Rare Disease

Your Partner for Development and Commercialization of Rare Disease Treatments

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Rare diseases present unparalleled challenges for patients. At Alira Health, we help companies develop and commercialize rare disease treatments with the intense focus on the unique needs of rare disease patients that is crucial to your success. With a continuum of patient-centric solutions, we work with you to successfully develop and provide life-changing treatments to the patients.

From clinical trial patient recruitment and retention to crafting a patient-centric product strategy, our transversal team stands by you every step of the way.

Full Lifecycle of Rare Disease Services for Your Success

Regulatory

Clinical and Biometrics

Market Access

Real-world Evidence

Commercial

Regulatory

Clinical and Biometrics

Market Access

Real-world Evidence

Commercial

Tailored and Truly Patient-Centric Approach for Rare Disease Treatments

Navigating the complexities of rare disease product development requires a nuanced approach. We know how to meet healthcare system expectations and offer an unmatched continuum of patient-centric solutions to aid you in this journey.

Our multidisciplinary team boasts:

A profound understanding of patients' perspectives and their true unmet needs
Extensive connections with patient organizations and key opinion leaders
A proven track record in rare disease projects across various indications
Experience in de-risking and accelerating the path to clinical development and commercialization in both pediatric and adult indications
Membership in leading rare disease associations such as EURORDIS

On-Demand Webinar: Cross-Border Access to Rare Disease Clinical Trials: A Patient-Centric Approach to Feasibility and Execution

Access practical insights on cross-border rare disease clinical trials and explore patient-centric strategies that support sponsor execution and patient access.

Rare Diseases We've Worked On

Acromegaly
Acute Lymphoblastic Leukemia (ALL)
Acute Myeloid Leukemia (AML)
Adenoid Cystic Carcinoma (ACC)
Adenosine Deaminase 2 Deficiency (DADA2)
Adenosine deaminase-deficient severe combined immunodeficiency (ADA-SCID)
Alagille Syndrome (ALGS)
Alpha-1 antitrypsin deficiency (AATD)
Amyotrophic Lateral Sclerosis (ALS)
Anaplastic lymphoma kinase (ALK) positive non-small cell lung cancer (NSCLC)
Anti-neutrophil cytoplasmic antibody-associated vasculitis (AAV/ANCA-associated vasculitis))
aRMS: Advanced Treatment Refractory and PAX3/7 FOXO1 Fusion Gene Positive Alveolar Rhabdomyosarcoma
Atypical Hemolytic Uremic Syndrome (aHUS)
Autoimmune encephalitis (AE)
Autosomal recessive hearing loss (GBJ2-related deafness)
Bardet-Biedl syndrome (BBS)
B-cell Chronic lymphocytic leukemia (B-CLL)
Beta Thalassemia (BT/β-thalassemia)
Bladder carcinoma in situ (CIS)
Brittle Type 1 diabetes
Bronchopulmonary dysplasia (BPD)
Bullous Pemphigoid (BP)
Cerebrotendinous Xanthomatosis (CTX)
Cholangiocarcinoma (CCA)
Chronic Graft vs. Host Disorder (cGvHD)
Chronic Iron Overload in Transfusion Dependent Anemias (Sickle cell disease and Beta thalassemia)
Chronic Myeloid Leukemia (CML)
Chronic pseudomonas infection with cystic fibrosis or bronchiectasis
Cold Agglutinin Disease (CAD)
Cushing Disease (CD)
Cutaneous Small Cell Carcinoma (CSCC)
Cutaneous T Cell Lymphoma (CTCL)
Cystic Fibrosis (CF)
Diffuse Large B-Cell Lymphoma (DLBCL)
Dravet Syndrome (DS)
Duchenne Muscular Dystrophy (DMD)
Early Onset Epileptic Encephalopathy (EOEE)

Eclampsia
Endogenous Cushing’s Syndrome (Endogenous CS)
Epidermolysis Bullosa (EB)
Essential Thrombocythemia (ET)
Fabry Disease (FD)
Familial adenomatous polyposis (FAP)
Follicular Lymphoma (FL)
Fragile X syndrome (FXS)
Friedreich’s ataxia (FRDA)
Gastric Cancer (GC)
Gastrointestinal Neuroendocrine Tumor (GI-NET)
Gastrointestinal Stromal Tumors (GISTs)
Gaucher Disease (GD)
Glioblastoma (GBM)
Gorlin syndrome
Graft vs Host Disease (GvHD)
Growth hormone deficiency (GHD)
Hemophilia (A, B) (HA, HB)
Hepatocellular Carcinoma (HCC)
Hodgkin’s Lymphoma (HL)
Homozygous Familial Hypercholesterolaemia (HoFH)
Hunter Syndrome (MPS II)
Huntington Disease (HD)
Hurler-Scheie Syndrome (MPS I H/S)
Hypertrophic Cardiomyopathy (HCM) – rHCM and oHCM
Idiopathic hypersomnia (IH)
Idiopathic Pulmonary Fibrosis (IPF)
Immunoglobulin A nephropathy (IgAN)
Juvenile Rheumatoid Arthritis (JRA)
KCNT1 Epilepsy
Langerhans Cell Histiocytosis (LCH)
Lennox-Gastaut Syndrome (Rare Epilepsy) (LGS)
Leptin receptor (LEPR) deficiency
Lupus nephritis (LN) related to Systemic Lupus Erythematosus (SLE)
Lynch Syndrome (HNPCC)
Marginal Zone Lymphoma (MZL)
MERTK-associated Inherited Retinal Dystrophy (IRD)
Mesothelioma
Metachromatic leukodystrophy (MLD)
Microvillus inclusion disease (MVID)
Multiple Myeloma (MM)
Myasthenia Gravis (MG)
Myelodysplastic Syndromes (MDS)
Myelofibrosis (MF)
Myxoid/Round Cell Liposarcoma (MRCLS)
Narcolepsy type 1 (NT1)
Narcolepsy type 2 (NT2)

