For the approximately 7,000 known rare diseases, less than 10% of diseases have an FDA-approved treatment available. Due to a small number of patients, limited understanding of the variability and progression of the diseases, developing a drug or treatment for rare diseases is often challenging.

Rare diseases currently affect 3.5% – 5.9% of the worldwide population. In the United States. the total number of Americans living with a rare disease is estimated at between 25-30 million and, only a few types of rare diseases are tracked when a person is diagnosed which includes certain infectious diseases, birth defects, and cancers. 

As most rare diseases are not tracked, it is hard to determine the exact number of rare diseases or how many people are affected.

What is a rare disease or orphan disease?

Definitions of rare diseases vary from country to country. In the United States, a rare disease is defined as a condition that affects fewer than 200,000 people in the US.

Rare diseases became known as orphan diseases because drug companies were not interested in adopting them to develop treatments.

FDA orphan drug approvals

Over the past five years, one-third of the drugs approved by the FDA are for rare diseases, and one-third of first-in-class NMEs are developed to treat rare diseases. More than 600 orphan drugs were approved by the FDA since the passage of the Orphan Drug Act in 1983,

Many research and clinical trials are being conducted to treat rare disease conditions. Finding clinical trial sites for conducting rare diseases is a nightmare for sponsors and CRO’s because of the rarity, heterogeneity, complex patient management associated with rare conditions, patient recruitment, creating and executing an orphan drug clinical trial at sites is difficult.

Top 7 rare diseases around the world

Here is the list of the top 7 rare diseases around the world

Hutchinson-Gilford Progeria

Progeria is a genetic condition that occurs as a new mutation which is characterized by a dramatic appearance, quick aging in childhood. There is no cure for Progeria. Hutchinson-Gilford progeria is the first of the rarest disease in the world

Fields’ Disease

This disease does not have a medical name, but doctors have been able to call it a neuromuscular disease wherein the muscles in the body slowly deteriorates, which restricts movements.

Fibrodysplasia Ossificans Progressiva

The classic symptom of this disease is a malformation of the big toe. There is no known treatment for FOP, as surgery to remove the bone seems to cause the body to produce more. It affects the connective tissue.

Von Hippel-Lindau

This is characterized by the growth of tumors in various parts of the body. Many tumors will grow in the central nervous system and are often benign but made of blood vessels. Medically known as hemangioblastomas, these tumors can start growing in the retina, brain, and spinal cord.

Microcephaly

Microcephaly is a very rare condition that is seen immediately at birth, and sometimes even before birth. The head becomes smaller than the normal baby’s head at birth. Many believe that the disease is caused by exposure to hazardous substances while the baby is in the uterus, such as radiation, or genetic problems.

Paraneoplastic Pemphigus

PNP is a rare autoimmune bullous disease that causes blistering. Keratinocytes are separate from one another, leaving gaps. Many times the gap becomes filled with fluid peel, leaving skin raw and open to infection. These blisters usually appear in the mouth, throat, lips, and random places on the skin.

Morgellons

Morgellons itself as a disease is poorly understood that some doctors seem to believe this is a chronic infectious disease. The disease is classified by biting, itching, or crawling sensations, filaments growing from the skin, and skin lesions, as well as memory loss, and fatigue. There are no known drug or effective treatment for Morgellons.

While planning a rare disease clinical trial, you need to choose a region that offers better infrastructure and regulatory support, that make your trials complete steadily. The United States is one of the preferred regions for performing rare disease studies. Let’s discuss the advantages and a few details about the rare disease clinical trial sites.

Why do you need to choose the United States for your rare disease clinical trials?

Here are the following advantages of conducting clinical trials in the United States compared with other regions.

  • Accelerated regulatory review
  • Longer market exclusivity than blockbuster drugs
  • Research grants from governments and private organizations
  • Tax credits for clinical trials
  • Waiver of user fee
  • Available patient population

Rare disease clinical trial sites & the United States

Along with regulatory support from the FDA, here are some site-level advantages for conducting clinical trials in the United States. 

  • Availability of qualified & experienced clinical investigator 
  • A major number of sites have great infrastructure for conducting rare disease trials 
  • Good patient recruitments and retention rates
  • Effective clinical trial timelines

Would you like to perform a feasibility study with rare disease sites from the United States? Fill the form below or explore credevo feasibility services or contact us at helpdesk@credevo.com


Top 20 most studied rare diseases in the United States

Here are the top 20 rare disease clinical trials being conducted in the United States

