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Bardet-Biedl RESOURCES

BARDET-BIEDL Syndrome International Connecting people affected by the syndrome of Bardet-Biedl worldwide About BBS FOUNDATION BBS International is a federation that will enable us to collaborate together on a global scale, to unite efforts, to collect and publish information on the disease, to increase network cooperation, to improve research by avoiding unnecessary duplication. ​ Created on 03 October 2020 by 5 countries (France, USA, UK, Italy, Netherlands). Members are active national patient organisations representing patients and their families affected by BBS. Together, they are the voice of approximately 40,000 patients worldwide. « Bardet-Biedl syndrome is a rare disease, but many of you around the world are affected by it or one or more of your children. The announcement of such a diagnosis is hard and one can feel quite alone. Many countries in the world do not have a national association or the information to better understand the disease. This is also why the Federation was created, to break the isolation and answer your questions. You are not alone ! » ​ Join the community and get to know each other ! JOIN Our TEAM Véronique HELOIR Presidente Francis LESTEL Vice-President Patricia Dawn HATCHER Secretary Grégory BOUETEL Treasurer Contact US Send Thank you for your sending ! Bardet-Biedl Syndrome International 3 route des Essarts 26240 SAINT-UZE FRANCE

Who WE ARE With an increasing number of people and groups sharing common goals and working on common activities, it became clear that more could be achieved by working together than each group working alone. ​ The Bardet-Biedl Syndrome International Federation was created to serve as the central body for a network of national associations and other BBS patient support groups. Our OBJECTIVES The main objective of Bardet-Biedl Syndrome International is to create a platform for collaboration between national associations, support groups and networks, people with BBS and their families, and researchers and professionals working on Bardet-Biedl Syndrome. In more detail, the objectives of Bardet-Biedl Syndrome International are as follows : To find and build a network of all associations and families of people with BBS so that they perceive the federation as a reference point for creating a strong and united Bardet-Biedl community Promote, support and stimulate the exchange of knowledge and understanding of BBS at the international level between national associations to avoid unnecessary duplication of resources Coordinate international research efforts by bringing together research institutes and relevant professionals, To facilitate and promote communication between patients, health professionals, researchers and other organisations that support people with BBS.

связаться с нами Для этого заболевания характерна ассоциация с ожирением, пигментным ретинитом, постаксиальной полидактилией, поликистозом почек, гипогенитализмом и трудностями в обучении, которые обычно возникают через несколько лет после начала заболевания. Клиническая картина может быть различной, хотя у многих пациентов в течение болезни проявляются почти все признаки. Пигментный ретинит является единственным постоянным признаком после детского возраста. BBS также связан с другими тяжелыми признаками, включая диабет, гипертонию, врожденные пороки сердца и болезнь Гиршпрунга. ​ Синдром Барде-Бидля (СББ) описан на сайте :https://www.gsdinternational.com/ru/conditions/bardet-biedl-syndrome-bbs ​

