Developing and evaluating rare disease educational materials co-created by expert clinicians and patients: the paradigm of congenital hypogonadotropic hypogonadism.
Patients with rare diseases face health disparities and are often challenged to find accurate information about their condition. We aimed to use the best available evidence and community partnerships to produce patient education materials for congenital hypogonadotropic hypogonadism (CHH) and the olfacto-genital (Kallmann) syndrome (i.e., CHH and defective sense of smell), and to evaluate end-user acceptability. Expert clinicians, researchers and patients co-created the materials in a multi-step process. Six validated algorithms were used to assess reading level of the final product. Comprehensibility and actionability were measured using the Patient Education Materials Assessment Tool via web-based data collection. Descriptive statistics were employed to summarize data and thematic analysis for analyzing open-ended responses. Subsequently, translation and cultural adaption were conducted by clinicians and patients who are native speakers.



Co-created patient education materials reached the target 6thgrade reading level according to 2/6 (33%) algorithms (range: grade 5.9-9.7). The online survey received 164 hits in 2 months and 63/159 (40%) of eligible patients completed the evaluation. Patients ranged in age from 18 to 66 years (median 36, mean 39 ± 11) and 52/63 (83%), had adequate health literacy. Patients scored understandability at 94.2% and actionability at 90.5%. The patient education materials were culturally adapted and translated into 20 languages (available in Additional file 1).



Partnering with patients enabled us to create patient education materials that met patient- identified needs as evidenced by high end-user acceptability, understandability and actionability. The web-based evaluation was effective for reaching dispersed rare disease patients. Combining dissemination via traditional healthcare professional platforms as well as patient-centric sites can facilitate broad uptake of culturally adapted translations. This process may serve as a roadmap for creating patient education materials for other rare diseases.
Department of Endocrinology, National Institute of Endocrinology, C. Davila University of Medicine and Pharmacy, Bucharest, 050474, Romania.
Corin
C
Badiu
Deptartment of Clinical Sciences & Community Health and the Division of Endocrine and Metabolic Diseases & Laboratory of Endocrine and Metabolic Research, University of Milan, Milan, Italy.|Ospedale San Luca, IRCCS Istituto Auxologico Italiano, Piazzale Brescia 20, 20149, Milan, Italy.
Marco
M
Bonomi
Patient Advocacy Working Group and the International Medical Interpreters Association, Pyatigorsk, Russia.
Ivan
I
Borshchevsky
University Hospital Ghent Department of Pediatric Endocrinology, Ghent University, De Pintelaan 185, 9000, Ghent, Belgium.
Martine
M
Cools
University Hospital Ghent Department of Pediatric Endocrinology, Ghent University, De Pintelaan 185, 9000, Ghent, Belgium.
Margarita
M
Craen
University of Medicine and Pharmacy "Iuliu Hatieganu", 8, V Babes str., 400012, Cluj-Napoca, Romania.
Cristina
C
Ghervan
Endocrinology, Diabetes & Obesity Service of the Department of Pediatric Medicine and Surgery, Children's Hospital of Lausanne, Chemin de Montétan 16, 1004, Lausanne, Switzerland.
Michael
M
Hauschild
Pediatric Endocrinology and Metabolism Unit, Faculty of Health Sciences, Soroka Medical Center, Ben-Gurion University of the Negev, PO Box 151, IL-84101, Beer-Sheva, Israel.
Eli
E
Hershkovitz
Laboratory of Endocrine Neurobiology of the Institute of Experimental Medicine of the Hungarian Academy of Sciences, 43 Szigony St., 1083, Budapest, Hungary.
Erik
E
Hrabovszky
Department of Growth and Reproduction GR, Rigshospitalet section 5064, Blegdamsvej 9, 2100, Copenhagen, Denmark.
Anders
A
Juul
St. George's Medical School of the University of London, Molecular & Clinical Sciences Research Institute, Cell Biology & Genetics Research Centre, Cranmer Terrace, London, SW17 0RE, UK.
Soo-Hyun
SH
Kim
Clinical Center of Endocrinology, Medical University, 2 Zdrawe St, 1431, Sofia, Bulgaria.