S NoOrphan drug numberDiseaseNumber of Trials
1223735Lymphoma 7,041
2547Non-Hodgkin lymphoma 2,420
3513Acute lymphoblastic leukemia 2,142 
488673Hepatocellular carcinoma 2,029
552688Myelodysplastic syndrome2,009
6519Acute myeloid leukemia 2,800
729073 Multiple myeloma 2,755
8213500Ovarian cancer 2,707
9182067 Glial tumor 2,470
10217071 Renal cell carcinoma 1,689
11360Glioblastoma 1550
1270482 Carcinoma of esophagus 1,476
1398293 Hodgkin lymphoma 1,290
14521Chronic myeloid leukemia 1,278
15545Follicular lymphoma1,220
16586Cystic fibrosis 1,218
17673Malaria 1,135
183389Tuberculosis 1,080
1952416 Mantle cell lymphoma 1,011
20180242 Malignant tumor of fallopian tubes 718

Let’s discuss each rare disease and sites where the clinical trial was conducted. 

Top rare diseases and clinical trials sites in the USA

Lymphoma

Hodgkin lymphoma (HL) is a heterogeneous group of malignant lymphoid neoplasms of B-cell origin characterized histologically by the presence of Hodgkin and Reed-Sternberg (HRS) cells in the vast majority of cases.

Hodgkin lymphoma (HL) is uncommon cancer with an incidence of about 1/40,000 in North America and Europe. There are about 8500 new cases reported in the U.S. each year. Currently, 1,310 clinical trials are ongoing in the United States.

Clinical trials of lymphoma are conducted at clinical trial centers like Dana-Farber/Harvard Cancer Center (DF/HCC), (DE/HCC) is an NCI-designated comprehensive cancer center is one of the largest cancer research enterprises in the world enrolling thousands of patients for rare disease clinical trials.

Non-Hodgkin lymphoma

Non-Hodgkin’s lymphomas are a group of cancers of the lymphatic system. Swollen lymph nodes in the neck or groin occur and usually spread throughout the body.  The cause of non-Hodgkin’s lymphoma is unknown but it may be caused by a virus. Non-Hodgkin’s Lymphoma may occur at any age.

A total of 1,972 trials are ongoing on Non-Hodgkin’s lymphomas in the United States. Clinical trials on Non-Hodgkin’s lymphomas were performed at Sidney Kimmel Cancer Center which comprises 32 hospitals within their network. The center performed hundred of studies with oncology researches and professional staff for performing orphan disease trials.

Acute lymphoblastic leukemia

Acute lymphoblastic leukemia is a rare disease characterized by malignant proliferation of lymphoid cells blocked at an early stage of differentiation and accounts for 75% of all cases of childhood leukemia. Currently, 1,484 clinical trials are going in the United States on Acute lymphoblastic leukemia.

Clinical trials on Acute lymphoblastic leukemia are conducted at the experienced sites like MD Anderson Cancer Center. MD Anderson researchers conducted thousands of clinical trials to test new treatments for both common and rare cancers. MD Anderson provides cancer care at several convenient locations throughout the Greater Houston area and collaborates with community hospitals and health systems nationwide through MD Anderson Cancer Network.

Hepatocellular carcinoma

Hepatocellular carcinoma (HCC) is a rare disorder in the United States, but the most common primary tumor of the liver. HCC often does not cause any symptoms, especially early in the disease course. If HCC is diagnosed at a late stage, patients may not be able to receive curative treatments, and care is then geared toward helping people have a better quality of life.

A total of 647 clinical trials registered on clinicaltials.gov with 25 ongoing clinical trials in the United States.

Mayo Clinic has performed clinical trials on Hepatocellular carcinoma. More than a million people visit Mayo Clinic for their treatment excellence. Mayo Clinic has the expertise and clinical professionals in conducting many complex clinical trials. It also has conducted clinical trials in many rare clinical trials.

Myelodysplastic syndrome

Myelodysplastic syndromes (MDS) are a rare group of blood disorders that occur as a result of the disordered development of blood cells within the bone marrow. The three main types of blood elements (i.e., red blood cells, white blood cells, and platelets) are affected.

A total of 1,474 trials were registered in the United States on Myelodysplastic syndrome from which 417 are ongoing.

Clinical trials on Myelodysplastic syndrome were conducted at Montefiore Medical Center. Montefiore Medical Center is a premier academic medical center, internationally recognized as a leader of the science-driven, patient-centered research center and is currently conducting trials on Myelodysplastic syndrome and many other such rare diseases.

Acute myeloid leukemia

Acute myeloid leukemia (AML) is the most common acute form of leukemia in adults. Most people who develop this form of cancer are older adults; more than half of the affected individuals are 65 years old or older. Although uncommon, AML can occur in children.

To date, 1,905 clinical trials were registered on clinicaltrials.gov with 554 ongoing trials.

Rare disease clinical trial sites such as City of Hope Medical Center, have been working on clinical trials in Acute Myeloid Leukemia. The City of Hope community includes professionals from various segments of clinical research with an aim to find a better treatment for rare disease patients.