Bardet-Biedl CLINICAL REGISTRY Clinical REGISTRY INVESTIGATING CRIBBS (For english speakers) ​ Because BBS is relatively rare and individuals with the disease are spread out across the world, no single medical center has the expertise to fully address the needs of individuals with BBS or to develop much needed new treatments. CRIBBS serves as a valuable tool to learn more about BBS and its impact on the health of a person. Information gathered in CRIBBS will be used to help families better understand the condition, to help healthcare providers provide timely preventative and comprehensive care, and to foster scientific efforts in understanding this complex disorder. ​ ​ ​ ​ Frequently Asked Questions : Why is a BBS registry important ? Bardet-Biedl Syndrome (BBS) is thought to affect approximately 2,500 people in the United States. Because BBS is relatively rare and individuals with the disease are spread out across the world, no single medical center has the expertise to fully address the needs of individuals with BBS or to develop much needed new treatments. CRIBBS serves as a valuable tool to learn more about BBS and its impact on the health of a person. Information gathered in CRIBBS will be used to help families better understand the condition, to help healthcare providers provide timely preventative and comprehensive care, and to foster scientific efforts in understanding this complex disorder. ​ How do I register for CRIBBS ? Clicking on this registration link will bring you to the registration page. You will be asked several simple questions so that we can contact you. We will not request confidential information such as social security numbers or driver’s license numbers. ​ What information will I have to provide to participate in CRIBBS ? Bardet-Biedl Syndrome (BBS) affects each person differently. To better understand how BBS affects you specifically, a member of our team will conduct a telephone interview that takes 90 to 120 minutes. In addition, we will ask you to complete two written assessment forms at your leisure. We will also ask you to sign medical release forms that allow us to obtain medical records from your healthcare providers. We will not ask for confidential information such as social security numbers or driver’s license numbers. ​ Who can see my information ? Your privacy is important to us. Your health information will be assigned a study number that will replace any information that may identify you. Medical records will be stored in a secured location and only individuals directly involved in CRIBBS will have access your information. Your information will not be shared with private organizations, such as insurance companies. Information will be compiled using the study identification numbers and shared with researchers and scientists trying to better understand BBS. ​ How often will the CRIBBS research staff contact me ? One important purpose of the registry is to monitor the ongoing health of individuals with BBS over time. As such, we will contact you annually to get an update on your health. In addition, you will be asked to repeat the two written assessments completed upon CRIBBS enrollment and we will contact your healthcare providers to obtain updated health records. If at any time, you wish to withdraw participation from CRIBBS, you are free to do so and you will no longer be contacted by CRIBBS staff. ​ Will I be contacted about participating in research studies ? Yes, we will alert you if researchers are seeking volunteers for research studies. We will not give your name or contact information to the researcher, but we will provide you the contact information for the researcher and provide you a brief summary of the study. ​ How does participation in CRIBBS help me or my child ? Participation in CRIBBS will help us learn more about the many ways BBS impacts the life and health of individuals. We will share this information through publications for the public and in professional journals. We believe that such knowledge will spark the interest of scientists, private industry, and government agencies to foster high quality care and the development of new and effective treatment strategies for individuals with BBS. ​ Comment référer mon enfant/moi-même à la clinique BBS ? En cliquant sur ce lien , vous accéderez au questionnaire de référencement. Veuillez télécopier le 715-387-5244, envoyer un courriel ( suda.sonia@marshfieldclinic.org ) ou envoyer le formulaire dûment rempli à : Sonia Suda 1000 N Oak Ave - GR3 Marshfield, WI 54449 ​ ​ ​ ​ PARTICIPATE IN THE COHORT PARTICIPATE IN THE COHORT COBBALT COhorte Bardet-Biedl et Alström Translationnelle (In France) ​ The principle is to collect clinical data from as many patients as possible in order to better understand the natural history of the disease in its most classic manifestations (vision, weight, renal function) but also to be able to identify rarer or even unknown manifestations. A quality of life study is also being carried out as well as the collection of biological samples for research purposes. ​ The promotion of the study is under the responsibility of the University Hospital of Strasbourg and the principal investigator is Pr Hélène Dollfus. The collection of consent for the study (signature for participation) must be done on site (for the moment, a compulsory visit to Strasbourg), but afterwards the data over 5 years can be collected remotely. This study is very important because it will allow to identify the criteria on which future clinical trials can be based and also to identify more precisely the known or still poorly known characteristics of the disease and also the needs of the patients. The team of the University Hospital of Strasbourg is counting on the participation of all and awaits your call at 06 35 34 09 00 or 03 69 55 19 62 or your message at cobbalt@chru-strasbourg.fr or nathalie.goetz@chru-strasbourg.fr in order to inform you at best. Reference Centre for Rare Diseases in Ophthalmological Genetics CARGO - IGMA1, Place de l'Hôpital 67091 STRASBOURG Cedex. ​ FOR MORE INFORMATION CONTACT US

