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List of the disease(s) in question: rare intestinal malabsorptions by intestinal familial hypocholesterolemia (Abetalipoproteinemia and Chylomicron Retention Disease).

Identification of the structure: CarMeN research laboratory (Cardiovascular, Metabolism, Diabetology and Nutrition), Bron

Identification of the project manager: Pr Noël Peretti

Project presentation: presentation of the project : Genetic hypocholesterolemia groups together 5 hereditary pathologies. The rarity of these diseases and their non-specific symptoms cause a delay in diagnosis which is penalizing for patients. Indeed, in the absence of treatment, neuro-ophthalmic complications appear, which can lead to blindness.

These complications are mainly the consequence of a deficiency in vitamins E and A. The few known cases show that treatment with high doses of vitamins E/A prevents the main neurological complications; however, deterioration of vision in adolescence or adulthood can occur despite early treatment, which shows the involvement of other factors. Preliminary laboratory results reveal in these patients, very low β-carotene concentrations, and significant oxidative stress. This deficiency and oxidative stress could justify carotenoid supplementation.

Project Objectives:

• I - Characterize macular pigment in patients with genetic hypocholesterolemia and its evolution over time ;
• II.1 - To measure the carotenoid deficiencies in these patients, at the plasma and tissue level;
• II.2 - To study the correlation between the plasma or tissue status in carotenoids and the retinal density of these same molecules;
• II.3 - To evaluate the evolution of macular pigment and carotenoid status after 1 year of follow-up.

List of the disease(s) in question: Esophageal atresia

Identification of the structure: Hôpital Jeanne de Flandre Hospital CHU of Lille

Identification of the project manager: Audrey Lecoufle

Project presentation: Esophageal atresia (EA) is a congenital malformation characterized by an interruption of esophageal continuity. Because of this esophageal cul-de-sac, the food bolus cannot reach the stomach. The diagnosis of AO is most often made at birth: the baby has difficulty swallowing, and the passage of a probe that stops in the cul-de-sac allows the discovery of the malformation. The child is operated on quickly to restore esophageal continuity. He was fed by tube until healing, at about D4/J6. It has been observed that the sucking capacities of children with AO are decreased compared to those of children without the condition, and that the operation and the early cessation of feeding could increase these sucking difficulties in the days/weeks/months that follow.

For several years, the Centre National de la Recherche Scientifique (CNRS) has developed a succiometer, a technique for the objective evaluation of non-nutritive sucking. This study should allow to evaluate, in an objective way, the sucking skills of babies with AO during the first 3 months of life. It must specify if this malformation induces sucking disorders initially, and if these improve or not with time, in relation with the duration of the food stop and the surgical operation.

List of the disease(s) in question: Rare abdomino-thoracic diseases requiring nutritional assistance

Identification of the structure: La Vie par un Fil association et POICs association

Identification of the project manager: PICCHI Manon, KAJPR Catherine

Project presentation: For patients in home artificial nutrition, it is their life line. It is the consequence and treatment of various and rare pathologies. As soon as it is put in place, it becomes an integral part of the daily life of patients and families.

Objectives of the project :

• To carry out an inventory of the quality of life, the "living with" of people in NAD and what it implies: in the form of a survey with the patients and families concerned with analysis of the results;
• To highlight ways of improving care;
• To put forward the voice of families and patients and their daily expertise to hospitals, decision-making bodies (institutional or not) and the general public.

List of the disease(s) in question: all rare digestive pathologies requiring parenteral nutrition at home

Identification of the structure: CHU of Toulouse

Identification of the project manager: Marie-Line Gasperoni

Project presentation: Different caregivers are involved in the care of patients in Home Parenteral Nutrition (HNP). It is important to train these caregivers in order to ensure homogeneous and quality care.

The approved parenteral nutrition center in Toulouse takes care of children and adolescents with intestinal insufficiency suffering from rare digestive diseases (POIC, short haemorrhage, Hirschsprung ...).

Currently, hospitalizations can take place in the approved reference center, which is often far away from the family's home, which leads to organizational difficulties for the family. But some hospitalizations can take place in a nearby hospital if the medical and paramedical staff have the skills.

The project is to train the paramedical staff of peripheral structures in the handling of central venous lines and the use of specific parenteral nutrition equipment in order to standardize practices, to make caregivers but also families feel safe and to encourage hospitalizations close to home throughout the territory.