Multiple myeloma

A multiple myeloma is a rare form of cancer characterized by excessive production (proliferation) and improper function of certain cells (plasma cells) found in the bone marrow. A total of 1,75 trials were registered on clinicaltrials.gov with 517 ongoing trials.

Multiple myeloma trials were performed by the team of experts at Memorial Sloan Kettering cancer center. Memorial Sloan Kettering center has more than 120 research laboratories, 38 state-of-the-art core facilities with the latest research technology, and a wide range of expert services. It provides complete expertise in conducting rare disease clinical trials with experienced professionals.

Ovarian cancer

Ovarian cancer is a form of cancer that occurs due to abnormal and uncontrolled cell growth in the ovaries. Many people with early ovarian cancer have no signs or symptoms of the condition. Approximately 10-25% of ovarian cancers are thought to be hereditary Although the underlying genetic cause of some hereditary cases is unknown.

In the United States, a total of 1,623 trials were registered on clinicaltrials.gov with 509 ongoing trials.

Clinical investigators and clinicians from Cedars-Sinai Medical Center worked upon clinical trials on the study of “pembrolizumab with standard treatment in patients with recurrent platinum-resistant ovarian cancer“. Cedars signal medical center covers clinical trials in molecular genetics, biochemical analysis, and disease-based areas such as cancer, cardiovascular disorders, and neurosciences.

Glial tumor

A glioma is a tumor of the central nervous system that arises from the glial stem or progenitor cells. Glial cells are a type of cell widely present in the nervous system. Gliomas mostly occur in the brain and, rarely, in the spinal cord. It’s a rare disease developed in approximately 6.6 per 100,000 individuals each year. A total of 2,410 clinical trials were registered from the united states on clinicaltrials.gov with 764 ongoing trials.

The Vanderbilt-Ingram Cancer Center has a long history of excellence in conducting clinical research. Clinical trials on Glial tumor were conducted in this site with Stephen Clark, MD as a principal investigator who has great medical expertise and clinical trial experience.

Renal cell carcinoma

Renal cell carcinoma, though rare, is the most common form of kidney cancer found in adults. Usually, the first sign that something is wrong is the passing of blood in the urine. Other signs may include flank pain and an abdominal mass that can be felt by the examining doctor. The exact cause of renal cell carcinoma is not known. However, a history of smoking is thought to increase the risk of developing this disease.

1,031 of total trials were registered in the United States with 324 ongoing trials. Clinical trials on Renal cell carcinoma were performed at Penn State Cancer Institute sites located at Hershey, PA. This site has performed clinical trials in various disciplines and specialization along with clinical research in rare diseases.

Glioblastoma

Glioblastoma multiforme (GBM) is the most common and deadly brain tumor in adults. The incidence in the USA and Europe is 2–3 per 100,000. By definition, an orphan disease affects up to 200,000 persons in the USA (one in every 1,500). 1,059 clinical trials were registered on clinicaltrials.gov with 318 ongoing trials.

Mid-Atlantic Epilepsy and Sleep Center, LLC has performed clinical trials on rare diseases like Glioblastma at its research site. This site has experienced clinical investigators with good medical experience and a huge portfolio of clinical trials.

Carcinoma of esophagus

A total of 58 clinical trials were registered in the United States on Carcinoma of the esophagus. Esophageal cancer is an uncommon form of cancer (malignancy) that arises in the esophagus. Esophageal cancer is characterized by abnormal, uncontrolled cellular growth that forms in tissues and cells of the esophagus. This cancer can invade surrounding tissues and may spread (metastasize) to distant bodily tissues or organs via the bloodstream, the lymphatic system, or other means.

Hunter Holmes McGuire VA Medical Center located at Richmond, VA has been conducting clinical trials on carcinoma of the esophagus. This center draws from a panel of 37,000 patients and conducts Phase 1-4 inpatient and outpatient studies. The research programs are supported by an independent investigational pharmacy and an IRB that meets weekly. Seventy investigators conducted over 270 research studies.

Hodgkin lymphoma

Hodgkin lymphoma (HL) is a heterogeneous group of malignant lymphoid neoplasms of B- cell origin characterized histologically by the presence of Hodgkin and Reed-Sternberg (HRS) cells in the vast majority of cases. HL is uncommon cancer with an incidence of about 1/40,000 in North America and Europe.

A clinical trial was performed at St. Jude Children’s Research Hospital located at Memphis, TN with Kevin Krull, Ph.D. as principal investigator on Hodgkin lymphoma. St. Jude Children’s Research Hospital has a complete infrastructure to perform rare diseases and clinical trials in other disciplines. This site has also performed pediatric clinical trials.