Work IN PROGRESS IN FRANCE Visit IN GERMANY Visit IN USA Visit IN UK Visit

Our TEAM Administrative OFFICE Véronique HELOIR Presidente ​ Véronique is the mother of a little boy of almost 12 years old who has BBS6 and lives in France in the Drôme Provençale. After a career in the press and then in Real Estate, Véronique had to give up her professional activity to stay close to her son with special needs. Appointed President of the Bardet Biedl France Association in 2018, she and her team are working to increase awareness of the syndrome and to raise funds and interact with the various French doctors in charge of research for BBS. Francis LESTEL Vice-President ​ Francis leaves in France, he is an engineer and has participated in several international medical congresses, preparing abstracts for those who were unable to attend. He understands 11 languages and is the father of a 30 years old girl with BBS10. Dawn HATCHER Secretary ​ Vice-president of BBS Italy. Association created in 2009 with 30 registered families.Patricia is a teacher, she is bilingual English/Italian and mother of Christopher, 31 years old, diagnosed with BBS 25 years ago by Phil Beales. Grégory BOUETEL Treasurer ​ Grégory is Treasurer of the association Bardet-Biedl France. He also suffers from the syndrome. ​ Grégory lives in France and has his own company specialising in the field of event organisation (weddings, birthdays, lighting, etc.). The Board OF DIRECTORS Tim OGDEN USA ​ Tim is Managing Director of the Financial Access Initiative. He is also Managing Director of the US Financial Diaries project. Tim is the President of the Bardet Biedl Association USA. He is the father of Nathanael, a 14-year-old carrier of the syndrome. Bendert DE GRAAF NETHERLAND ​ Operations Manager at CCIC EUROPE Food Test BV Kampen (Overijssel), Province of Flevoland, The Netherlands. Bendert is the president of the Bardet-Biedl Stichting Association and father of a little boy with the syndrome. Tonia HYMERS UK ​ Tonia is the Service Manager for BBS UK Clinics Ltd. Tonia has two grown-up children, Daniel and Connor and lives in Harwich in Essex. The family attended their first conference in 1998 following the diagnosis of their son, Daniel, and were so grateful to the young people and adults with the syndrome for enabling them to picture a positive future. Tonia was happily coerced onto the Committee, where she stayed for the next 15 years, taking on the role of Fundraising Co-ordinator and then Newsletter Editor. Tonia assisted with the inception and development of the specialised BBS Clinics and was Children’s Service Manager from 2010 to 2017, when she took on the role of Service Manager. Matthias KIMM GERMANY ​ ​ Kjell ARNE NORWAY ​ ​ The SCIENTIFIC ADVISORS Phil BEALES UK ​ Phil Beales is head of Genetics and Genomic Medicine at ICH, Director of the Centre for Translational Genomics (GOSGENE) and head of the Cilia Disorders Laboratory (CDL). His research interests centre on rare diseases, especially the ciliopathies, a class of disorders caused by defects in the formation or function of the cilium. Hélène DOLLFUS FRANCE ​ Hélèn e Dollfus is University Professor and Hospital Practitioner (PU-PH) in medical genetics and ophthalmology. Head of the Medical Genetics Department at the University Hospitals of Strasbourg (HUS), she coordinates the CARGO (Affections rares en génétique ophtalmologique) reference center, as well as the SENSGENE national rare disease network. Director of the Medical Genetics Laboratory (Inserm/Unistra), she is also the driving force behind the Institut de Génétique Médicale d'Alsace (IGMA). Chairwoman of the Scientific Advisory Board of the Retina France patients' association. Hélène Dollfus is also coordinator of ERN-EYE, the European reference network for rare eye diseases. ​