Neuroblastoma (NB/NBL)
Neuroendocrine tumors (NETs)
Neurofibromatosis (NF)
Neuromyelitis Optica (NMO)
Osteosarcoma (OS)
Ovarian Cancer (OC)
Pancreatic cancer (PC)
Pancreatic Neuroendocrine Tumour (NET/PNET)
Paroxysmal Nocturnal Hemoglobinuria (PNH)
Pediatric congenital athymia (Pediatric CA)
Pediatric soft tissue sarcoma (Pediatric STS)
Peripheral T-Cell Lymphomas (PTCL)
PIK3CA-related overgrowth spectrum (PROS)
Polycythemia Vera (PV)
Pompe Disease (PD/GSD-II)
Prader Willi Syndrome (PWS)
Primary Biliary Cholangitis (PBC)
Progressive Familial Intrahepatic Cholestasis (PFIC)
Proopiomelanocortin (POMC) deficiency
Pulmonary Arterial Hypertension (PAH)
Refractory/relapsed acute myeloid leukemia (rrAML- r/rAML)
Renal Cell Carcinoma (RCC)
Retinitis Pigmentosa (RP)
Rett syndrome (RTT)
RPE65-related Retinal Dystrophy
SCN8A Epilepsy
Severe Combined Immunodeficiency (SCID)
Short Bowel Syndrome (SBS)
Sickle Cell Disease (SCD)
Small Cell Lung Cancer (SCLC)
Soft Tissue Sarcoma (STS)
Spinal Muscular Atrophy (SMA)
Stargardt disease type 1 (STGD1)
Systemic Mastocytosis (SM)
Systemic Sclerosis (SSc)
Systemic Sclerosis-Related Interstitial Lung Disease (SSc-ILD)
Thrombotic thrombocytopenia purpura (TTP)
Transthyretin-mediated amyloid cardiomyopathy (ATTR-CM)
Trigeminal Neuralgia (TN)
Usher Syndrome (USH)
VEXAS syndrome
Waldenstrom’s macroglobulinemia (WM)
Wolfram Syndrome (WS)

In rare diseases, every breakthrough begins with listening. When we truly hear patients through meaningful patient experience data and unwavering partnership with the community, scientific innovation becomes something greater: life-changing therapies rooted in real human need.

In this space, collaboration between industry and patient advocacy groups isn’t optional; it’s essential. A value proposition shaped by real-world unmet needs and built with the patient community is no longer a “nice to have.” It is what accelerates clinical recruitment and retention, strengthens the value story, drives successful launches, and ultimately empowers better adherence and better lives.

Giulia Pierini, Partner, Patient, Access, and Evidence and Co-Chair of Rare Disease Centre of Excellence

Latest Expert Insights

Rare Disease Trial Recruitment: The Role of Patient Registries

Explore how registries in rare disease trial recruitment connect sponsors with patient communities to improve identification and enrollment.

Preparing Rare Disease Manufacturers for JCA: The Role of Early Stakeholder Engagement

Discover how stakeholder engagement helps rare disease manufacturers prepare for JCA and how to apply stakeholder management best practices in the JCA context.

Latest Rare Disease Insights

The Importance of Involving Patients in the Health Technology Assessment Process for Rare Diseases

We spoke with Alira Health’s Annabel de Maria, Chief Patient Officer and Ahmad Bechara, Executive Vice President Global Pharma about how engaging rare disease patients in the HTA process gives them the opportunity to have a meaningful impact on the outcome.

Creating Patient-Centric Clinical Trials in Rare Disease

For sponsors and CROs, patient engagement is critical. This guide explores specific opportunities for sponsors, CROs, and trial sites to develop patient-centric clinical trials for rare diseases.

Case Study: Mid-size Pharma Accelerates Early Clinical Trial Engagement Of Patients With A Rare Neurological Disease

Alira Health helped the client make the rare disease clinical study more accessible and feasible to patients through a Patient Advisory Board. The patient relationships generated helped to expand the client’s reach and involvement in clinical trials.

Rare Disease

Full Lifecycle of Rare Disease Services for Your Success

Tailored and Truly Patient-Centric Approach for Rare Disease Treatments

On-Demand Webinar: Cross-Border Access to Rare Disease Clinical Trials: A Patient-Centric Approach to Feasibility and Execution

Latest Expert Insights

Rare Disease Trial Recruitment: The Role of Patient Registries

Preparing Rare Disease Manufacturers for JCA: The Role of Early Stakeholder Engagement

Latest Rare Disease Insights

The Importance of Involving Patients in the Health Technology Assessment Process for Rare Diseases

Creating Patient-Centric Clinical Trials in Rare Disease

Case Study: Mid-size Pharma Accelerates Early Clinical Trial Engagement Of Patients With A Rare Neurological Disease

FDA Initiatives and Programs to Support Development of Treatments for Rare Diseases in 2026

Preparing Rare Disease Manufacturers for JCA: The Role of Early Stakeholder Engagement

Rare Disease Trial Recruitment: The Role of Patient Registries

Contact Us to Learn More About How We Can Support Your Needs