List of the disease(s) in question: Diaphragmatic Hernia

Identification of the structure: CHU of Lille

Identification of the project manager: Dr Sébastien Mur

Project presentation: Diaphragmatic Cupola Hernia is a rare disease that affects nearly one newborn out of 3500. It is diagnosed during pregnancy in 80% of cases and is defined by an incomplete or absent formation of the diaphragm, which allows an abnormal rise of abdominal organs in the thorax, preventing the normal development of the lungs and heart. Surgery at birth can close the diaphragm and replace the digestive organs in the abdomen. Over the last twenty years, medical advances have reduced the mortality rate of children with CDH, with the average survival rate rising from 20 to 70% for all forms of the disease.

The challenge now is to homogenize the initial management at the national and international level to improve survival and quality of life. Indeed, despite the existence of recommendations, differences in practice persist between the different centers and the outcome of the children is still very different from one center to another.

The "Diaphragmatic Hernia neonatal resuscitation database" is currently being created. It collects several precise physiological and medical parameters related to the care of newborns during their hospitalization in the neonatal intensive care unit (ventilation methods, medication, etc.). Thus, it allows to study on a significant number of patients, the results obtained in terms of fate according to the proposed management. From these data, the professionals of the Diaphragmatic Hernia network will be able to carry out ambitious research projects, focused on the management of newborns with Diaphragmatic Hernia, during their initial hospitalization.

List of the disease(s) in question: Diaphragmatic Hernia

Identification of the structure: AP-HP - Bicêtre Hospital

Identification of the project manager: Dr Guiddir Tamazoust

Project presentation: The long-term respiratory evolution is a crucial issue in the follow-up of children operated on for diaphragmatic hernia. Indeed, these children almost systematically present an underdevelopment of the lungs which requires a heavy cardiorespiratory management in neonatal intensive care with a probable impact on the respiratory function in the following years. There are few data on long-term respiratory follow-up of children with diaphragmatic hernia.

The primary objective of this study is to evaluate the respiratory function of children and cross-sectional imaging of the thorax of these children from the age of 5 years. The secondary objectives are to assess cardiocirculatory function, orality, and thoracic deformities.

List of the disease(s) in question: Chronic intestinal pseudo-obstruction (CIP)

Identification of the structure:PHYMEDEXP Laboratory, INSERM U1046, UMR 9214 CNRS (Montpellier)

Identification of the project manager: Dr Pascal De Santa Barbara

Project presentation: Chronic intestinal pseudo-obstruction (CIP) is characterized by situations in which the gastrointestinal tract, due to a contraction defect, is in occlusion (obstruction and interruption of transit) without any obstruction being evident in the intestine. Recently, mutations have been identified in several CIP patients in genes coding for proteins involved in the contraction of digestive smooth muscle cells (SMCs). This would explain why the intestinal transit of these patients is deteriorated.

In parallel, the analysis of intestinal smooth muscle from CIP patients and the development of cell cultures of SMCs isolated from these patients have shown that SMCs from CIP patients have a decrease in proteins involved in contraction and abnormally express markers of cellular immaturity. These data suggest that a defect in contraction of intestinal smooth muscle in CIP patients could be associated with a dedifferentiation of SMCs, rendering them non-functional. However, to date, the molecular mechanisms that control the (de)differentiation of intestinal smooth muscle are poorly described, which makes it difficult to assess the differentiation status of this muscle in CIP patients.

The objective of this project is to determine the molecular signature of each phase of the digestive smooth muscle differentiation process, in order to identify potential markers to characterize the digestive musculature of CIP patients.

List of the disease(s) in question: Short bowel syndrome

Identification of the structure: CHRU of Nancy

Identification of the project manager: Niasha MICHOT

Project presentation: Short bowel syndrome (SBS) is defined by an extended resection of the small intestine leaving in place at least 200 cm of the post-duodenal intestine and causing severe malabsorption. For the most part, these patients thus present intestinal failure requiring parenteral support for water, electrolytes and/or macronutrients.

The bioavailability of an oral medication is one of the pharmacokinetic parameters that may determine the clinical effectiveness of treatment. In fact, a medication taken orally must be absorbed by the gastrointestinal tract in order to reach the blood stream and find its therapeutic targets. The absorption takes place at various levels of the gastrointestinal tract, from the stomach to the rectum depending on molecules. The resection of a part of the small intestine in patients with SBS seems to have a strong impact on this absorption stage. Finally, other criteria influence the absorption stage, such as the surface and the contact time with the gastrointestinal wall, blood flow, pH, and peristalsis. Therefore, these antibiotics may be subject to variable absorption in patients with SBS, thus modifying their bioavailability.