Become a MEMBER The Federation accepts new members from BBS or similar associations in Europe and around the world. The applicant organisation can pay by bank transfer or credit card by following the links below. Becoming a member will make the Federation stronger and you will be involved in all the initiatives of the Federation. How to become A MEMBER : The fee of 100 € gives you the status of a full member and the right to vote at general meetings . It will contribute to all the operating costs of BBSI. It is an annual membership fee which can be paid by bank transfer or credit card. To become a full member, your organisation must be a properly constituted non-profit organisation in your home country. BY TRANSFER BY CREDIT CARD There is no association in your country ? ​ Register for free with our community and tell us your story. You will be able to send us a message and ask your questions and also attend our meetings. ​ Join us

Clinical MANIFESTATIONS visual disturbance Yeux Almost all children with Bardet-Biedl Syndrome suffer from decreased vision, most often starting around the age of 5-6 years. It starts with a decrease and then a gradual loss of vision at night or when the light is a little dim. The child sees very little in the dark, but this may go unnoticed when he is small. ​ The field of vision gradually narrows at the sides, giving the impression of looking through an increasingly narrow tube (so-called "tubular vision"). The quality of vision deteriorates greatly during adolescence. Sometimes, other ocular manifestations may be associated with it: blurred distance vision (myopia) or distorted vision (astigmatism), both of which can be corrected with glasses, opacification of the crystalline lens (cataract) leading to a progressive decrease in vision, the appearance of abnormal jerky eye movements (nystagmus), problems with colour distinction, etc. Eventually, central vision can also be affected, making the patient visually impaired. ​ The visual disturbances characteristic of Bardet-Biedl syndrome are due to an impairment of the retina, called retinopathy pigmentosa. The retina is the surface of the back of the eye that receives images, much like a photographic film, and transmits them to the brain in the form of electrical signals. OVERWEIGHT Poids Despite a normal birth weight, affected children are almost always significantly overweight from the first year of life. This overweight often evolves into severe obesity, especially in the trunk area. Sometimes the height is smaller than average. ABNORMALITIES OF TOES & FINGERS Doigts There are often, but not in all cases, malformations of the toes and fingers that are smaller than normal (brachydactyly). There are often six fingers and/or six toes instead of five, with the supernumerary finger(s) located next to the fifth finger (the little finger). This is called postaxial polydactyly. In addition, some children have two or more fingers joined together, i.e. not well separated, and connected by a membrane (webbed fingers or syndactyly). ABNORMALITIES OF the genital organs Organes génitaux In boys, the genitals, penis and testicles, are often abnormally small (hypogonadism). In girls, malformations of the genital organs are also possible. The vagina may be closed by a partition, which causes the uterus to expand, often detected before birth (hydrometrocolpos). KIDNEY AND URINARY DEFORMITIES Reins Malformations of the kidneys and urinary tract are very common. They can be serious and, in a significant number of cases, lead to malfunction of the kidneys, whose function is to filter the blood and allow waste products to be eliminated through urine. ​ In people with Bardet-Biedl syndrome, the progressive reduction in kidney function, known as chronic kidney failure, may require the use of an artificial kidney and lead to a kidney transplant. One of the consequences of this kidney damage is an increase in blood pressure (hypertension), which occurs in more than half of adults. Even if there are no kidney malformations, problems can occur in regulating the amount of water in the body. This is manifested by an increase in the volume of urine (regardless of the volume of liquid absorbed), with a frequent need to urinate, as well as by intense thirst (this is called diabetes insipidus). intellectual deficiency & PSYCHOLOGICAL DISORDERS Intellect The intellectual deficit is not always present. When it does exist, it is moderate or rarely severe. Most often, it is limited to learning difficulties that can be aggravated by vision problems. Affected children may also have a delay in language acquisition (they speak later than others), as well as phonation disorders (abnormal way of producing sounds). There may also be hearing loss (hearing loss), which is often mild and goes unnoticed. Psychological or behavioural disorders may appear in some people in the course of their lives. These disorders include emotional instability, frequent tantrums, inappropriate or uninhibited behaviour (with no idea of what is or is not done), with more rarely obsessive-compulsive behaviour (i.e. repetitive actions, such as washing hands very frequently). However, these disorders only affect a few patients and it is not always clear whether they are directly linked to the syndrome. OTHER MANIFESTATIONS Autres Diabetes (too high blood sugar levels) can also set in, as in many obese people. It initially manifests itself by intense tiredness, thirst and hunger, but over time it can lead to serious complications such as kidney failure, an increased risk of heart attacks and infections, nerve damage that can cause loss of feeling in the hands and feet, etc. It can be treated with medication. Very rarely, incoordination of movements can occur, manifesting itself as abnormalities in staggering gait or poorly coordinated hand movements. In rare cases there are malformations of the heart, in particular communication between the different chambers (atria or ventricles) or narrowing of the heart valves (valvular stenoses). Long-term (chronic) constipation, when present, may be due to Hirschsprung's disease, which is a lack of contraction of the large intestine (colon) which leads to its dilation.

