Easing the Burden of Clinical Trial Participation for Children with Rare Diseases

By Devina Lahaie

Business Development Manager

“The days are long but the years are short.”1 To me, this quote perfectly encapsulates the experience of being a parent with busy mornings getting your little one out the door to school and long nights when they can’t sleep with a stuffy nose. Those days were very long but looking back at photos and memories, the years went by in a flash. Parenting can be a fulfilling full-time job, however, if you’re the parent or caregiver to a child with extensive medical needs or a rare disease, the demands can be around the clock.

Having a rare disease can significantly lower the quality and length of life. With limited treatments available, parents and caregivers look to clinical trials to alleviate the effects of the disease. Participating in a clinical trial can get you access to free healthcare, compensation for your time, being the first to benefit from new medicines or therapies and most importantly, the opportunity to prolong life for those with terminal illnesses. Yet there can be hurdles to getting into and staying engaged with a clinical trial.

So, what’s in the way? A predominant rate limiting factor to participating in a trial is access to sites. The most often cited barrier to participation was “when a potential participant has no car, transportation can be difficult to access or is too costly.”2 Only a subset of hospitals and physicians’ offices also participate in clinical trials, limiting the number of accessible site locations, hence potential participants may need to travel long distances – extending their time away from home or work. The need to transport medical supplies, a wheelchair, or other bulky medical supplies further compounds the difficulty of getting to the site.

Another factor to consider is a visit to the doctor’s office can be generally unpleasant for a child. At every visit to the doctor, my daughter asks if she has to get a shot. Just the thought of the needle causes her heart to race, and I have to bribe her with some treat or a toy to put on a brave face and halt the tears (it never works). This is both anxiety-inducing for her and frustrating for me.

There are tools available now to help young patients and their caregivers make fewer trips to the doctor’s office, while still participating in a clinical trial. Technology vendors that support clinical trials are meeting this need with decentralized clinical trial (DCT) services that enable subjects to participate in trials virtually from their homes:

Direct-to-Patient Medication Shipments

Almac Clinical Technologies along with Almac Clinical Services offers direct-to-patient shipments of clinical trial medications in studies where the IMP can be shipped. These are clinical trial medications that are not frozen, the patient lives in the same state as the site or depot shipper, and the medicine can be self-administered at home by the patient or their parent/caregiver.  Almac also integrates with other clinical data vendors that offer remote eConsent services which helps to automate enrollment into a trial, enabling patients to complete additional scheduled site visits from their home.


In order to participate in a clinical trial, patients need to be educated about the risks of being involved and consent, or assent in the case of a minor, to participation by signing an Informed Consent Form (ICF). This process usually happens in person at a clinical site, however, trials that offer eConsent can collect signatures electronically making the process remote and eliminating a site visit for the patient.

Telehealth Site Visits

At the onset of the COVID-19 Pandemic, lockdowns delayed or completely stopped progress on many clinical trials mid-study with active patients. In response to this, clinical trial sites adopted the use of currently available tools like Zoom and other remote conference and video calling services to continue to monitor subjects. Commercial telehealth tools for clinical trials are still limited but available. Sponsors should look for vendors whose Telehealth offering is both Part 11 and HIPAA compliant.

Electronic Patient Reported Outcomes (ePRO)

Electronic tools for collecting outcomes information from patients have improved vastly since its inception. Many vendors offer a bring-your-own-device model enabling patients to use a cell phone or tablet that they are familiar with and already have in their possession. ePRO tools aid study participants’ ability to stay engaged with a trial by providing alerts when it’s time to make entries and collecting data in real-time from subjects where recall is most accurate.

Giving young patients and their parents access to remote tools for trial participation reduces the amount of time they must commit to travel and time at the site. This is time that can be much better spent on bonding or other restorative family activities that are beneficial to the child and parents. We encourage our pharma and biotech partners to engage with technology vendors that have developed DCT technologies and services for the mutual benefit of our ongoing research, giving patients more time back in their day. For more information in support of caregivers of a loved one with a rare disease, please check out: The National Organization for Rare Disorders | NORD (rarediseases.org) and the Caregiver Action Network.