While oral antibiotherapy is not contraindicated in patients with a short bowel, this therapeutic option is rarely retained due to the absence of existing data on the absorption of these treatments.

The purpose of the study is to assess the bioavailability of five antibiotics (or combinations of antibiotics), i.e. amoxicillin, amoxicillin-clavulanic acid , ofloxacin, levofloxacin and sulfamethoxazole-trimethoprim, following the start of ingestion by mouth of an antibiotherapy initiated intravenously in patients with a short bowel and requiring curative antibiotherapy. The antibiotics chosen for this research were selected for their good oral bioavailability.

This pilot study may help obtain preliminary data on the feasibility of ingestion by mouth in this type of patient and develop a larger, multi-centric study in order to consolidate these first results.

List of the disease(s) in question: Pathologies of the FIMATHO network for which children face the risk of developing oral feeding difficulties

Identification of the structure: AFAO association

Identification of the project manager: Laura GOUPIL and the entire team of AFAO volunteers

Project presentation: food is one of the first connections binding a mother to her child. For children suffering from an abdominal and thoracic malformation, which generally requires surgery just after birth, this bond is broken from the 1st feeding. Also, these children may be fed by tube for several years. This may lead to oral feeding problems.

One of the missions of AFAO is to accompany these children and their parents in order to (re)stimulate the pleasure of eating.

The objectives of the project are to:

• Help with neurosensory development in small children and in children presenting oral feeding difficulties, to give them the pleasure of eating again - mainly by focusing on touch, taste and sight. It is about stimulating the sensory (and thus the relational) abilities of children to favour their growth and development;
• Support families affected by oral feeding difficulties in their children by helping them meet each other;
• Favour exchanges between these families and oral feeding specialists;
• Inform families about oral feeding difficulties.

List of the disease(s) in question): All pathologies of the digestive system

Identification of the structure: La Vie par un Fil association

Identification of the project manager: Myriam LENNE

Project objectives: When a child is fed at home by parenteral nutrition, treatments are conducted by their parents, who have been trained at the hospital. As they grow up, teens may wish to become autonomous and thus need to learn to correctly and safely manage their parenteral nutrition treatments.

The La Vie Par Un Fil association, in collaboration with a specialised medical team, designed a training programme with the objectives of helping teen patients understand their disease and its treatment, managing it on a daily basis and acquiring the skills necessary for an overall and optimal treatment of their parenteral nutrition care.

Each training course will take place in three or four sessions during the school holidays in groups of five teens maximum. To mark the end of each training session, a two-day trip will be organised with patients and the medical team to finalise the increased autonomy of the teens, who will receive a personalised training booklet.

The purpose of this associative project will be to develop this type of training in all centres certified in home parenteral nutrition. The network’s support will help pay lodging expenses for patients and their parents during training sessions and during the organisation of the autonomy week-end.

List of the disease(s) in question: Oesophageal atresia

Identification of the structure: CHU of Angers

Identification of the project manager: Françoise SCHMITT

Project objectives: Minimally invasive surgery is under evaluation in the surgical treatment of congenital oesophageal malformations. Its main principle is to limit the negative impact of the surgical path on morbidity and patient comfort, by using appropriate surgical instruments and videoscopic resources.

The priority objectives of the assessment of these new techniques are to have results at least equal or even superior to the classic path by posterolateral thoracotomy, and essentially defined by a number of complications fewer than or equal to classic techniques: re-fistula, stenosis and gastro-oesophageal reflux rates with regards to the cure for oesophageal atresia.

The main objective of this project is to assess, using a retrospective, non-interventional study, the existence of a restrictive pulmonary syndrome in patients with oesophageal atresia depending on the type of surgical path conducted (conventional or minimally invasive).

List of the disease(s) in question: Oesophageal atresia

Identification of the structure: Association Française de l'Atrésie de l'OEsophage (AFAO, or French Oesophageal Atresia Association)

Identification of the project manager: ARMAND Viviane

Project objectives: Children suffering from rare abdominal and thoracic diseases are, in most cases, hospitalised from their birth in hospitals specialised in treating their pathologies, sometimes far from their families. In order to help parents stay close to their children, there exist family hosting or assistance structures in hospitals to find accommodations for them, but sometimes this is not enough.