Contacto A síndrome de Bardet- Biedl, caracteriza-se pela associação de défice visual progressivo, obesidade, polidactilia, problemas renais, hipogenitalismo nos homens e anomalias genito-urinárias na mulher e dificuldades de aprendizagem. Transmite-se de forma autossómica recessiva e foram identificados 24 genes associados a BBS, mas em cerca de 20% a causa ainda é desconhecida. Estima-se uma prevalência de 1/150.000. As manifestações mais frequentes são: Retinite pigmentar de tipo cone e bastonete (>90%). Esta alteração pode não ser identificável até por volta dos 8 anos, quando se inicia diminuição da visão nocturna; aos 20 anos 75% dos doentes perderam completamente a visão. Polidactilia postaxial (dedo supranumerário na metade externa das mãos e /ou pés) ocorre em cerca de 80%. Obesidade (90%) inicia-se na infância e é essencialmente do tronco. Ao nascer o peso é habitualmente normal. Não controlada, podem surgir outros problemas associados: diabetes, hipertensão, hiperlipidemia. Dificuldades de aprendizagem são frequentes (60%), embora na maioria não exista um défice cognitivo significativo. Défice de atenção, processamento lento e traços obsessivos, compulsivos são comuns. Anomalias genitais (60-90%). No sexo masculino manifesta-se por hipogonadismo com pénis e testículos pequenos, criptorquidia, ausência de caracteres sexuais secundários, atraso pubertário, infertilidade. No sexo feminino podem existir malformações genito-urinárias como ausência ou hipoplasia da vagina, útero, trompas, ovários, imperfuração vaginal, fistulas….e também atraso pubertário, amenorreia, diminuição da fertilidade, mas há casos de gravidez Alterações renais (displasia, doença quística…) ocorrem em 50 a 70% dos casos e podem conduzir a falência renal. Foi sugerido como critério de diagnóstico clínico de BBS a presença de 4 das manifestações acima referidas ou 3 delas e mais duas das seguintes: cardiopatia, diabetes, alterações dentárias, hepáticas, intestinais (hirshprung), anosmia (ausência de cheiro),braquidactilia/sindactilia (dedos curtos/unidos), descoordenação motora/ ataxia, atraso global de desenvolvimento, atraso da linguagem

​ Das Bardet-Biedl-Syndrom (BBS) ist eine seltene genetisch bedingte Erkrankung, bei der verschiedene Symptome in unterschiedlicher Ausprägung auftreten können. Zu den Hauptsymptomen zählen: Netzhautdystrophien Übergewicht Überzählige Finger und / oder Zehen Nierenerkrankungen Entwicklungsverzögerung Unterentwicklung der Geschlechtsorgane Das Bardet-Biedl-Syndrom wird autosomal rezessiv vererbt. Nähere Informationen zum Bardet-Biedl-Syndrom sowie zu den Aktivitäten der BBS-Gruppe finden Sie hier ​ Uns kontaktieren