Phillip
P
Kumanov
Autónoma University of Madrid, Hospital La Paz Institute of Health Research (IdiPAZ), Endocrinology and Nutrition Service of La Paz University Hospital, Castellana 261, 28046, Madrid, Spain.
Beatriz
B
Lecumberri
CICS-UBI, Health Sciences Research Centre, University of Beira Interior, Covilha, 6200-506, Portugal.
Manuel C
MC
Lemos
Department of Molecular Genetics of the Cyprus Institute of Neurology and Genetics, P.O. Box 23462, Nicosia, Cyprus.
Vassos
V
Neocleous
Department of Pediatric Endocrinology and Rheumatology, Poznan University of Medical Sciences, Szpitalna Street 27/33, 60-572, Poznan, Poland.
Marek
M
Niedziela
School of Medicine, University of Belgrade & Clinic of Endocrinology, Diabetes and Metabolic Diseases, University Clinical Center Belgrade, dr Subotic 13, 11000, Belgrade, Serbia.
Sandra Pekic
SP
Djurdjevic
Ospedale San Luca, IRCCS Istituto Auxologico Italiano, Piazzale Brescia 20, 20149, Milan, Italy.|Department of Clinical Sciences & Community Health, University of Milan, Milan, Italy.|Division of Endocrine and Metabolic Diseases & Laboratory of Endocrine and Metabolic Research, Milan, Italy.
Luca
L
Persani
Endocrinology, Diabetes & Obesity Service of the Department of Pediatric Medicine and Surgery, Children's Hospital of Lausanne, Chemin de Montétan 16, 1004, Lausanne, Switzerland.
Franziska
F
Phan-Hug
Department of Endocrinology, Hospital S João, Alameda Hernani Monteiro, 4200, Porto, Portugal.
Duarte
D
Pignatelli
University of Lausanne and the Endocrinology, Diabetes & Metabolism Service, Lausanne University Hospital, Rue du Bugnon 46, Lausanne, 1011, Switzerland.
Nelly
N
Pitteloud
School of Medicine, University of Belgrade, dr Subotic 8, 11000, Belgrade, Serbia.
Vera
V
Popovic
University of Newcastle-upon-Tyne, Institute of Genetic Medicine and the Royal Victoria Infirmary, Newcastle-upon-Tyne, NE1 3BZ, UK.
Richard
R
Quinton
Division of Pediatric Endocrinology, Paedi Center for specialized Pediatrics, Nicosia, Cyprus.|St George's University of London Medical School at the University of Nicosia, Nicosia, Cyprus.
Nicos
N
Skordis
Patient Advocacy Working Group, London, UK.
Neil
N
Smith
University Medical Centre Ljubljana, University Children's Hospital, Dept. of pediatric endocrinology, diabetes and metabolism, Bohoriceva ul. 20, 1000, Ljubljana, Slovenia.
Magdalena Avbelj
MA
Stefanija
University of Lausanne and the Endocrinology, Diabetes & Metabolism Service, Lausanne University Hospital, Rue du Bugnon 46, Lausanne, 1011, Switzerland.
Cheng
C
Xu
Service d'Endocrinologie et des Maladies de la Reproduction, Hôpital Bicêtre, Le Kremlin-Bicêtre, 94275, France.
Jacques
J
Young
University of Lausanne, Institute of Higher Education & Research in Healthcare and the Endocrinology, Diabetes & Metabolism Service of the Lausanne University Hospital, Route de la Corniche 10, Lausanne, 1010, Switzerland. andrew.dwyer@chuv.ch.
Andrew A
AA
Dwyer
D000465:Algorithms; D057220:Health Literacy; D006801:Humans; D007006:Hypogonadism; D017436:Kallmann Syndrome; D009729:Nursing; D010353:Patient Education as Topic / Q000379:methods*; D035583:Rare Diseases
Community based participatory research; Congenital hypogonadotropic hypogonadism; E-health; Kallmann syndrome; Nursing; Patient education; Patient participation; Patient-centered care; Rare diseases