AMMi continues to participate in all activities related to research, medical, medico-social, and the development of structures that enable our progress.
AMMi participated in the implementation of the various Rare Disease plans; today we are at the third plan (PNMR 3).
Regarding Rare Disease Plan II, it allowed, through evaluations and the drafting of a new advocacy document, for the re-labeling of centers and the extension of all center work, resumed through the creation of 23 Rare Disease Health Pathways (FSMR), thematically including all Rare Disease Reference Centers (CRMR).The five main areas developed by the FSMR primarily focus on strengthening molecular diagnosis (genetics); European networks (ERN) for knowledge sharing and clinical trials; the transition from child to adult; patient therapeutic education (ETP), National Care Protocols (PNDS) by pathology; the creation of emergency cards…; the deployment of competence centers to cover the entire territory; and all medico-social aspects…
The end of 2018 was primarily based on the evaluation and re-labeling of the FSMRs. The initial results were published during the third quarter of 2019.
AMMi was present at all meetings concerning the activities of the CRMR CARAMMEL / CALISSON and three FSMRs (Filnemus for neuromuscular, G2M for metabolism, Sensgène for sensory deficits). As for the Andirare pathway, AMMi is closely linked to it, as well as to the federation of all 23 pathways. Our pathologies are concerned by almost all 23 pathways, which, in a beautiful harmony, serve us well. [Best_Wordpress_Gallery id=”22″ gal_title=”Logos recherches 2019″]
Regarding advances directly affecting our pathologies: a large number of nuclear-origin genes (from the cell nucleus, posing the problem of parental projects differently) have been identified in a short time, over 150… And the number is only increasing, adding to the “so-called classic” mitochondrial DNA (mtDNA) mutations. Very significant advances have been made concerning work on mtDNA with a more in-depth study of variants and RNAs…
AMMi’s fight, very closely, if not jointly, linked to our reference centers, can only continue if we all remain united and cohesive in addressing all aspects of mitochondrial impairment, regardless of the gene involved, with the support of our pathways (Filnemus, G2M, Sensgène), which have perfectly integrated us into steering committees and workshops. We support them whenever necessary by responding to their requests for correspondence and actions regarding evaluations and projects… addressed to their supervisory bodies as well as to the ministry through HAS (French National Authority for Health) and DGOS (Directorate General for Healthcare Provision).
Thanks to your involvement, membership, donations, and events organized by many of you, AMMi has been able to respond to all invitations concerning this work, as the numerous trips to Paris and across the territory incur significant costs, even when trying to minimize them.
Please be assured of our gratitude, and through this, know that everyone’s voice is heard and carried, and that you are all active participants and present through the person who represents you and defends AMMi’s cause and fight.
To address the changes concerning the re-labeling results of our CRMRs and FSMRs-2019
To date, there have been changes in coordinators, often due to the coordinator’s age, given that re-labeling occurs every five years:
- The elected coordinator of the CARAMMEL reference center, proposed by Prof. Arnold Munnich and supported by AMMi, is Prof. Jean-Paul Bonnefont, who has been present in CARAMMEL from the very beginning. This in no way hinders the activity of Prof. Arnold Munnich, who continues to hold his appointments at IMAGINE and follow his patients at the same number and secretariat.
- Regarding the Filnemus pathway, Prof. Sharam Attarian (Marseille Neuromuscular Reference Center) replaces Prof. Jean Pouget, who was appointed to the Ministry to further defend us.
- For G2M: Prof. Pascale de Lonlay (Necker) was elected and replaces, at her request, Prof. Brigitte Chabrol.
- Prof. Manuel Schiff has joined Pascale de Lonlay’s team at Necker.
- Unfortunately, he could not be replaced at Robert Debré, which, however, continues to welcome many of our patients with his former team.
- As part of Plan III and the reorganizations: Prof. Pascal Laforêt (appointed to Poincaré Hospital in Garches) was elected for the South Paris axis in the grouping of neuromuscular centers and has been involved in all CARAMMEL coordination meetings since 2017…
- Prof. Abdel Slama proposed Dr. Pauline Gaignard from the Kremlin-Bicêtre research laboratory as his replacement.
- Prof. Abdel Slama remains present for our patients and all of us.
AMMi has been a partner in all evaluations and re-labeling processes: the Rare Disease plan having directly integrated concerned associations within these institutions.
The member/clinical researcher meetings at IMAGINE are highly sought after by both sides, considered essential encounters for providing information to both members and the CRMR and FSMR parties. We hope to be able to continue holding them.