  1. “The Happiness Project” by Gretchen Rubin.
  2. NIH: Review of the Literature: Primary Barriers and Facilitators to Participation in Clinical Research (nih.gov)

Navigating a Rare Disease: A Mother’s Story

Rare Disease Day interview with Lori Leathers

Photo of Lori Leathers and her son Gabe

Rare Disease Day®, which this year is observed on February 29 (the rarest day on the calendar) is a day to honor the millions impacted by unique and often complex conditions. While there are many who were led to Almac by their dedication to clinical development, there are some who were led to our company through very personal experiences. Today, we want to share the journey of Lori Leathers, business development manager at Almac Clinical Technologies and mother of an adult son with Fragile X syndrome.

Lori’s son, Gabe, has special needs arising from Fragile X syndrome (FXS) – a rare genetic disorder that causes various physical, intellectual, and behavioral health issues. Lori’s devotion to caring and advocating for Gabe, who was first diagnosed as a toddler, has been a central feature of her life as a mother and career woman.

Before her son’s diagnosis was even confirmed through genetic testing, Lori participated in twice-weekly occupational therapy sessions with him. Eventually, he also needed physical and speech therapy, which she could accommodate with her job in field-based sales. As Gabe grew, however, and his educational needs became more specialized and time-consuming, she felt the need to resign from her corporate position.

In a move both practical and altruistic, Lori became a self-employed consultant to help other parents in similar situations. “When children with special needs or a rare disease become 21, school districts are no longer responsible for their educational services,” Lori explained. “So, there are a number of practical supports that are needed and financial steps that families must take to ensure that their loved ones receive Supplemental Security Income (SSI) and have funding available in the future. I could share my own knowledge and experience with others, and my schedule gave me the freedom to help Gabe take part in clinical trials as they became available.”

Initially, the trials available to Gabe were non-interventional observational studies, but over time, more studies have opened for medications treating symptoms of Fragile X Syndrome. Currently, Gabe is enrolled in an open-label extension study specifically targeting Fragile X Syndrome. Gabe, now 22, is doing well. He lives independently near Lori, with round-the-clock supervision.

Photo of Fragile X Syndrome Patient, Gabe Leathers

And Lori has once again turned her personal interest into a career focus when she joined Almac six months ago. “I’ve been able to bring my first-hand experience with being involved in clinical studies to emphasize the need for patient engagement in clinical research,” she said. “It is very helpful to be able to share my experience with Sponsors. Plus, I know that my work is helping to get much-needed therapies to patients and families much faster.”

Lori is appreciative of Almac’s work environment and culture. She notes, “Everyone has been very friendly, patient-focused, and supportive of my needs to travel with my son for research purposes. And, I have access to all the most current information about treatments in the investigational pipeline, which I can share it with other families in this space.”

Lori’s roughly 20 years of personal experience in supporting a special needs child has given her a unique perspective that is especially helpful to loved ones of those recently diagnosed with a rare disease. Her encouraging words to them are:

  • Be a strong advocate for your loved one. Don’t take “no” for an answer; find answers for yourself and question things you’re not comfortable with. Listen to your instincts.
  • Reach out to others for support. Advocacy groups are a great resource for information about potential interventions and clinical trials, and people in the rare disease and special needs communities are very helpful.
  • Don’t become discouraged. The road may be long, but there is help along the way, and hope for advances with continuing research.

Lori has navigated the process of caring for Gabe through her persistence and willingness to get involved. She feels fortunate to be working at Almac where her personal and professional interests align so well. May her story shine a light on the unwavering strength and dedication of patients, their caregivers, and the continued pursuit of answers by our clinical research Sponsors and partners.  

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