Rare Disease Diagnosis Can Take Up to 15 Years as Families Push for Faster Treatment Access

Diagnosing rare diseases can take between three and 15 years, leaving patients without answers about their ailments for extended periods. Across rare diseases, diagnosis can take about 4.8 years on average, and about 95% of rare diseases do not have approved treatments.

A rare disease is one that affects fewer than 200,000 people in the U.S. There are nearly 7,000 rare diseases, affecting more than 25 million Americans. In Singapore, a rare disease is defined as one that affects fewer than one out of 2,000 people, with about 3,000 people living with such conditions. Thus far, 7,600 genetic diseases have been identified, and more are being discovered every year.

Families of children with rare diseases are pushing for regulatory changes to speed access to potentially life-saving therapies. The "March for Rare" is being cohosted by the National MPS Society and Project Alive at the U.S. Food and Drug Administration, with 150 families from around the country expected to participate. The organizers said there are "stalled" treatments for several types of MPS diseases. MPS is shorthand for mucopolysaccharidoses, which are genetic diseases caused by lack of an enzyme to break down cellular waste, leading to build up until it amounts to "toxic storage throughout the body."

The goal of the march is to draw attention to the need for research and treatments to continue and to bring stalled medications to patients who desperately need them. Parents want the FDA to accept surrogate endpoints like biomarkers instead of waiting for something perfect that may never come. They're asking for streamlined approval processes like the "plausible mechanism pathway" that will help children with orphan diseases quickly and head off damage.

With rare genetic diseases, what's lost doesn't come back. The diseases that therapies are designed to manage move much more quickly than the process of getting those therapies approved. Families face regulatory delays for treatment, while children lose ground in irreversible ways.

Genetic disorders are usually caused by differences or changes in a person's genes. While many genetic conditions are inherited from parents who are affected or are carriers, some can arise in children even when neither parent has the condition. New mutations can occur in a sperm or an egg cell, or during early embryonic development.

Often, genetic testing may not be done early for a patient with a rare condition, as most doctors test for common treatable conditions first. Medical teams may defer genetic evaluations due to prevailing beliefs that most genetic conditions lack curative treatments, but rapid advances in the field are changing this.

Since rare diseases are so few and their symptoms are often non-specific, many conditions can slip through the cracks or go unnoticed. A timely diagnosis translates to earlier discussions with patients and caregivers about treatment options, prognosis and anticipatory care, providing some level of certainty and assurance in difficult circumstances.

The Digital Health Measurement Collaborative Community (DATAcc) has launched a core set of digital clinical measures designed to help support the development of new therapies for pediatric rare diseases. DATAcc is part of the Digital Medicine Society (DiMe), a collaborative group working to advance the use of digital health measures in research.

DATAcc worked with industry, advocacy groups, researchers, regulators, and families to define a core set of digital clinical measures intended to standardize how meaningful health data are collected in pediatric rare disease research. The open-access resources include a conceptual model outlining key aspects of health affected by rare diseases, such as movement, cognition, communication, social participation, daily functioning, sleep, and medical management.

The initiative also provides a tool with a core set of digital clinical measures that researchers can customize for specific diseases, populations, or individual study needs. The dataset draws on 123 literature sources and more than 1,300 patient and caregiver quotes spanning 73 rare conditions and 25 therapeutic areas.

Because each condition affects relatively few children, traditional clinical trials can be difficult to design and may place significant demands on patients and families. According to DATAcc, standardizing digital measurement tools may help reduce trial burden on families and support more efficient evaluation of potential treatments.

Advances in genetic testing have helped improve the speed and accuracy of diagnosing rare diseases. However, challenges mean many affected children have few treatment options, and some rare diseases can be life-threatening early in life.