Resources and expertise that help solve the unique challenges of rare disease research

Expert Support for the Unique Challenges of Rare Disease Research

Rare disease research comes with unique complexities that can delay or prevent your valuable treatments from reaching patients. Mapi’s expertise and resources perfectly position us to help you achieve your project goals, gain critical regulatory support, and realize the reimbursement status that’s needed to reach patients desperately in need of treatment.

Mapi’s areas of expertise—including Real World Evidence, Real World Strategy & Analytics, Patient & Health Care Provider Insights, Direct-to-Patient Contact, Strategic Regulatory Services, Language Services, Patient Centered Outcomes, and Pharmacovigilance & Risk Management—are among the services that make Mapi’s integrated solution unique, enabling us to cover the entire spectrum of study challenges.

Our dynamic working style allows us to integrate and partner with an orphan drug developer’s own team, or simply provide single service support. For over 40 years, Mapi has been dedicated to ensuring that the voice of the patient is heard through the entire health research lifecycle. We’ve helped improve the lives of patients around the world by working with regulators, researchers, and developers to bring innovative treatments to market.

Selected Registry & Post Marketing Studies Experience

Registry & Post Marketing Studies

PKU Disease
Mapi collaborated with a pharmaceutical company in a comprehensive program that included implementation of an expanded access program, beginning at NDA filing, to address unmet patient needs. Clinical, humanistic, and safety data was collected from 400 PKU patients enrolled at 42 clinical sites, leading up to product approval. Following approval, a PKU Disease Registry was initiated that Mapi is currently managing, which will enroll 4,000 PKU patients at 100 sites, as well as a sub-registry of pregnant women with PKU. Patients are primarily children with some adults who are being followed for up to 15 years.

Open-Label Safety Study in Patients with Dystrophinopathies
Pre-approval of an open-label safety study for patients with dystrophinopathies. The objective of this study is to assess the safety and tolerability of a sponsor’s ultra-orphan product in subjects with dystrophinopathies, who had prior exposure to the product during clinical trials. There are 107 patients enrolled at 18 sites in the United States. The study is currently expanding to 21 additional global sites and 82 patients in Australia, Belgium, France, Germany, Israel, Italy, Sweden, and the UK.

IGF-1 Deficiency Registry
A registry to determine the prevalence of IGF-1 deficiency in a population of children with a short stature, to identify the target population for a new product. Three hundred (300) patients will be recruited over 12 months from 90 sites in 9 European countries (Austria, Belgium, France, Italy, Netherlands, Poland, Romania, Spain, and the UK).

Retrospective Hemophilia Registry
A retrospective immune tolerance induction registry in patients with hemophilia. The registry was conducted at 28 sites in 8 countries (US, UK, France, Germany, Spain, Italy, Netherlands, and Sweden).

Hypophosphatasia Registry
A registry design and protocol development for an ultra-orphan product to provide enzyme replacement in patients with hypophosphatasia. A disease registry will be implemented prior to approval of the product and following regulatory approval.

Short Bowel Syndrome (SBS) Registry
Consulting in study design and protocol development for a prospective, long-term, observational, multi-center registry for patients with short bowel syndrome treated with the sponsor’s orphan product.

Hypoparathyroidism Registry
Mapi designed and developed the protocol and is conducting this registry designed to characterize the natural history of hypoparathyroidism, including clinical outcomes, morbidity, and mortality in patients, regardless of treatment.

Nephropathic Cystinosis Registry
Consultation with a sponsor to develop a disease / product registry for patients with nephropathic cystinosis.

Selected Experience

Mapi is the market leader in all the disciplines needed to help you successfully commercialize Orphan Drugs and manage Rare Disease programs. Click below to see a sampling of our deep experience in working with orphan drugs and rare diseases.


  • Protocol review, CRF design, and analysis plan in mucopolysaccharidosis (MPS-1)
  • Relevance and context of pharmacoeconomic information for orphan drug for treatment of chronic kidney disease
  • Endpoint review for orphan drug in multiple sclerosis
  • SMC submission for an orphan drug for the treatment of anthracycline extravasation
  • Regulatory approval for orphan drug for hereditary angioedema
  • Economic evaluation of orphan drug for the treatment of infants with diaper dermatitis complicated by candidiasis
  • Systematic review and evidence synthesis for orphan drug in Fabry’s disease
  • Market access evidence assessment for a new orphan drug for short bowel syndrome
  • Submission to Dutch Healthcare Insurance Board (College voor Zorgverzekeringen) of an orphan drug for treatment of metastatic soft-tissue sarcoma
  • Review and refinement of a cost-effectiveness model for an orphan drug in phenylketonuria
  • FDA PRO claims given to orphan drugs: a systematic review from PROLabels, a Mapi database dedicated to PRO labeling claims
  • Consulting on measurement of treatment benefit in Sanfilippo Syndrome
  • Consulting on measurement of treatment benefit in Rett Syndrome
  • Measurement of treatment acceptance in Cystic Fibrosis
  • Support of reimbursement strategy in Iron Chelation Therapy
  • Exploring the potential cost and HRQL benefits of products in hemophilia: literature reviews, models and recommendations
  • Support with internal and external communication on PRO results of phase III trials in hemophilia
  • Gap analysis and strategic recommendations for the Cystic Fibrosis Questionnaire-Revised
  • Literature review on the relationships between satisfaction and adherence in cystic fibrosis
  • Literature review, patient interviews, burden of illness model in narcolepsy
  • PRO endpoint strategy in children and adolescents with narcolepsy
  • Clinical trial endpoint review, recommendations, and FDA PRO submission package in hereditary angioedema
  • Update to FDA submission package in hereditary angioedema
  • Qualitative literature and instrument review in atypical hemolytic uremic syndrome
  • PRO strategy for reimbursement in Europe for iron overload
  • Systematic literature review to inform clinical trial validation activities for a new COA in von Willebrand’s disease
  • Review of pain studies in a rare genetic disorder with pain as a primary outcome and the development of value arguments for payers in Europe and Australia

