Trajectoires de soins et facteurs sociodémographiques : l’exemple des maladies rares en France

Chaffotec, Alexandra Le

doi:10.3917/jgem.145.0389

Cited by 4 publications

(12 citation statements)

References 7 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…In France, National Plans for Rare Diseases promote equal access to diagnosis and care throughout the country [4]. In particular, expert physician networks are responsible for ensuring appropriate use of orphan drugs.…”

Section: Introductionmentioning

confidence: 99%

Patient access to orphan drugs in France

Bourdoncle

Juillard-Condat

Taboulet

2019

Orphanet J Rare Dis

View full text Add to dashboard Cite

Background Since incentives were introduced to promote orphan drugs in Europe, several dozens of drugs have been registered at the European level. However, patient access on a national level remains very heterogeneous across Europe. This can be explained by healthcare organization and drug reimbursement, which are within the purview of each Member State. We studied access to orphan drugs in France from the patients’ point of view, including marketing but also ease of supply from patients’ perspective, financial and time-based dimensions. Results We identified 91 registered orphan drugs in Europe, corresponding to 115 orphan drug–therapeutic indication pairs. In France, 78.3% (90/115) of these pairs were marketed: 100% were available to inpatients and 75.6% were available to outpatients. The median period between granting of the European marketing authorization and publication of the reimbursement decision was 360 days. The broadest availability—through community pharmacies—was guaranteed in only 31.1% of cases. Prescriptions were mainly restricted either to hospital-based doctors or to specialists. Inpatients were not financially responsible for these prescriptions and 72% of the orphan drug–therapeutic indication pairs available to outpatients were fully covered by national health insurance in France. Conclusions Patient access to orphan drugs is not universal in France. Access to reimbursement has a strong impact on patients’ effective access to orphan drugs, which may be restricted by difficulties with assessing the clinical value of these drugs and with pricing issues. Prescribing restrictions and drug delivery systems influence the ease of patients’ supply for reimbursed orphan drugs for patients. Patients do not seem to be limited by financial issues, but the growing budgetary impact of orphan drugs is worrisome from a societal point of view.

show abstract

Section: Introductionmentioning

confidence: 99%

Patient access to orphan drugs in France

Bourdoncle

Juillard-Condat

Taboulet

2019

Orphanet J Rare Dis

View full text Add to dashboard Cite

show abstract

“…These associations ask more modesty of doctors when they are diagnosing a patient, and they urge health professionals to listen more attentively to patients’ complaints. They call this approach the “culture of prudence” or “culture of doubt” (Boucand, 2010; Le Chaffotec, 2014). Indeed, promoting mutual listening appears paramount.…”

Section: Discussionmentioning

confidence: 99%

“…According to the latest report from Alliance Maladies Rares [Rare Diseases Alliance] (2016) based on a survey of 22 rare diseases in France, “34% of patients know the name of their disease within six months,” but “22% wait more than five years” (p. 4). In a study of 10 rare diseases, Le Chaffotec (2014) estimated that the average time it takes for a patient to obtain an accurate diagnosis is 4.9 years, but that the wait can be as long as several decades for some.…”

Section: Quest For Diagnostic and Rare Diseasesmentioning

confidence: 99%

Individuals With the Rare Disease Pemphigus: A Quest for Diagnostic

Hénaff

Héas

2018

Qual Health Res

View full text Add to dashboard Cite

This qualitative study conducted in France of “individuals living with a pemphigus” (ILPs; N = 54) highlights the taxing diagnostic trajectory of those suffering from these rare autoimmune diseases. Beyond enduring a diagnostic period that may prove long, during their numerous medical appointments, these individuals internalize the expectations of the medical professionals who are treating them. In some cases, numerous inconclusive medical tests and, at times, a doctor’s condescension may push the patient toward a process of renunciation. This article relates the ILPs’ critiques of the medical work conducted during the trying diagnostic period.

show abstract

“…This study was conducted within the Rare Barometer programme, the survey initiative of EURORDIS-Rare Diseases Europe 11 . It relies on an online questionnaire designed based on a review of previous studies on the diagnosis delays for PLWRD [2][3][4][5][6][7][8][9] , an online discussion forum conducted between…”

Section: Survey Developmentmentioning

confidence: 99%

“…Goals set for the diagnosis of RD range from six months (European Rare 2030 foresight study 32 ) to one year (International Rare Diseases Research Consortium -IRDiRC 2 ) of coming to medical attention. The available evidence [3][4][5][6][7][8][9][13][14] is primarily condition-specific or country-specific, but shows that the diagnosis search of PLWRD often involves visits with several healthcare professionals, numerous tests, misdiagnoses or inappropriate treatments, including surgeries, which is why it is often referred to as a 'diagnosis odyssey'. The introduction of nextgeneration sequencing should improve the diagnosis of people living with genetic RD who have been undiagnosed for years.…”

Section: Introductionmentioning

confidence: 99%

Time to diagnosis and determinants of diagnosis delays of people living with a rare disease: a Rare Barometer retrospective patient survey

Dubief,

Faye,

Crocione

et al. 2024

Preprint

View full text Add to dashboard Cite

Timely diagnosis is one of the most serious challenges faced by people living with a rare disease (PLWRD), and this new research estimates that in Europe, the average Total Diagnosis Time (TDT) is 4 to 5 years. We investigated the duration of the TDT for PLWRD in Europe, the difficulties associated with their diagnosis odyssey and the main determinants of diagnosis delays for all rare diseases (RD). We conducted a survey of PLWRD and their families between March and June 2022 using Rare Barometer, the survey initiative of EURORDIS-Rare Diseases Europe. In geographical Europe, we surveyed 6,507 people living with 1,675 RD in 41 countries. We then peformed a descriptive analysis and ordinal logistic regressions to identify the main determinants of diagnosis delays. Average TDT is 4.7 years. 56% of respondents were diagnosed more than 6 months after a first medical contact. The main determinants of diagnosis delays are symptom onset before 30 years of age, especially during childhood (OR = 3.11; 95% CI: 2.4-4.0) and adolescence (OR = 4.79; 95% CI: 3.7–6.2), being a woman (OR = 1.22; 95% CI:1.1–1.4), living in Northern Europe (OR = 2.15; 95% CI:1.8–2.6) or Western Europe (OR = 1.96; 95% CI:1.6–2.3), the number of healthcare professionals consulted (OR = 5.15; 95% CI:4.1–6.4), misdiagnosis (OR = 2.48; 95% CI:2.1–2.9), referral to a centre of expertise (OR = 1.17; 95% CI:1.0-1.3), unmet needs for psychological support (OR = 1.34; 95% CI:1.2–1.5) and financial support (OR = 1.16; 95% CI:1.0-1.3), having a genetic disease (OR = 1.33; 95% CI:1.1–1.5) and a family history of a RD (OR = 1.36; 95% CI:1.1–1.6). These determinants can inform policies and actions to improve access to diagnosis for all PLWRD.

show abstract

Trajectoires de soins et facteurs sociodémographiques : l’exemple des maladies rares en France

Cited by 4 publications

References 7 publications

Patient access to orphan drugs in France

Patient access to orphan drugs in France

Individuals With the Rare Disease Pemphigus: A Quest for Diagnostic

Time to diagnosis and determinants of diagnosis delays of people living with a rare disease: a Rare Barometer retrospective patient survey

Contact Info

Product

Resources

About