AFAO proposes to establish, in collaboration with social services units in University hospitals, a "national lodging database" and to list available lodging options for families close to reference and knowledge centres of the network. If no other accommodation solution can be offered to a family to remain close to the child, AFAO may reimburse their transportation and lodging fees.

List of the disease(s) in question: Congenital diaphragmatic hernia

Identification of the structure: Inserm UMR_S 1121

Identification of the project manager: Isabelle TALON

Project objectives: Optimisation of tissue integration of prosthetics using functionalisation of biomaterials.

List of the disease(s) in question: Diaphragmatic hernia, omphalocele, laparoschisis

Identification of the structure: Hôpital Necker-Enfants malades

Identification of the project manager: KHEN-DUNLOP Naziha

Project objectives: The purpose of this project is to assess the quality of response to the BOLD effect in foetuses with diaphragmatic hernias and abdominal wall malformations and to look for a correlation with post-natal respiratory evolution. There is always an impact on the lungs in diaphragmatic hernias; it is classic in omphalocele and especially in hepato-omphalocele and exceptional in laparoschisis. As this is an original exploratory study, there is no preliminary data available. 

If a correlation is found, the BOLD effect of the foetal lung may be considered as an early functional marker of post-natal pulmonary function. It may be used in addition to LHR during the pre-natal exam.

List of the disease(s) in question: Oesophageal atresia

Identification of the structure: Association Française de l'Atrésie de l'Oesophage (AFAO, or French Oesophageal Atresia Association)

Identification of the project manager: ARMAND Viviane

Project objectives: The purpose of this project is to improve the neurosensory development of infants and children by mainly focusing on touch and taste. It is about stimulating sensory (and also relational) abilities of children to favour their growth and development.

List of the disease(s) in question: Diaphragmatic hernia

Identification of the structure: CHRU of Besançon

Identification of the project manager: AUBER Frédéric

Project objectives: Explore methods other than imaging to contribute to the evaluation of the prognosis in case of diaphragmatic hernia. In particular, we put forth the hypothesis that the proteomic analysis of the amniotic fluid of foetuses with diaphragmatic hernia may be likely to give prognostic information. 

The purpose of this study is therefore to identify, from a proteomic profile of the mother’s amniotic fluid in case of a foetus with diaphragmatic hernia, candidate markers for a death prognosis at two months in the infant.

First, this involves conducting an exploratory (and not interventional) study on a small sample (n=10) of the target population. This is a preliminary stage to see if results are encouraging, in which case a large-scale study may be envisaged on a biological collection to be put together (Biobanque projects supported by FIMATHO).

List of the disease(s) in question: Congenital diaphragmatic hernia

Identification of the structure: Hospices Civils de Lyon (University Hospital Centre of Lyon)

Identification of the project manager: DREYFUS Lélia

Project objectives: The main objective is to demonstrate that NAVA ventilation enables a reduction in breathing effort in newborns suffering from congenital diaphragmatic hernia, while maintaining diaphragm activity. 

Secondary objectives are to assess the impact of NAVA ventilation on: 

• Patient - ventilator synchronisation;
• Dynamic hyperinflation (intrinsic PEEP); 
• Ventilation parameters: peak inhalation pressure, average pressure, tidal volume, Ti/Ttot ratio, FiO2;
• Clinical parameters for newborns: respiratory frequency, cardiac frequency, arterial pressures;
• Gas exchanges: measurement of transcutaneous pCO2, SaO2;
• Comfort and pain scores in newborns.

List of the disease(s) in question: Short bowel syndrome, with the possibility of subsequent extension to other rare diseases which are part of the FIMATHO network.

Identification of the structure: La Vie par un Fil association

Identification of the project manager: Marie-Astrid DE JOCAS

Project objectives: Help patients suffering from short bowel syndrome with an innovative and intuitive mobile digital therapeutic monitoring tool, used to acquire knowledge on relationships between quality of life and the treatment to acquire and maintain self-care skills and mobilise or acquire adaptation skills.

Develop understanding of the quality of life in therapeutic education and thus enable truly comprehensive treatment from a physician, in order to improve the overall quality of life for people suffering from short bowel syndrome and thus to preserve their life in society.