The member/clinical researcher meetings at IMAGINE are highly sought after by both sides, considered essential encounters for providing information to both members and the CRMR and FSMR parties. We hope to be able to continue holding them.
Other information and advances:
- The Diagnostic, Quality, Research Network (RDQR) coordinated by Prof. Vincent Procaccio meets regularly and also participates in the activities of the CRMRs and Filnemus, as well as our MeetOchondrie network.
- As you know, the diagnosis of mitochondrial diseases is extremely complex and difficult, and this network is essential and must assert itself in the face of the requirements of Plan 3: “A diagnosis for all and for each,” in order to preserve enzymology (study of respiratory chain complexes), as well as the anatomopathological part of the muscle, cerebral MRI, etc. AMMi is very involved and must help in this regard so that our patients do not lose their identity and specificity when the gene is not identified. Helping the network in this sense is essential because our fight is extremely particular compared to other pathologies integrated into the FSMRs and the Rare Disease plan.
– Its success is growing, bringing together an increasing number of researchers and clinicians. The network’s work is ongoing through an exchange platform for all specific research concerning mitochondria and mixed research units… European and international.
– The network has developed annual training and information workshops while continuing regular conferences. The network is entirely composed of active volunteer researchers and clinicians, in addition to their regular working hours. This is a remarkable collaboration alongside AMMi.
– Preparation for the next congress is underway and will take place in May.
- December 2018: a winter school was organized in Nice by Prof. Véronique Paquis, accompanied by teams from Marseille and Paris, bringing together all European researchers and clinicians with workshops dedicated to students. AMMi was invited to represent and present the association’s objectives and needs.
- May 2019: a summer school was organized by Prof. Pascal Laforêt in the same manner, also in Nice, a location chosen by the European scientific and medical community.
- Great success, with rich exchanges, from these “schools” and workshops entirely dedicated to mitochondrial diseases and research.
MeetOchondrie Network Activities:
- Labeling in 2017 of the rare epilepsies center (Epirare) coordinated by Prof. Rima Nabbout (Necker). AMMi provided its support for this achievement, with which it is associated.
- AMMi has joined the House of the Brain, which is a grouping of researchers, clinicians, and associations within Neurocampus and Brain, in connection with the ICM (Brain and Spinal Cord Institute).
- With the IHU (University Hospital Institute) Liryc, specialized in rhythm disorders, AMMi, aided and supported by Prof. Didier Lacombe’s genetics department, is trying to push for the development of research concerning arrhythmias in the context of mitochondrial diseases. The advances are significant.
- AMMi also works regularly with the Alliance Maladies Rares (Rare Diseases Alliance) and is a member of its national council, along with Orphanet, Eurordis, INSERM…
Research funding by AMMi:
- AMMi regularly provides €5,000 in aid to MeetOchondrie, often with additional funds for workshops.
- Regular aid and support, ranging up to €30,000 or €40,000 depending on the year, are allocated to submitted applications, reviewed by the most relevant members of our scientific council, depending on the subject, and submitted after the scientific council’s findings to our board of directors for evaluation and vote, always striving to consider what is most important for our patients.
Some practical details:
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- MDPH applications are always a source of anxiety and trouble for many of us: they have just been re-edited following work studied in the steering committee with the CNSA. They are therefore more complete and will allow you to express in a more detailed and exhaustive way both the patient’s condition and their needs, as well as those of caregivers…
- Note that the medical section can no longer be filled out in a simplified manner as before, with just a stamp for renewal. Fill out this section very carefully in conjunction with the doctor, and provide the diagnosis signed by an expert center.
- As for Long-Term Illness (ALD) applications, know that mitochondrial diseases are classified as hereditary metabolic diseases with specific CNAM coding. The majority of CPAMs do not have time to train evaluators on rare diseases.
- It is important to no longer use mitochondrial cytopathy but: mitochondrial disease or hereditary metabolic mitochondrial myopathy (because many applications have been returned with “unknown disease”).
- To provide direct financial aid to our research laboratories: you can solicit businesses, merchants, and artisans, asking them to pay the apprenticeship tax, or a portion of it, to one of our teacher-researchers (this is a direct allocation ensured between the accountant and the chamber of commerce). The collected sums are extremely valuable aid for our laboratories.
Thank you all for your attention and trust. We remain at your full disposal for any further information in this area, where AMMi continues to carry out its activities and maintain a consistent presence.