Selected Regulatory Experience

  • Orphan Drug designation in the US and EU for Huntington’s disease, Pancreatic cancer, Batten Disease, Central Precocious Puberty, Squamous Cell Carcinoma, AML, Hodgkin’s Lymphoma, Barrett’s Esophagus
  • Orphan Drug Marketing Applications in US or EU for Pancreatic cancer, Central Precocious Puberty, Hodgkin’s Lymphoma, and Barrett’s Esophagus
  • Assists, leads, and attends orphan scientific advice meetings
  • Filing and maintenance of US and EU orphan designation applications
  • Transfer of orphan designations
  • Assist with the preparation, conduct, and follow up of an audit by third-party potential licensees for an orphan-designated product
  • Review company’s applications, conduct gap analysis, and provide solutions for area of deficiency
  • Provide strategic regulatory support for orphan clinical development including endpoints, precedence, and current initiatives to the discussions

Qualitative Research, Mixed Methods Research, & Tool Development

  • Development and validation of a quality of life questionnaire in hemophilia
  • Development and validation of composite tool assessing level of control of disease in Acromegaly
  • Development and validation of a screener in Pediatric Narcolepsy
  • Development of an endpoint in Pancreatitis
  • Development and validation of a questionnaire to assess HRQoL of phenylketonuria patients from age 9 to adulthood
  • Development and analyses of composite endpoint to assess pain in three Phase III trials in hereditary angioedema for submission to FDA
  • Development of a compliance questionnaire in hemophilia
  • Validation of the Treatment Satisfaction Questionnaire for Medication (TSQM) in cystic fibrosis
  • Qualitative research on burden of disease in Clostridium-Difficile infections
  • Focus group & interviews with caregivers of metachromatic leukodystrophy patients
  • Cognitive debriefing of a PRO questionnaire in hereditary angioedema
  • Development of the Ascites Impact Measure (AIM)
  • Validation of the Satisfaction with Iron Chelation Therapy questionnaire (SICT)
  • Development and validation of a PRO measure in von Willebrand’s disease
  • Applying mixed methods research to test the content validity of the KCCQ in cardiac amyloidosis
  • Patient interviews within a clinical trial to assess symptoms linked to hypertriglyceridemia treatment in the US, Canada and Russia
  • Burden of illness research in immune thrombocytopenic purpura in Europe
  • Exploratory interviews in retinitis pigmentosis to confirm treatment benefits

Analyses of PRO: Psychometrics and Clinical Trial Outcomes

  • PRO analysis for Phase II & III trial in systemic lupus erythematosus nephritis
  • PRO analysis for Phase II trial in systemic lupus erythematosus
  • PRO analysis of clinical trial: oral contraceptive use in systemic lupus erythematosus patients
  • PRO analysis of clinical trial: HRT use in systemic lupus erythematosus patients
  • Analyses of data from 2 hemophilia A trials, including one in children
  • Analyses of data from 1 hemophilia B trial, in adults in adolescents
  • Analyses of trial data to assess satisfaction of cystic fibrosis patients towards a new inhalation device
  • Production of normative data for quality of life of patients with Growth Hormone Deficiency
  • Protocol review, CRF design and analysis plan in mucopolysaccharidosis (MPS-1)
  • Validation and reduction of QUAL-HEMO questionnaire for teenagers with hemophilia
  • Analyses of EQ-5D phase III data in hemophilia A
  • Analysis of PRO and utility data from a phase III clinical trial of a drug in hemophilia B
  • Analysis of the impact of severe hemophilia A on patients health status: results from a clinical trial
  • Qualitative analysis of the link between SF-36 measure and results from survey in hypoparathyroidism
  • Analysis of PRO data from a clinical trial in iron overload patients receiving iron chelation therapy

Integral Solutions for Successful Orphan Drug Commercialization