Chronic myeloid leukemia

Esophageal cancer is an uncommon form of cancer (malignancy) that arises in the esophagus. Esophageal cancer is characterized by abnormal, uncontrolled cellular growth that forms in tissues and cells of the esophagus. 912 clinical trials were registered on clinicaltrials.gov with 170 ongoing trials in the United States.

A clinical trial with the title “Ruxolitinib in Combination With Nilotinib in Chronic Myeloid Leukemia (CML) Patients” was conducted at Moffitt Cancer Center. Moffitt has experts in many areas of cancer research including but not limited to biologists, biostatisticians, behavioral researchers, chemists, clinical trialists, etc. will full infrastructure for conducting clinical trials especially in rare diseases.

Follicular lymphoma

The prevalence of follicular lymphoma is estimated at about 1/3,000. Follicular lymphoma is located primarily in the lymph nodes, but can also involve the spleen, bone marrow, peripheral blood, and Waldeyer’s ring.

A clinical trial with Dr. Jon Arnason MD as a principal investigator was conducted at Beth Israel Deaconness Medical Center on Follicular lymphoma rare disease. BIDMC is a world-class teaching hospital of Harvard Medical School and is located in the heart of Boston. BIDMC researchers run more than 850 active sponsored projects and 500 funded and non-funded clinical trials.

Cystic fibrosis

Cystic fibrosis is a genetic disorder that often affects multiple organ systems of the body. Cystic fibrosis is characterized by abnormalities affecting certain glands (exocrine) of the body especially those that produce mucus. Cystic fibrosis is a life-threatening rare disease that affects approximately 30,000 people in the US. Since the 1950s, when patients with this condition rarely lived past the age of 5 or 6,

A total of 557 clinical trials were registered on clinicaltrials.gov with 115 ongoing trials. Cystic fibrosis rare disease clinical trial was performed at CAMC Cancer Center. CAMC center conducts clinical trials in many therapeutic areas with an expert staff and a great portfolio of projects.

Malaria

According to the Centers for Disease Control and Prevention (CDC) in Atlanta, malaria is uncommon in the United States where approximately 1,200 cases are diagnosed each year, usually having been contracted abroad. In the United States, malaria results in two to five deaths, on average, each year. 112 clinical trials on malaria were registered in the USA with 15 ongoing trials.

Tuberculosis

Tuberculosis (TB) is an acute or chronic bacterial infection found most commonly in the lungs. The infection is spread like a cold, mainly through airborne droplets breathed into the air by a person infected with TB. Clinical trials are being conducted in the United State sites and a total of 144 trials have been registered on clinicaltrials.gov with 17 ongoing trials.

A clinical trial on Tuberculosis was performed at Care New England (CNE) with the title “Improving Rhode Island’s Tuberculosis Preventive Services in Primary Care“. CNE research center has performed many clinical trials in rare diseases along with research in other disciplines of medicine with experienced investigators and clinical professionals.

Mantle cell lymphoma

Mantle cell lymphoma (MCL) is an uncommon form of non-Hodgkin’s lymphoma (NHL), comprising about 2 to 7 percent of adult NHLs in the United States and Europe. The disease primarily affects older adults, with males representing approximately three-quarters of those with MCL

A total of 796 trials were registered on clinicaltrials.gov with 173 ongoing trials. A number of clinical trials were performed at OHSU Knight Cancer Institute along with clinical trials on a rare disease like Mantle cell lymphoma. OHSU Knight Cancer Institute has facilitated resources for conducting clinical trials along with experienced clinical trial professionals.

Malignant tumor of fallopian tubes

Fallopian tube cancer develops in the tubes that connect a woman’s ovaries and uterus. It is very rare and accounts for only 1-2% of all gynecologic cancers. Fallopian tube cancer occurs when normal cells in one or both tubes change and grow in an uncontrolled way, forming a mass called a tumor

Levi S. Downs, a principal investigator at Masonic Cancer Center located at Minneapolis, MN, has performed a clinical trial on Malignant tumor of fallopian tubes. The purpose of the clinical; trial was to determine the maximum tolerated dose of lenalidomide when combined with fixed-dose pegylated liposomal doxorubicin hydrochloride in women with recurrent ovarian epithelial, fallopian tube, or primary peritoneal cancer. Along with this trial, Masonic Cancer Center has performed many clinical trials in rare diseases and has a great portfolio of successful projects.


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References

  1. https://rarediseases.info.nih.gov/diseases/pages/31/faqs-about-rare-diseases
  2. https://www.clinicalleader.com/doc/rare-disease-patient-recruitment-and-retention-0001
  3. https://food.ndtv.com/health/rare-disease-day-7-most-rare-diseases-in-the-world-and-the-importance-of-research-1664134
  4. https://clinicaltrials.gov/