development and data collection.
Dr. Claudia Perandones, a clinician from Argentina and co-founder of Factor-H, spoke about the various clusters of the disease in Latin America and summarized the major contributions of these communities to the advancement of HD research and disease understanding.
Selene Capodarca, from the Enroll-HD team, described the platform and longitudinal studies with more than 30,000 participants in this worldwide program managed by CHDI Foundation. Enroll-HD also started 10 years ago, and the Factor-H meeting became a celebration of this program’s achievements. Several Latin American HD clinical centers of excellence from Chile, Argentina, Colombia, and Perú are now part of this effort, which will facilitate improved care for patients and their participation in clinical studies.
Representing Factor-H’s work in Venezuela, Marina González de Kauffman, president of the NGO Habitat LUZ in Maracaibo, spoke about the work carried out since 2018, to support the more than 500 families identified, most of whom live in conditions of poverty or extreme poverty.
Finally, Dr. Roger Cachope, vice president of Factor-H, summarized the work Factor-H has carried out with local universities on the Caribbean Coast of Colombia, where the largest concentration of families resides in the country.
The remaining scientific and medical seminars covered a range of topics, from symptom management to presentations from leading clinicians and scientists conducting clinical trials for novel therapeutic agents in HD, including clinical management strategies of HD symptoms:
- Dr. Erik van Duijin from the Netherlands spoke about psychiatric manifestations of the disease, and how to manage those symptoms, which have devastating consequences for patients and families alike, including a high incidence of depression, apathy and suicidal ideation.
Dr. Saul Martinez-Horta from Barcelona, Spain, spoke about the cognitive deficits in HD, presenting case examples from his clinical practice.
Dr. Bernhard Landwehrmeyer from Ulm University in Germany summarized current therapeutic trials with novel experimental treatments, including gene therapy agents and small molecule treatments targeting HTT expression, a recently complete deep brain stimulation (DBS) clinical trial conducted in Europe, and novel symptomatic treatments in late stages of clinical development.
Dr. Michael Hayden spoke about the development of pridopidine, a drug from Prilenia targeting the sigma-1 receptor, currently in Phase III trials, and a talk from Dr. Daniel Ciriano from Roche, describing the ongoing and future clinical trials with Tominersen, an antisense oligonucleotide targeting HTT expression, the first HTT-targeting therapeutic agent ever to demonstrate a decrement in HTT protein expression in HD patients.
Interspersed with those presentations, leading HD specialists from Perú (Dr. Mario Cornejo), México (Dr. Arturo Abundes Corona), Brazil (Dr. Roberta Saba), Argentina (Dr. Emilia Gatto), Chile (Dr. Pedro Chaná), and Colombia (Dr. Francisco Lopera) described the context surrounding access to care in their countries, as well as their research and clinical work.
On another of the ancillary activities, aiming to improve the role of caregivers, Dr. Roger Cachope from Factor-H, in coordination with professionals from University of Antioquia, Metropolitan University of Barranquilla, University of Virginia, and the Center on Movement Disorders - Chile, had a series of day-long educational workshops for caregivers with practical advice for caring for patients at all stages of the disease process. Techniques for improving care at home, feeding, avoiding bed sores, and improving communication between caregivers and patients (and between family members) were presented and explained. There were also speech therapy and mobility exercises including dance techniques taught virtually by Dr. Greg Youdan from New York. More than 100 caregivers and family members attended the workshops and benefited from the courses.
A final session included a meeting of leading HD physicians from Latin America, chaired by Dr. Claudia Perandones, as part of Factor-H efforts to generate an evidence-based clinical consensus for the continent following the GRADE methodology. The Grading of Recommendations Assessment, Development and Evaluation (GRADE) approach provides a system for rating quality of evidence and strength of recommendations that is explicit, comprehensive, transparent and pragmatic, and is increasingly being adopted by organizations worldwide. The process to generate evidence-based criteria for optimal HD symptomatic treatments suitable for Latin America started in December of 2020 in a program financed by Roche.
The aims of the consensus include:
To promote the implementation of the international guidelines for diagnosis, genetic counseling, prevention, healthcare, treatment and rehabilitation validated at a global level in patients in the Latin American region.
Strive for the comprehensive application of the knowledge derived from research, both in prevention strategies as well as in the diagnosis and treatment of the affected population.
To generate multidisciplinary work teams to ensure proper treatment, rehabilitation and genetic counseling for the affected patients and their families.
During the conference, several documentary videos depicting the conditions of the Latin American families were shown, including videos from Colombian photographer Charlie Cordero, and from Dimitri Poffé, a French HD advocate who is cycling on his bike from Mexico to Argentina to raise awareness about the disease.
The conference ended with a very moving short video of the Venezuelan colleagues and family members. In the video, Gindel Delgado, a Caracas-based journalist and filmmaker, showed the dual nature of Factor-H’s work: the devastation of the situation for these families, and the hope of a better future. Amongst the faces of at-risk children (the future of HD), were the faces of the scientists, clinicians, social workers and other caring professionals who have taken this journey to bring change to those who need it most.
At night, we celebrated our journey together in an evening of great food, amazing music, and above all: solidarity. Patients and doctors alike danced next to one another, laughing and remembering that this disease has brought us together in a dance of hope of a better future.